ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

The American Journal of Gastroenterology - Tập 110 Số 2 - Trang 223-262 - 2015
Sapna Syngal1,2,3,4,5, Randall E. Brand6, James M. Church7,8,9, James M. Ford10, Heather L. Hampel11, Randall W. Burt12
1Brigham and Women’s Hospital, Boston, Massachusetts, USA;
2Dana Farber Cancer Institute, Boston, Massachusetts, USA
3Guarantor of the article: Sapna Syngal, MD, MPH, FACG.
4Harvard Medical School Boston Massachusetts USA
5Sapna Syngal, MD, MPH, FACG, Dana Farber Cancer Institute, 450 Brookline Avenue, Dana 1124, Boston, Massachusetts 02215, USA. E-mail: [email protected]
6Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA
7Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio, USA
8Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA
9Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia, Cleveland Clinic Foundation, Cleveland, Ohio, USA
10Johns Hopkins University School of Medicine, Baltimore, Maryland USA
11Department of Internal Medicine, Ohio State University, Columbus, Ohio, USA
12Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA

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Tài liệu tham khảo

Guyatt, 2008, GRADE: an emerging consensus on rating quality of evidence and strength of recommendations., BMJ, 336, 924, 10.1136/bmj.39489.470347.AD

Lu, 2014, American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers., J Clin Oncol, 32, 833, 10.1200/JCO.2013.50.9257

Ziogas, 2003, Validation of family history data in cancer family registries., Am J Prev Med, 24, 190, 10.1016/S0749-3797(02)00593-7

Wideroff, 2010, Coherence and completeness of population-based family cancer reports., Cancer Epidemiol Biomarkers Prev, 19, 799, 10.1158/1055-9965.EPI-09-1138

Aaltonen, 1998, Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease., N Engl J Med, 338, 1481, 10.1056/NEJM199805213382101

Barnetson, 2006, Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer., N Engl J Med, 354, 2751, 10.1056/NEJMoa053493

Hampel, 2005, Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)., N Engl J Med, 352, 1851, 10.1056/NEJMoa043146

Pinol, 2005, Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer., JAMA, 293, 1986, 10.1001/jama.293.16.1986

Salovaara, 2000, Population-based molecular detection of hereditary nonpolyposis colorectal cancer., J Clin Oncol, 18, 2193, 10.1200/JCO.2000.18.11.2193

Berg, 2009, Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives., Genet Med, 11, 35, 10.1097/GIM.0b013e31818fa2ff

Hampel, 2008, Feasibility of screening for Lynch syndrome among patients with colorectal cancer., J Clin Oncol, 26, 5783, 10.1200/JCO.2008.17.5950

Akiyama, 1997, Germ-line mutation of the hMSH6GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred., Cancer Res, 57, 3920

Bronner, 1994, Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer., Nature, 368, 258, 10.1038/368258a0

Fishel, 1993, The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer., Cell, 75, 1027, 10.1016/0092-8674(93)90546-3

Leach, 1993, Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer., Cell, 75, 1215, 10.1016/0092-8674(93)90330-S

Ligtenberg, 2009, Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 exons of TACSTD1., Nat Genet, 41, 112, 10.1038/ng.283

Lindblom, 1993, Genetic mapping of a second locus predisposing to hereditary non-polyposis colon cancer., Nat Genet, 5, 279, 10.1038/ng1193-279

Liu, 1994, Hamilton SR et al. hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds., Cancer Res, 54, 4590

Miyaki, 1997, Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer., Nat Genet, 17, 271, 10.1038/ng1197-271

Nicolaides, 1994, Mutations of two PMS homologues in hereditary nonpolyposis colon cancer., Nature, 371, 75, 10.1038/371075a0

Papadopoulos, 1994, Mutation of a mutL homolog in hereditary colon cancer., Science, 263, 1625, 10.1126/science.8128251

Peltomaki, 1993, Genetic mapping of a locus predisposing to human colorectal cancer., Science, 260, 810, 10.1126/science.8484120

Giardiello, 2014, Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer., Am J Gastroenterol, 109, 1159, 10.1038/ajg.2014.186

Dinh, 2011, Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population., Cancer Prev Res, 4, 9, 10.1158/1940-6207.CAPR-10-0262

Kastrinos, 2009, Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy., Am J Gastroenterol, 104, 1508, 10.1038/ajg.2009.135

Jass, 1994, Hereditary non-polyposis colorectal cancermorphologies, genes and mutations., Mutat Res, 310, 125, 10.1016/0027-5107(94)90016-7

Edelstein, 2011, Rapid development of colorectal neoplasia in patients with Lynch syndrome., Clin Gastroenterol Hepatol, 9, 340, 10.1016/j.cgh.2010.10.033

Alarcon, 2007, Estimating cancer risk in HNPCC by the GRL method., Eur J Hum Genet, 15, 831, 10.1038/sj.ejhg.5201843

Bonadona, 2011, Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome., JAMA, 305, 2304, 10.1001/jama.2011.743

Choi, 2009, Penetrance of colorectal cancer among MLH1MSH2 carriers participating in the colorectal cancer familial registry in Ontario., Hered Cancer Clin Pract, 7, 1897, 10.1186/1897-4287-7-14

Dunlop, 1997, Cancer risk associated with germline DNA mismatch repair gene mutations., Hum Mol Genet, 6, 105, 10.1093/hmg/6.1.105

Jenkins, 2006, Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study., Clin Gastroenterol Hepatol, 4, 489, 10.1016/j.cgh.2006.01.002

Quehenberger, 2005, Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment., J Med Genet, 42, 491, 10.1136/jmg.2004.024299

Hendriks, 2004, Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance., Gastroenterology, 127, 17, 10.1053/j.gastro.2004.03.068

Senter, 2008, The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations., Gastroenterology, 135, 419, 10.1053/j.gastro.2008.04.026

Hampel, 2005, Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset., Gastroenterology, 129, 415, 10.1016/j.gastro.2005.05.011

Vasen, 2005, Clinical description of the Lynch syndrome hereditary nonpolyposis colorectal cancer (HNPCC)., Fam Cancer, 4, 219, 10.1007/s10689-004-3906-5

Jarvinen, 2000, Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer., Gastroenterology, 118, 829, 10.1016/S0016-5085(00)70168-5

Jarvinen, 1995, Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer., Gastroenterology, 108, 1405, 10.1016/0016-5085(95)90688-6

Jarvinen, 2009, Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members., J Clin Oncol, 27, 4793, 10.1200/JCO.2009.23.7784

Dove-Edwin, 2005, Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study., BMJ, 331, 1047, 10.1136/bmj.38606.794560.EB

Engel, 2010, Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer., Clin Gastroenterol Hepatol, 8, 174, 10.1016/j.cgh.2009.10.003

Stuckless, 2012, Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation., Clin Genet, 82, 439, 10.1111/j.1399-0004.2011.01802.x

Vasen, 2010, One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome., Gastroenterology, 138, 2300, 10.1053/j.gastro.2010.02.053

de Vos tot Nederveen Cappel, 2002, Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study of 114 families., Dis Colon Rectum, 45, 1588, 10.1007/s10350-004-7244-3

Baglietto, 2010, Risks of Lynch syndrome cancers for MSH6 mutation carriers., J Natl Cancer Inst, 102, 193, 10.1093/jnci/djp473

Parry, 2011, Metachronous colorectal cancer risk for mismatch repair gene mutation carriers: the advantage of more extensive colon surgery., Gut, 60, 950, 10.1136/gut.2010.228056

Win, 2013, Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers., Ann Surg Oncol, 20, 1829, 10.1245/s10434-012-2858-5

Haanstra, 2012, Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy., Dis Colon Rectum, 55, 653, 10.1097/DCR.0b013e31824f5392

Barrow, 2009, Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations., Clin Genet, 75, 141, 10.1111/j.1399-0004.2008.01125.x

Engel, 2012, Risks of less common cancers in proven mutation carriers with Lynch syndrome., J Clin Oncol, 30, 4409, 10.1200/JCO.2012.43.2278

Watson, 2008, The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome., Int J Cancer, 123, 444, 10.1002/ijc.23508

Dove-Edwin, 2002, The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma., Cancer, 94, 1708, 10.1002/cncr.10380

Renkonen-Sinisalo, 2007, Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome., Int J Cancer, 120, 821, 10.1002/ijc.22446

Schmeler, 2006, Chen L-m et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome., N Engl J Med, 354, 261, 10.1056/NEJMoa052627

Yang, 2011, A cost-effectiveness analysis of prophylactic surgery versus gynecologic surveillance for women from hereditary non-polyposis colorectal cancer (HNPCC) Families., Fam Cancer, 10, 535, 10.1007/s10689-011-9444-z

Kwon, 2008, Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome., Cancer, 113, 326, 10.1002/cncr.23554

Capelle, 2010, Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands., Gastroenterology, 138, 487, 10.1053/j.gastro.2009.10.051

Aarnio, 1997, Features of gastric cancer in hereditary nonpolyposis colorectal cancer syndrome., Int J Cancer, 74, 551, 10.1002/(SICI)1097-0215(19971021)74:5<551::AID-IJC13>3.0.CO;2-9

Aarnio, 1999, Cancer risk in mutation carriers of DNAmismatchrepair genes., Int J Cancer, 81, 214, 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L

Vasen, 2001, MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families., J Clin Oncol, 19, 4074, 10.1200/JCO.2001.19.20.4074

Schulmann, 2005, HNPCC-associated small bowel cancer: clinical and molecular characteristics., Gastroenterology, 128, 590, 10.1053/j.gastro.2004.12.051

Saurin, 2010, Small-bowel capsule endoscopy diagnoses early and advanced neoplasms in asymptomatic patients with Lynch syndrome., Endoscopy, 42, 1057, 10.1055/s-0030-1255742

Van der Post, 2010, Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers., J Med Genet, 47, 464, 10.1136/jmg.2010.076992

Myrhoj, 2008, Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer., Fam Cancer, 7, 303, 10.1007/s10689-008-9193-9

Theriault, 1990, Bladder cancer screening among primary aluminum production workers in Quebec., J Occup Environ Med, 32, 869, 10.1097/00043764-199009000-00021

Win, 2012, Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study., J Clin Oncol, 30, 958, 10.1200/JCO.2011.39.5590

Kastrinos, 2008, Phenotype comparison of MLH1 and MSH2 mutation carriers in a cohort of 1,914 individuals undergoing clinical genetic testing in the United States., Cancer Epidemiol Biomark Prev, 17, 2044, 10.1158/1055-9965.EPI-08-0301

Canto, 2013, International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer., Gut, 62, 339, 10.1136/gutjnl-2012-303108

Miller, 2002, Exclusion of breast cancer as an integral tumor of hereditary nonpolyposis colorectal cancer., Cancer Res, 62, 1014

Vasen, 2001, Is breast cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer?, Am J Hum Genet, 68, 1533, 10.1086/320610

Raymond, 2013, Elevated risk of prostate cancer among men with Lynch syndrome., J Clin Oncol, 31, 1713, 10.1200/JCO.2012.44.1238

Winkels, 2012, Smoking increases the risk for colorectal adenomas in patients with Lynch syndrome., Gastroenterology, 142, 241, 10.1053/j.gastro.2011.10.033

Botma, 2010, Body mass index increases risk of colorectal adenomas in men with Lynch syndrome: the GEOLynch cohort study., J Clin Oncol, 28, 4346, 10.1200/JCO.2010.28.0453

Mathers, 2012, Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial., Lancet Oncol, 13, 1242, 10.1016/S1470-2045(12)70475-8

Burn, 2012, Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial., Lancet, 378, 2081, 10.1016/S0140-6736(11)61049-0

Jarvinen, 1992, Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival., Gut, 33, 357, 10.1136/gut.33.3.357

Bulow, 1996, The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register., Int J Colorectal Dis, 11, 88, 10.1007/BF00342466

Bisgaard, 1994, Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate., Hum Mutat, 3, 121, 10.1002/humu.1380030206

Bjork, 1999, Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females., Scand J Gastroenterol, 34, 1230, 10.1080/003655299750024751

Iwama, 2004, A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan., Int J Clin Oncol, 9, 308, 10.1007/s10147-004-0414-4

Scheuner, 2010, Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey., Genet Med, 12, 726, 10.1097/GIM.0b013e3181f30e9e

Knudsen, 2003, Attenuated familial adenomatous polyposis (AFAP). A review of the literature., Fam Cancer, 2, 43, 10.1023/A:1023286520725

Burt, 2004, Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis., Gastroenterology, 127, 444, 10.1053/j.gastro.2004.05.003

Al-Tassan, 2002, Inherited variants of MYH associated with somatic G:CT:A mutations in colorectal tumors., Nat Genet, 30, 227, 10.1038/ng828

Perchiniak, 2011, Mechanisms regulating microtubule binding, DNA replication, and apoptosis are controlled by the intestinal tumor suppressor APC., Curr Colorectal Cancer Rep, 7, 145, 10.1007/s11888-011-0088-z

Burt, 2005, Genetic testing for inherited colon cancer., Gastroenterology, 128, 1696, 10.1053/j.gastro.2005.03.036

Aretz, 2004, Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis., Eur J Hum Genet, 12, 52, 10.1038/sj.ejhg.5201088

Aretz, 2007, Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP)., Hum Mutat, 28, 985, 10.1002/humu.20549

Hes, 2008, Somatic APC mosaicism: an underestimated cause of polyposis coli., Gut, 57, 71, 10.1136/gut.2006.117796

Schwab, 2008, Gonadal mosaicism and familial adenomatous polyposis., Fam Cancer, 7, 173, 10.1007/s10689-007-9169-1

Tuohy, 2008, Somatic mosaicism: a cause for unexplained cases of FAP?, Gut, 57, 10, 10.1136/gut.2007.133108

Chung, 2000, The genetic basis of colorectal cancer: insights into critical pathways of tumorigenesis., Gastroenterology, 119, 854, 10.1053/gast.2000.16507

Nagase, 1993, Mutations of the APC (adenomatous polyposis coli) gene., Hum Mutat, 2, 425, 10.1002/humu.1380020602

Groves, 2002, Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis., Am J Pathol, 160, 2055, 10.1016/S0002-9440(10)61155-8

Nieuwenhuis, 2007, Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature., Crit Rev Oncol Hematol, 61, 153, 10.1016/j.critrevonc.2006.07.004

Nielsen, 2007, Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review., Eur J Hum Genet, 15, 1034, 10.1038/sj.ejhg.5201871

Sieber, 2003, Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH., N Engl J Med, 348, 791, 10.1056/NEJMoa025283

Lipton, 2004, The multiple colorectal adenoma phenotype and MYH, a base excision repair gene., Clin Gastroenterol Hepatol, 2, 633, 10.1016/S1542-3565(04)00286-1

Halford, 2003, Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers., Am J Pathol, 162, 1545, 10.1016/S0002-9440(10)64288-5

Nielsen, 2011, MUTYH-associated polyposis (MAP)., Crit Rev Oncol Hematol, 79, 1, 10.1016/j.critrevonc.2010.05.011

Jones, 2002, Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:CT:A mutations., Hum Mol Genet, 11, 2961, 10.1093/hmg/11.23.2961

Sampson, 2003, Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH., The Lancet, 362, 39, 10.1016/S0140-6736(03)13805-6

Enholm, 2003, Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients., Am J Pathol, 163, 827, 10.1016/S0002-9440(10)63443-8

Filipe, 2009, APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas., Clin Genet, 76, 242, 10.1111/j.1399-0004.2009.01241.x

Wang, 2004, MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps., Gastroenterology, 127, 9, 10.1053/j.gastro.2004.03.070

Jo, 2005, Correlation of polyp number and family history of colon cancer with germline MYH mutations., Clin Gastroenterol Hepatol, 3, 1022, 10.1016/S1542-3565(05)00411-8

Venesio, 2004, High frequency of MYH gene mutations in a subset of patients with familial adenomatous polyposis., Gastroenterology, 126, 1681, 10.1053/j.gastro.2004.02.022

Knopperts, 2013, Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review., Fam Cancer, 12, 43, 10.1007/s10689-012-9570-2

Farrington, 2005, Germline susceptibility to colorectal cancer because of base-excision repair gene defects., Am J Hum Genet, 77, 112, 10.1086/431213

Palles, 2012, Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas., Nat Genet, 45, 136, 10.1038/ng.2503

Valle, 2014, New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis., Hum Mol Genet, 23, 3506, 10.1093/hmg/ddu058

Petersen, 1991, Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage., Gastroenterology, 100, 1658, 10.1016/0016-5085(91)90666-9

Giardiello, 1994, Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation., Gastroenterology, 106, 1542, 10.1016/0016-5085(94)90408-1

Roncucci, 1991, Identification and quantification of aberrant crypt foci and microadenomas in the human colon., Hum Pathol, 22, 287, 10.1016/0046-8177(91)90163-J

Jang, 1997, Colorectal cancer in familial adenomatous polyposis., Dis Colon Rectum, 40, 312, 10.1007/BF02050421

Giardiello, 2001, AGA technical review on hereditary colorectal cancer and genetic testing., Gastroenterology, 121, 198, 10.1053/gast.2001.25581

Burt, 2000, Colon cancer screening., Gastroenterology, 119, 837, 10.1053/gast.2000.16508

Guillem, 1999, Gastrointestinal polyposis syndromes., Curr Probl Surg, 36, 217, 10.1016/S0011-3840(99)80013-6

Jasperson, 2010, Hereditary and familial colon cancer., Gastroenterology, 138, 2044, 10.1053/j.gastro.2010.01.054

Vasen, 2008, Guidelines for the clinical management of familial adenomatous polyposis (FAP)., Gut, 57, 704, 10.1136/gut.2007.136127

Bjork, 2000, Risk factors for rectal cancer morbidity and mortality in patients with familial adenomatous polyposis after colectomy and ileorectal anastomosis., Dis Colon Rectum, 43, 1719, 10.1007/BF02236857

Bulow, 2003, Results of national registration of familial adenomatous polyposis., Gut, 52, 742, 10.1136/gut.52.5.742

Heiskanen, 2000, Impact of screening examinations on survival in familial adenomatous polyposis., Scand J Gastroenterol, 35, 1284, 10.1080/003655200453638

Gibbons, 2011, Colorectal cancer: no longer the issue in familial adenomatous polyposis?, Fam Cancer, 10, 11, 10.1007/s10689-010-9394-x

Friedl, 2001, Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families., Gut, 48, 515, 10.1136/gut.48.4.515

Cleary, 2009, Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study., Gastroenterology, 136, 1251, 10.1053/j.gastro.2008.12.050

Nielsen, 2009, Analysis of MUTYH genotypes and colorectal phenotypes in patients with MUTYH-associated polyposis., Gastroenterology, 136, 471, 10.1053/j.gastro.2008.10.056

Lubbe, 2009, Clinical implications of the colorectal cancer risk associated with MUTYH mutation., J Clin Oncol, 27, 3975, 10.1200/JCO.2008.21.6853

Boparai, 2008, Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis., Gastroenterology, 135, 2014, 10.1053/j.gastro.2008.09.020

da Luz Moreira, 2009, The evolution of prophylactic colorectal surgery for familial adenomatous polyposis., Dis Colon Rectum, 52, 1481, 10.1007/DCR.0b013e3181ab58fb

Galiatsatos, 2006, Familial adenomatous polyposis., Am J Gastroenterol, 101, 385, 10.1111/j.1572-0241.2006.00375.x

Nieuwenhuis, 2009, Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery., Dis Colon Rectum, 52, 1259, 10.1007/DCR.0b013e3181a0d33b

Kartheuser, 2006, Restorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited., Fam Cancer, 5, 241, 10.1007/s10689-005-5672-4

Saurin, 2005, Endoscopic management of patients with familial adenomatous polyposis (FAP) following a colectomy., Endoscopy, 37, 499, 10.1055/s-2005-861295

Smith, 2013, Adenocarcinomas after prophylactic surgery for familial adenomatous polyposis., J Cancer Ther, 4, 260, 10.4236/jct.2013.41033

Bulow, 2004, Duodenal adenomatosis in familial adenomatous polyposis., Gut, 53, 381, 10.1136/gut.2003.027771

Lopez-Ceron, 2013, The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis., Gastrointest Endosc, 77, 542, 10.1016/j.gie.2012.11.033

Bjork, 2001, Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations., Gastroenterology, 121, 1127, 10.1053/gast.2001.28707

Latchford, 2009, Features of duodenal cancer in patients with familial adenomatous polyposis., Clin Gastroenterol Hepatol, 7, 659, 10.1016/j.cgh.2009.02.028

Drini, 2012, Management of duodenal adenomatosis in FAP: single centre experience., Fam Cancer, 11, 167, 10.1007/s10689-011-9496-0

Iaquinto, 2008, Capsule endoscopy is useful and safe for small-bowel surveillance in familial adenomatous polyposis., Gastrointest Endosc, 67, 61, 10.1016/j.gie.2007.07.048

Tytgat, 1997, Surveillance of familial adenomatous polyposis patients after ileorectal anastomosis or ileoanal pouch anastomosis., Gastrointest Endosc Clin N Am, 7, 111, 10.1016/S1052-5157(18)30327-1

Alderlieste, 2013, Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis., Fam Cancer, 12, 51, 10.1007/s10689-012-9571-1

Spigelman, 1989, Upper gastrointestinal cancer in patients with familial adenomatous polyposis., Lancet, 2, 783, 10.1016/S0140-6736(89)90840-4

Groves, 2002, Duodenal cancer in patients with familial adenomatous polyposis (FAP): results of a 10 year prospective study., Gut, 50, 636, 10.1136/gut.50.5.636

Saurin, 2004, Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease., J Clin Oncol, 22, 493, 10.1200/JCO.2004.06.028

Burt, 2003, Gastric fundic gland polyps., Gastroenterology, 125, 1462, 10.1016/j.gastro.2003.07.017

Weston, 2003, Positive predictive value of endoscopic features deemed typical of gastric fundic gland polyps., J Clin Gastroenterol, 36, 399, 10.1097/00004836-200305000-00007

Bianchi, 2008, Fundic gland polyp dysplasia is common in familial adenomatous polyposis., Clin Gastroenterol Hepatol, 6, 180, 10.1016/j.cgh.2007.11.018

Zwick, 1997, Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli., Gastroenterology, 113, 659, 10.1053/gast.1997.v113.pm9247488

Hofgartner, 1999, Gastric adenocarcinoma associated with fundic gland polyps in a patient with attenuated familial adenomatous polyposis., Am J Gastroenterol, 94, 2275, 10.1111/j.1572-0241.1999.01312.x

Attard, 2001, Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer., J Pediatr Gastroenterol Nutr, 32, 215, 10.1097/00005176-200102000-00026

Sawada, 1997, Role of upper gastrointestinal surveillance in patients with familial adenomatous polyposis., Gastrointest Endosc Clin N Am, 7, 99, 10.1016/S1052-5157(18)30326-X

Wallace, 1998, Upper gastrointestinal disease in patients with familial adenomatous polyposis., Br J Surg, 85, 742, 10.1046/j.1365-2168.1998.00776.x

Kadmon, 2001, Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register., Int J Colorectal Dis, 16, 63, 10.1007/s003840100290

Kurtz, 1987, Upper gastrointestinal neoplasia in familial polyposis., Dig Dis Sci, 32, 459, 10.1007/BF01296027

Jagelman, 1988, Upper gastrointestinal cancer in familial adenomatous polyposis., Lancet, 1, 1149, 10.1016/S0140-6736(88)91962-9

Walsh, 1987, Biliary neoplasia in Gardners syndrome., Arch Pathol Lab Med, 111, 76

Brevet, 2007, Adenomatous polyposis of the gallbladder and Gardners syndrome. A rare association., Gastroenterol Clin Biol, 31, 425, 10.1016/S0399-8320(07)89404-8

Herraiz, 2007, Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations., Clin Gastroenterol Hepatol, 5, 367, 10.1016/j.cgh.2006.10.019

Cetta, 2000, Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study., J Clin Endocrinol Metabol, 85, 286

Giardiello, 1996, Hepatoblastoma and APC gene mutation in familial adenomatous polyposis., Gut, 39, 867, 10.1136/gut.39.6.867

Vogt, 2009, Expanded extracolonic tumor spectrum in MUTYH-associated polyposis., Gastroenterology, 137, 1976, 10.1053/j.gastro.2009.08.052

Parc, 2001, Familial adenomatous polyposis: prevalence of adenomas in the ileal pouch after restorative proctocolectomy., Ann Surg, 233, 360, 10.1097/00000658-200103000-00009

Groves, 2005, Prevalence and morphology of pouch and ileal adenomas in familial adenomatous polyposis., Dis Colon Rectum, 48, 816, 10.1007/s10350-004-0835-1

Friederich, 2008, Risk of developing adenomas and carcinomas in the ileal pouch in patients with familial adenomatous polyposis., Clin Gastroenterol Hepatol, 6, 1237, 10.1016/j.cgh.2008.06.011

Tajika, 2009, Prevalence of adenomas and carcinomas in the ileal pouch after proctocolectomy in patients with familial adenomatous polyposis., J Gastrointest Surg, 13, 1266, 10.1007/s11605-009-0871-1

Campos, 2009, Rectal and pouch recurrences after surgical treatment for familial adenomatous polyposis., J Gastrointest Surg, 13, 129, 10.1007/s11605-008-0606-8

Church, 2005, Ileoanal pouch neoplasia in familial adenomatous polyposis: an underestimated threat., Dis Colon Rectum, 48, 1708, 10.1007/s10350-005-0057-1

Jeghers, 1949, Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance., N Engl J Med, 241, 993, 10.1056/NEJM194912222412501

Beggs, 2010, Peutz-Jeghers syndrome: a systematic review and recommendations for management., Gut, 59, 975, 10.1136/gut.2009.198499

Schreibman, 2005, The hamartomatous polyposis syndromes: a clinical and molecular review., Am J Gastroenterol, 100, 476, 10.1111/j.1572-0241.2005.40237.x

Jasperson, 2007, Inherited risk for colorectal cancer: practical approaches for identification, referral and management., Pract Gastroenterol, 31, 37

Giardiello, 2006, Peutz-Jeghers syndrome and management recommendations., Clin Gastroenterol Hepatol, 4, 408, 10.1016/j.cgh.2005.11.005

McGarrity, 2000, Peutz-Jeghers syndrome., Am J Gastroenterol, 95, 596, 10.1111/j.1572-0241.2000.01831.x

Amos, 2004, Genotype-phenotype correlations in Peutz-Jeghers syndrome., J Hum Genet, 41, 327

van Lier, 2011, High cumulative risk of intussusception in patients with peutz-jeghers syndrome: time to update surveillance guidelines?, Am J Gastroenterol, 106, 940, 10.1038/ajg.2010.473

Aretz, 2005, High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome., Hum Mutat, 26, 513, 10.1002/humu.20253

Volikos, 2006, LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome., J Med Genet, 43, e18, 10.1136/jmg.2005.039875

Mehenni, 2007, Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome., Dig Dis Sci, 52, 1924, 10.1007/s10620-006-9435-3

Calva, 2008, Hamartomatous polyposis syndromes., Surg Clin North Am, 88, 779, 10.1016/j.suc.2008.05.002

Gammon, 2009, Hamartomatous polyposis syndromes., Best Pract Res Clin Gastroenterol, 23, 219, 10.1016/j.bpg.2009.02.007

Hearle, 2006, Frequency and spectrum of cancers in the Peutz-Jeghers syndrome., Clin Cancer Res, 12, 3209, 10.1158/1078-0432.CCR-06-0083

Mehenni, 2006, Cancer risks in LKB1 germline mutation carriers., Gut, 55, 984, 10.1136/gut.2005.082990

Giardiello, 2000, Very high risk of cancer in familial Peutz-Jeghers syndrome., Gastroenterology, 119, 1447, 10.1053/gast.2000.20228

Lim, 2004, Relative frequency and morphology of cancers in stk11 mutation carriers., Gastroenterology, 126, 1788, 10.1053/j.gastro.2004.03.014

Ulbright, 2007, Intratubular large cell hyalinizing sertoli cell neoplasia of the testis: a report of 8 cases of a distinctive lesion of the Peutz-Jeghers syndrome., Am J Surg Pathol, 31, 827, 10.1097/PAS.0b013e3180309e33

You, 2010, Peutz-Jeghers syndrome: a study of long-term surgical morbidity and causes of mortality., Fam Cancer, 9, 609, 10.1007/s10689-010-9358-1

Amaro, 2000, Peutz-Jeghers syndrome managed with a complete intraoperative endoscopy and extensive polypectomy., Gastrointest Endosc, 52, 552, 10.1067/mge.2000.107213

Parsi, 2004, Utility of capsule endoscopy in Peutz-Jeghers syndrome., Gastrointest Endosc Clin N Am, 14, 159, 10.1016/j.giec.2003.10.012

Burke, 2005, The utility of capsule endoscopy small bowel surveillance in patients with polyposis., Am J Gastroenterol, 100, 1498, 10.1111/j.1572-0241.2005.41506.x

Ohmiya, 2005, Endoscopic resection of Peutz-Jeghers polyps throughout the small intestine at double-balloon enteroscopy without laparotomy., Gastrointest Endosc, 61, 140, 10.1016/S0016-5107(04)02457-5

May, 2005, Double-balloon enteroscopy (push-and-pull enteroscopy) of the small bowel: feasibility and diagnostic and therapeutic yield in patients with suspected small bowel disease., Gastrointest Endosc, 62, 62, 10.1016/S0016-5107(05)01586-5

Udd, 2004, Suppression of PeutzJeghers polyposis by inhibition of cyclooxygenase-2., Gastroenterology, 127, 1030, 10.1053/j.gastro.2004.07.059

Wei, 2008, Suppression of Peutz-Jeghers polyposis by targeting mammalian target of rapamycin signaling., Clin Cancer Res, 14, 1167, 10.1158/1078-0432.CCR-07-4007

Chow, 2005, A review of juvenile polyposis syndrome., J Gastroenterol Hepatol, 20, 1634, 10.1111/j.1440-1746.2005.03865.x

Boardman, 2002, Heritable colorectal cancer syndromes: recognition and preventive management., Gastroenterol Clin North Am, 31, 1107, 10.1016/S0889-8553(02)00049-3

Latchford, 2012, Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome., Dis Colon Rectum, 55, 1038, 10.1097/DCR.0b013e31826278b3

Howe, 2001, Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis., Nat Genet, 28, 184, 10.1038/88919

Howe, 1998, A gene for familial juvenile polyposis maps to chromosome 18q21.1., Am J Hum Genet, 62, 1129, 10.1086/301840

Howe, 1998, Mutations in the SMAD4DPC4 gene in juvenile polyposis., Science, 280, 1086, 10.1126/science.280.5366.1086

Zhou, 2001, Germline mutations in BMPR1AALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes., Am J Hum Genet, 69, 704, 10.1086/323703

Aretz, 2007, High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome., J Med Genet, 44, 702, 10.1136/jmg.2007.052506

Calva-Cerqueira, 2010, Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis., Hum Mol Genet, 19, 4654, 10.1093/hmg/ddq396

van Hattem, 2008, Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis., Gut, 57, 623, 10.1136/gut.2007.142927

He, 2004, BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling., Nat Genet, 36, 1117, 10.1038/ng1430

Hardwick, 2004, Bone morphogenetic protein 2 is expressed by, and acts upon, mature epithelial cells in the colon., Gastroenterology, 126, 111, 10.1053/j.gastro.2003.10.067

Brosens, 2007, Risk of colorectal cancer in juvenile polyposis., Gut, 56, 965, 10.1136/gut.2006.116913

Wirtzfeld, 2001, Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations., Ann Surg Oncol, 8, 319, 10.1007/s10434-001-0319-7

Heald, 2010, Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers., Gastroenterology, 139, 1927, 10.1053/j.gastro.2010.06.061

Stanich, 2011, Colonic polyposis and neoplasia in Cowden syndrome., Mayo Clin Proc, 86, 489, 10.4065/mcp.2010.0816

Trufant, 2012, Colonic ganglioneuromatous polyposis and metastatic adenocarcinoma in the setting of Cowden syndrome: a case report and literature review., Hum Pathol, 43, 601, 10.1016/j.humpath.2011.06.022

Levi, 2011, Upper and lower gastrointestinal findings in PTEN mutation-positive Cowden syndrome patients participating in an active surveillance program., Clin Transl Gastroenterol, 17, 4

Pilarski, 2009, Cowden syndrome: a critical review of the clinical literature., J Genet Couns, 18, 13, 10.1007/s10897-008-9187-7

McGarrity, 2003, GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations., Am J Gastroenterol, 98, 1429, 10.1111/j.1572-0241.2003.07496.x

Al-Thihli, 2009, A case of Cowdens syndrome presenting with gastric carcinomas and gastrointestinal polyposis., Nat Clin Pract Gastroenterol Hepatol, 6, 184, 10.1038/ncpgasthep1359

Liaw, 1997, Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome., Nat Genet, 16, 64, 10.1038/ng0597-64

Lynch, 1997, Inherited mutations in PTEN that are associated with breast cancer, Cowden disease, and juvenile polyposis., Am J Hum Genet, 61, 1254, 10.1086/301639

Nelen, 1996, Localization of the gene for Cowden disease to chromosome 10q22-23., Nat Genet, 13, 114, 10.1038/ng0596-114

Nelen, 1997, Germline mutations in the PTENMMAC1 gene in patients with Cowden disease., Hum Mol Genet, 6, 1383, 10.1093/hmg/6.8.1383

Tan, 2012, Lifetime cancer risks in individuals with germline PTEN mutations., Clin Cancer Res, 18, 400, 10.1158/1078-0432.CCR-11-2283

Riegert-Johnson, 2010, Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients., Hered Cancer Clin Pract, 8, 1897, 10.1186/1897-4287-8-6

Hyman, 2004, Hyperplastic polyposis and the risk of colorectal cancer., Dis Colon Rectum, 47, 2101, 10.1007/s10350-004-0709-6

Leggett, 2001, Hyperplastic polyposis: association with colorectal cancer., Am J Surg Pathol, 25, 177, 10.1097/00000478-200102000-00005

Chow, 2006, Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH., Gastroenterology, 131, 30, 10.1053/j.gastro.2006.03.046

Orlowska, 2012, Hyperplastic polyposis syndrome and the risk of colorectal cancer., Gut, 61, 470, 10.1136/gutjnl-2011-300141

Biswas, 2013, High prevalence of hyperplastic polyposis syndrome (serrated polyposis) in the NHS bowel cancer screening programme., Gut, 62, 475, 10.1136/gutjnl-2012-303233

Moreira, 2013, High prevalence of serrated polyposis syndrome in FIT-based colorectal cancer screening programmes., Gut, 62, 476, 10.1136/gutjnl-2012-303496

Buchanan, 2009, A perspective on bi-allelic MUTYH mutations in patients with hyperplastic polyposis syndrome., Gastroenterology, 136, 2407, 10.1053/j.gastro.2008.12.076

Walker, 2010, Hyperplastic polyposis syndrome is associated with cigarette smoking, which may be a modifiable risk factor., Am J Gastroenterol, 105, 1642, 10.1038/ajg.2009.757

Buchanan, 2010, Phenotypic diversity in patients with multiple serrated polyps: a genetics clinic study., Int J Colorectal Dis, 25, 703, 10.1007/s00384-010-0907-8

Kalady, 2011, Defining phenotypes and cancer risk in hyperplastic polyposis syndrome., Dis Colon Rectum, 54, 164, 10.1007/DCR.0b013e3181fd4c15

Win, 2012, Cancer risks for relatives of patients with serrated polyposis., Am J Gastroenterol, 107, 770, 10.1038/ajg.2012.52

Lanspa, 2012, Editorial: serrated polyposis: the last (or only the latest?) frontier of familial polyposis?, Am J Gastroenterol, 107, 779, 10.1038/ajg.2012.62

Rosty, 2011, Serrated polyposis: an enigmatic model of colorectal cancer predisposition., Patholog Res Int, 2011, 157073

Boparai, 2009, Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study., Gut, 59, 1094, 10.1136/gut.2009.185884

Rosty, 2012, Phenotype and polyp landscape in serrated polyposis syndrome: a series of 100 patients from genetics clinics., Am J Surg Pathol, 36, 876, 10.1097/PAS.0b013e31824e133f

Young, 2010, Risk factors: hyperplastic polyposis syndrome and risk of colorectal cancer., Nat Rev Gastroenterol Hepatol, 7, 594, 10.1038/nrgastro.2010.166

Hazewinkel, 2013, Extracolonic cancer risk in patients with serrated polyposis syndrome and their first-degree relatives., Fam Cancer, 12, 669, 10.1007/s10689-013-9643-x

Oquinena, 2013, Serrated polyposis: prospective study of first-degree relatives., Eur J Gastroenterol Hepatol, 25, 28, 10.1097/MEG.0b013e3283598506

Boparai, 2010, Increased colorectal cancer risk in first-degree relatives of patients with hyperplastic polyposis syndrome., Gut, 59, 1222, 10.1136/gut.2009.200741

Brand, 2007, Advances in counselling and surveillance of patients at risk for pancreatic cancer., Gut, 56, 1460, 10.1136/gut.2006.108456

Ellis, 2001, Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues., Pancreatology, 1, 405, 10.1159/000055840

Lowenfels, 1997, Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group., J Natl Cancer Inst, 89, 442, 10.1093/jnci/89.6.442

Vasen, 2000, Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden)., Int J Cancer, 87, 809, 10.1002/1097-0215(20000915)87:6<809::AID-IJC8>3.0.CO;2-U

Goldstein, 1995, Increased risk of pancreatic cancer in melanoma-prone kindreds with p16INK4 mutations., N Engl J Med, 333, 970, 10.1056/NEJM199510123331504

Borg, 2000, High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families., J Natl Cancer Inst, 92, 1260, 10.1093/jnci/92.15.1260

Thompson, 2002, Cancer incidence in BRCA1 mutation carriers., J Natl Cancer Inst, 94, 1358, 10.1093/jnci/94.18.1358

1999, The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers., J Natl Cancer Inst, 91, 1310, 10.1093/jnci/91.15.1310

van Asperen, 2005, Cancer risks in BRCA2 families: estimates for sites other than breast and ovary., J Med Genet, 42, 711, 10.1136/jmg.2004.028829

Kastrinos, 2009, Risk of pancreatic cancer in families with Lynch syndrome., JAMA, 302, 1790, 10.1001/jama.2009.1529

Geoffroy-Perez, 2001, Cancer risk in heterozygotes for ataxia-telangiectasia., Int J Cancer, 93, 288, 10.1002/ijc.1329

Brand, 2000, Hereditary pancreatic adenocarcinoma: a clinical perspective., Med Clin N Am, 84, 665, 10.1016/S0025-7125(05)70249-2

Permuth-Wey, 2009, Family history is a significant risk factor for pancreatic cancer: results from a systematic review and meta-analysis., Fam Cancer, 8, 109, 10.1007/s10689-008-9214-8

Klein, 2002, Evidence for a major gene influencing risk of pancreatic cancer., Genet Epidemiol, 23, 133, 10.1002/gepi.1102

Klein, 2004, Prospective risk of pancreatic cancer in familial pancreatic cancer kindreds., Cancer Res, 64, 2634, 10.1158/0008-5472.CAN-03-3823

Brune, 2010, Importance of age of onset in pancreatic cancer kindreds., J Natl Cancer Inst, 102, 119, 10.1093/jnci/djp466

Wang, 2007, PancPRO: risk assessment for individuals with a family history of pancreatic cancer., J Clin Oncol, 25, 1417, 10.1200/JCO.2006.09.2452

Lal, 2000, Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations., Cancer Res, 60, 409

McWilliams, 2011, Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling., Eur J Hum Genet, 19, 472, 10.1038/ejhg.2010.198

Ghiorzo, 2012, CDKN2A is the main susceptibility gene in Italian pancreatic cancer families., J Med Genet, 49, 164, 10.1136/jmedgenet-2011-100281

Pogue-Geile, 2006, Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism., PLoS Med, 3, e516, 10.1371/journal.pmed.0030516

Roberts, 2012, ATM mutations in patients with hereditary pancreatic cancer., Cancer Discov, 2, 41, 10.1158/2159-8290.CD-11-0194

Harinck, 2012, Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated., Eur J Hum Genet, 20, 577, 10.1038/ejhg.2011.226

Jones, 2009, Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene., Science, 324, 217, 10.1126/science.1171202

Axilbund, 2009, Absence of germline BRCA1 mutations in familial pancreatic cancer patients., Cancer Biol Ther, 8, 131, 10.4161/cbt.8.2.7136

Couch, 2007, The prevalence of BRCA2 mutations in familial pancreatic cancer., Cancer Epidemiol Biomarkers Prev, 16, 342, 10.1158/1055-9965.EPI-06-0783

Schneider, 2011, German national case collection for familial pancreatic cancer (FaPaCa): ten years experience., Fam Cancer, 10, 323, 10.1007/s10689-010-9414-x

Klein, 2009, Absence of deleterious palladin mutations in patients with familial pancreatic cancer., Cancer Epidemiol Biomarkers Prev, 18, 1328, 10.1158/1055-9965.EPI-09-0056

Slater, 2007, Palladin mutation causes familial pancreatic cancer: absence in European families., PLoS Med, 4, e164, 10.1371/journal.pmed.0040164

Bartsch, 2012, Familial pancreatic cancercurrent knowledge., Nat Rev Gastroenterol Hepatol, 9, 445, 10.1038/nrgastro.2012.111

Grover, 2010, Hereditary pancreatic cancer., Gastroenterology, 139, 1076, 10.1053/j.gastro.2010.08.012

Nishihara, 2013, Long-term colorectal-cancer incidence and mortality after lower endoscopy., N Engl J Med, 369, 1095, 10.1056/NEJMoa1301969

Ludwig, 2011, Feasibility and yield of screening in relatives from familial pancreatic cancer families., Am J Gastroenterol, 106, 946, 10.1038/ajg.2011.65

Anderson, 2012, Alcohol and tobacco lower the age of presentation in sporadic pancreatic cancer in a dose-dependent manner: a multicenter study., Am J Gastroenterol, 107, 1730, 10.1038/ajg.2012.288

Brand, 2009, Pancreatic cancer patients who smoke and drink are diagnosed at younger ages., Clin Gastroenterol Hepatol, 7, 1007, 10.1016/j.cgh.2009.06.008

Lowenfels, 2001, Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis., JAMA, 286, 169, 10.1001/jama.286.2.169

Vasen, 2011, Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation., Gastroenterology, 140, 850, 10.1053/j.gastro.2010.11.048

Tanaka, 2012, International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas., Pancreatology, 12, 183, 10.1016/j.pan.2012.04.004

Rulyak, 2003, Risk factors for the development of pancreatic cancer in familial pancreatic cancer kindreds., Gastroenterology, 124, 1292, 10.1016/S0016-5085(03)00272-5

Jones, 1964, Familial gastric cancer., N Z Med J, 63, 287

Seevaratnam, 2012, A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer., Gastric Cancer, 15, 10, 10.1007/s10120-011-0116-3

Guilford, 1998, E-cadherin germline mutations in familial gastric cancer., Nature, 392, 402, 10.1038/32918

Gayther, 1998, Identification of germ-line E-cadherin mutations in gastric cancer families of European origin., Cancer Res, 58, 4086

Guilford, 1999, E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer., Hum Mutat, 14, 249, 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9

Richards, 1999, Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer., Hum Mol Genet, 8, 607, 10.1093/hmg/8.4.607

Blair, 2006, Hereditary diffuse gastric cancer: diagnosis and management., Clin Gastroenterol Hepatol, 4, 262, 10.1016/j.cgh.2005.12.003

Pharoah, 2001, Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families., Gastroenterology, 121, 1348, 10.1053/gast.2001.29611

Fitzgerald, 2010, Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research., J Med Genet, 47, 436, 10.1136/jmg.2009.074237

Brooks-Wilson, 2004, Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria., J Med Genet, 41, 508, 10.1136/jmg.2004.018275

Caldas, 1999, Familial gastric cancer: overview and guidelines for management., J Med Genet, 36, 873

Iwama, 1993, The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment., Ann Surg, 217, 101, 10.1097/00000658-199302000-00002

Lynch, 1995, Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP., Cancer, 76, 2427, 10.1002/1097-0142(19951215)76:12<2427::AID-CNCR2820761205>3.0.CO;2-B

Neklason, 2008, American founder mutation for attenuated familial adenomatous polyposis., Clin Gastroenterol Hepatol, 6, 46, 10.1016/j.cgh.2007.09.017

Nielsen, 2007, Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis., Clin Genet, 71, 427, 10.1111/j.1399-0004.2007.00766.x

Giardiello, 1991, Colorectal neoplasia in juvenile polyposis or juvenile polyps., Arch Dis Child, 66, 971, 10.1136/adc.66.8.971

Howe, 1998, The risk of gastrointestinal carcinoma in familial juvenile polyposis., Ann Surg Oncol, 5, 751, 10.1007/BF02303487

Jass, 1988, Juvenile polyposisa precancerous condition., Histopathology, 13, 619, 10.1111/j.1365-2559.1988.tb02093.x

Marra, 1994, Cowdens disease with extensive gastrointestinal polyposis., J Clin Gastroenterol, 18, 42, 10.1097/00004836-199401000-00011

Vasen, 1990, The value of screening and central registration of families with familial adenomatous polyposis. A study of 82 families in The Netherlands., Dis Colon Rectum, 33, 227, 10.1007/BF02134185

Nascimbeni, 2010, Rectum-sparing surgery may be appropriate for biallelic MutYH-associated polyposis., Dis Colon Rectum, 53, 1670, 10.1007/DCR.0b013e3181ee3d6b

Nielsen, 2010, Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients., J Natl Cancer Inst, 102, 1724, 10.1093/jnci/djq370

Ponti, 2006, Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas., J Invest Dermatol, 126, 2302, 10.1038/sj.jid.5700475

Schwartz, 1995, The Muir-Torre syndrome: a 25-year retrospect., J Am Acad Dermatol, 33, 90, 10.1016/0190-9622(95)90017-9

South, 2008, The frequency of Muir-Torre syndrome among Lynch syndrome families., J Natl Cancer Inst, 100, 277, 10.1093/jnci/djm291

Grindedal, 2009, Germ-line mutations in mismatch repair genes associated with prostate cancer., Cancer Epidemiol Biomark Prev, 18, 2460, 10.1158/1055-9965.EPI-09-0058

Heiskanen, 1999, Management of duodenal adenomas in 98 patients with familial adenomatous polyposis., Endoscopy, 31, 412, 10.1055/s-1999-41

Giardiello, 1993, Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis., Gut, 34, 1394, 10.1136/gut.34.10.1394

Truta, 2003, Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma., Fam Cancer, 2, 95, 10.1023/A:1025762706854

Hamilton, 1995, The molecular basis of Turcots syndrome., N Engl J Med, 332, 839, 10.1056/NEJM199503303321302

Paraf, 1997, Brain tumor-polyposis syndrome: two genetic diseases?, J Clin Oncol, 15, 2744, 10.1200/JCO.1997.15.7.2744

Van Meir, 1998, Turcots syndrome: phenotype of brain tumors, survival and mode of inheritance., Int J Cancer, 75, 162, 10.1002/(SICI)1097-0215(19980105)75:1<162::AID-IJC26>3.0.CO;2-H

Korsse, 2013, Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance., J Med Genet, 50, 59, 10.1136/jmedgenet-2012-101277

Chen, 1986, Female genital tract tumors in Peutz-Jeghers syndrome., Hum Pathol, 17, 858, 10.1016/S0046-8177(86)80208-8

Brownstein, 1978, Cowdens disease: a cutaneous marker of breast cancer., Cancer, 41, 2393, 10.1002/1097-0142(197806)41:6<2393::AID-CNCR2820410644>3.0.CO;2-K

Bubien, 2013, High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome., J Med Genet, 50, 255, 10.1136/jmedgenet-2012-101339

Starink, 1986, The Cowden syndrome: a clinical and genetic study in 21 patients., Clin Genet, 29, 222, 10.1111/j.1399-0004.1986.tb00816.x

Eng, 1997, Cowden syndrome., J Genet Counsel, 6, 181, 10.1023/A:1025664119494

Milas, 2012, Should patients with Cowden syndrome undergo prophylactic thyroidectomy?, Surgery, 152, 1201, 10.1016/j.surg.2012.08.055

Eng, 2000, Will the real Cowden syndrome please stand up: revised diagnostic criteria., J Med Genet, 37, 828, 10.1136/jmg.37.11.828

Pilarski, 2004, Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome., J Med Genet, 41, 323, 10.1136/jmg.2004.018036

Rijcken, 2003, Gynecologic screening in hereditary nonpolyposis colorectal cancer., Gynecol Oncol, 91, 74, 10.1016/S0090-8258(03)00371-8

Lecuru, 2008, Performance of office hysteroscopy and endometrial biopsy for detecting endometrial disease in women at risk of human non-polyposis colon cancer: a prospective study., Int J Gynecol Cancer, 18, 1326, 10.1111/j.1525-1438.2007.01183.x

Gerritzen, 2009, Improvement of endometrial biopsy over transvaginal ultrasound alone for endometrial surveillance in women with Lynch syndrome., Fam Cancer, 8, 391, 10.1007/s10689-009-9252-x

Stuckless, 2013, Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation., Clin Genet, 83, 359, 10.1111/j.1399-0004.2012.01929.x

Renkonen-Sinisalo, 2002, No support for endoscopic surveillance for gastric cancer in hereditary non-polyposis colorectal cancer., Scand J Gastroenterol, 37, 574, 10.1080/00365520252903134

Biasco, 2006, Impact of surgery on the development of duodenal cancer in patients with familial adenomatous polyposis., Dis Colon Rectum, 49, 1860, 10.1007/s10350-006-0723-y

Jarrar, 2011, Screening for thyroid cancer in patients with familial adenomatous polyposis., Ann Surg, 253, 515, 10.1097/SLA.0b013e3181fcba8a

Latchford, 2011, Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance., Dis Colon Rectum, 54, 1547, 10.1097/DCR.0b013e318233a11f

Brown, 2006, Video capsule endoscopy in peutz-jeghers syndrome: a blinded comparison with barium follow-through for detection of small-bowel polyps., Endoscopy, 38, 385, 10.1055/s-2006-925028

Gupta, 2010, A prospective study of MR enterography versus capsule endoscopy for the surveillance of adult patients with Peutz-Jeghers syndrome., AJR Am J Roentgenol, 195, 108, 10.2214/AJR.09.3174

Poley, 2009, The yield of first-time endoscopic ultrasonography in screening individuals at a high risk of developing pancreatic cancer., Am J Gastroenterol, 104, 2175, 10.1038/ajg.2009.276

Lindor, 2006, Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review., JAMA, 296, 1507, 10.1001/jama.296.12.1507

Lynch, 2008, Hereditary colorectal cancer syndromes: molecular genetics, genetic counseling, diagnosis and management., Fam Cancer, 7, 27, 10.1007/s10689-007-9165-5

Faughnan, 2011, International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia., J Med Genet, 48, 73, 10.1136/jmg.2009.069013

Kastrinos, 2009, Risk of pancreatic cancer in families with Lynch syndrome., JAMA, 302, 1790, 10.1001/jama.2009.1529

Slater, 2007, Palladin mutation causes familial pancreatic cancer: absence in European families., PLoS Med, 4, e164, 10.1371/journal.pmed.0040164

Robson, 2010, American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility., J Clin Oncol, 28, 893, 10.1200/JCO.2009.27.0660