Counselling framework for moderate-penetrance cancer-susceptibility mutations
Tóm tắt
Từ khóa
Tài liệu tham khảo
Knudson, A. G. Jr Mutation and cancer: statistical study of retinoblastoma. Proc. Natl Acad. Sci. USA 68, 820–823 (1971).
Domchek, S. M. et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304, 967–975 (2010).
Easton, D. F. et al. Gene-panel sequencing and the prediction of breast-cancer risk. N. Engl. J. Med. 372, 2243–2257 (2015).
Offit, K. & Garber, J. E. Time to check CHEK2 in families with breast cancer? J. Clin. Oncol. 26, 519–520 (2008).
Robson, M. CHEK2, breast cancer, and the understanding of clinical utility. Clin. Genet. 78, 8–10 (2010).
Kurian, A. W. et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J. Clin. Oncol. 32, 2001–2009 (2014).
Couch, F. J. et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J. Clin. Oncol. 33, 304–311 (2015).
Cragun, D. et al. Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. Clin. Genet. 86, 510–520 (2014).
LaDuca, H. et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. Genet. Med. 16, 830–837 (2014).
Lincoln, S. E. et al. A systematic comparison of traditional and multigene panel testing for hereditary breast and ovarian cancer genes in more than 1000 patients. J. Mol. Diagn. 17, 533–544 (2015).
Maxwell, K. N. et al. Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. Genet. Med. 17, 630–638 (2015).
Minion, L. E. et al. Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2. Gynecol. Oncol. 137, 86–92 (2015).
Tung, N. et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121, 25–33 (2015).
Walsh, T. et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc. Natl Acad. Sci. USA 108, 18032–18037 (2011).
Yurgelun, M. B. et al. Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology 149, 604–613 e20 (2015).
Domchek, S. M., Bradbury, A., Garber, J. E., Offit, K. & Robson, M. E. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J. Clin. Oncol. 31, 1267–1270 (2013).
Desmond, A. et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol. 1, 943–951 (2015).
Rosenthal, E. T. et al. Outcomes of clinical testing for 50,000 patients utilizing a panel of 25 genes associated with increased risk for breast, ovarian, colorectal, endometrial, gastric, pancreatic, melanoma, and prostate cancers [abstract]. J. Clin. Oncol. 33, 1515 (2015).
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: breast and ovarian. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf (2016).
Easton, D. F. et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J. Med. Genet. http://dx.doi.org/10.1136/jmedgenet-2015-103529 (2016).
Loveday, C. et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat. Genet. 43, 879–882 (2011).
Loveday, C. et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat. Genet. 44, 475–476; author reply 476 (2012).
Rafnar, T. et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat. Genet. 43, 1104–1107 (2011).
Cybulski, C. et al. Germline RECQL mutations are associated with breast cancer susceptibility. Nat. Genet. 47, 643–646 (2015).
Dreijerink, K. M., Goudet, P., Burgess, J. R. & Valk, G. D. & International Breast Cancer in MEN1 Study Group. Breast-cancer predisposition in multiple endocrine neoplasia type 1. N. Engl. J. Med. 371, 583–584 (2014).
Park, D. J. et al. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discov. 4, 804–815 (2014).
Ramus, S. J. et al. Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. J. Natl Cancer Inst. 107, djv214 (2015).
Song, H. et al. Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population. J. Clin. Oncol. 33, 2901–2907 (2015).
Norquist, B. M. et al. Inherited mutations in women with ovarian carcinoma. JAMA Oncol. 2, 482–490 (2016).
Baysal, B. E. et al. Analysis of CHEK2 gene for ovarian cancer susceptibility. Gynecol. Oncol. 95, 62–69 (2004).
Thompson, D. et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J. Natl Cancer Inst. 97, 813–822 (2005).
Johns, L. E. & Houlston, R. S. A systematic review and meta-analysis of familial colorectal cancer risk. Am. J. Gastroenterol. 96, 2992–3003 (2001).
Ma, X., Zhang, B. & Zheng, W. Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Gut 63, 326–336 (2014).
Grant, R. C. et al. Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. Gastroenterology 148, 556–564 (2015).
Helgason, H. et al. Loss-of-function variants in ATM confer risk of gastric cancer. Nat. Genet. 47, 906–910 (2015).
Naslund-Koch, C., Nordestgaard, B. G. & Bojesen, S. E. Increased risk for other cancers in addition to breast cancer for CHEK2*1100delC heterozygotes estimated from the Copenhagen general population study. J. Clin. Oncol. http://dx.doi.org/10.1200/JCO.2015.63.3594 (2016).
Roberts, N. J. et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2, 41–46 (2012).
Zhen, D. B. et al. BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 17, 569–577 (2015).
Howlader, N. et al. SEER cancer statistics review, 1975–2012. National Cancer Institute http://seer.cancer.gov/csr/1975_2012/ (2015).
CHEK2 Breast Cancer Case–Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am. J. Hum. Genet. 74, 1175–1182 (2004).
Antoniou, A. C. et al. Breast-cancer risk in families with mutations in PALB2. N. Engl. J. Med. 371, 497–506 (2014).
Southey, M. C. et al. A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Res. 12, R109 (2010).
Bernstein, J. L. et al. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. Hum. Mutat. 27, 1122–1128 (2006).
Huijts, P. E. et al. CHEK2*1100delC homozygosity in the Netherlands — prevalence and risk of breast and lung cancer. Eur. J. Hum. Genet. 22, 46–51 (2014).
Adank, M. A. et al. CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women. J. Med. Genet. 48, 860–863 (2011).
Shaag, A. et al. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum. Mol. Genet. 14, 555–563 (2005).
Han, F. F., Guo, C. L. & Liu, L. H. The effect of CHEK2 variant I157T on cancer susceptibility: evidence from a meta-analysis. DNA Cell Biol. 32, 329–335 (2013).
Adank, M. A. et al. Excess breast cancer risk in first degree relatives of CHEK2*1100delC positive familial breast cancer cases. Eur. J. Cancer 49, 1993–1999 (2013).
Mainiero, M. B. et al. ACR appropriateness criteria breast cancer screening. J. Am. Coll. Radiol 10, 11–14 (2013).
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: breast cancer screening and diagnosis, version 1. http://www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf (2015).
National Institute for Health and Care Excellence. Familial breast cancer: classification, care, and managing breast cancer and related risks in people with a family history of breast cancer. http://www.nice.org.uk/guidance/CG164 (2013).
Warner, E. et al. Systematic review: using magnetic resonance imaging to screen women at high risk for breast cancer. Ann. Intern. Med. 148, 671–679 (2008).
Warner, E. et al. Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging. J. Clin. Oncol. 29, 1664–1669 (2011).
Thomssen, C. & Harbeck, N. Update 2010 of the German AGO Recommendations for the Diagnosis and Treatment of Early and Metastatic Breast Cancer — chapter B: prevention, early detection, lifestyle, premalignant lesions, DCIS, recurrent and metastatic breast cancer. Breast Care (Basel) 5, 345–351 (2010).
Saadatmand, S. et al. Survival benefit in women with BRCA1 mutation or familial risk in the MRI screening study (MRISC). Int. J. Cancer 137, 1729–1738 (2015).
Heijnsdijk, E. A. et al. Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol. Biomarkers Prev. 21, 1458–1468 (2012).
Saslow, D. et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J. Clin. 57, 75–89 (2007).
Quante, A. S. et al. Practical problems with clinical guidelines for breast cancer prevention based on remaining lifetime risk. J. Natl Cancer Inst. 107, djv124 (2015).
King, T. A. et al. Lobular carcinoma in situ: a 29-year longitudinal experience evaluating clinicopathologic features and breast cancer risk. J. Clin. Oncol. 33, 3945–3952 (2015).
Fisher, B. et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J. Natl Cancer Inst. 90, 1371–1388 (1998).
Coopey, S. B. et al. The role of chemoprevention in modifying the risk of breast cancer in women with atypical breast lesions. Breast Cancer Res. Treat. 136, 627–633 (2012).
Concannon, P. et al. Variants in the ATM gene associated with a reduced risk of contralateral breast cancer. Cancer Res. 68, 6486–6491 (2008).
Bernstein, J.L. et al. Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. J Natl Cancer Inst 102, 475–83 (2010).
Weischer, M. et al. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J. Clin. Oncol. 30, 4308–4316 (2012).
Jervis, S. et al. Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants. J. Med. Genet. 51, 108–113 (2014).
Antoniou, A. et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am. J. Hum. Genet. 72, 1117–1130 (2003).
Jacobs, I. J. et al. Ovarian cancer screening and mortality in the UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS): a randomised controlled trial. Lancet 387, 945–956 (2016).
Liang, J. et al. APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis. Am. J. Epidemiol. 177, 1169–1179 (2013).