Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1in a patient with bilateral breast and endometrial adenocarcinoma
Tóm tắt
Từ khóa
Tài liệu tham khảo
Weitzel JN, Blazer KR, Macdonald DJ, Culver JO, Offit K: Genetics, genomics, and cancer risk assessment: state of the art and future directions in the Era of personalized medicine. CA Cancer J Clin. 2011, 61: 327-359.
Speicher MR, Geigl JB, Tomlinson IP: Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk. Lancet Oncol. 2010, 11: 890-898. 10.1016/S1470-2045(09)70359-6.
Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME: Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?. J Clin Oncol. 2013, 31: 1267-1270. 10.1200/JCO.2012.46.9403.
Shannon KM, Chittenden A: Genetic testing by cancer site: breast. Cancer J. 2012, 18: 310-319. 10.1097/PPO.0b013e318260946f.
Mai PL, Malkin D, Garber JE, Schiffman JD, Weitzel JN, Strong LC, Wyss O, Locke L, Means V, Achatz MI, Hainaut P, Frebourg T, Evans DG, Bleiker E, Patenaude A, Schneider K, Wilfond B, Peters JA, Hwang PM, Ford J, Tabori U, Ognjanovic S, Dennis PA, Wentzensen IM, Greene MH, Fraumeni JF, Savage SA: Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Gene. 2012, 205: 479-487. 10.1016/j.cancergen.2012.06.008.
Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA: Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003, 63: 6643-6650.
Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C: Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2001, 38: 43-47. 10.1136/jmg.38.1.43.
Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, Caron O, Bressac-de Paillerets B, Berthet P, Dugast C, Bonaiti-Pellie C, Stoppa-Lyonnet D, Frebourg T: 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol. 2009, 27: e108-109. 10.1200/JCO.2009.22.7967. author reply e110
Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F: E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. Prog Mol Biol Transl Sci. 2013, 116: 337-359.
Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C: International gastric cancer linkage C: hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010, 47: 436-444. 10.1136/jmg.2009.074237.
Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC: Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA. 2006, 295: 1379-1388. 10.1001/jama.295.12.1379.
Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P, Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson CE, Monaghan KG, Oliveira MJ, Seruca R, Gallinger S, Caldas C, et al: Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet. 2004, 41: 508-517. 10.1136/jmg.2004.018275.
Mateus AR, Simoes-Correia J, Figueiredo J, Heindl S, Alves CC, Suriano G, Luber B, Seruca R: E-cadherin mutations and cell motility: a genotype-phenotype correlation. Exp Cell Res. 2009, 315: 1393-1402. 10.1016/j.yexcr.2009.02.020.
Bougeard G, Limacher JM, Martin C, Charbonnier F, Killian A, Delattre O, Longy M, Jonveaux P, Fricker JP, Stoppa-Lyonnet D, Flaman JM, Frebourg T: Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome. J Med Genet. 2001, 38: 253-257. 10.1136/jmg.38.4.253.
Verselis SJ, Rheinwald JG, Fraumeni JF, Li FP: Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. Oncogene. 2000, 19: 4230-4235. 10.1038/sj.onc.1203758.
Masciari S, Dewanwala A, Stoffel EM, Lauwers GY, Zheng H, Achatz MI, Riegert-Johnson D, Foretova L, Silva EM, Digianni L, Verselis SJ, Schneider K, Li FP, Fraumeni J, Garber JE, Syngal S: Gastric cancer in individuals with Li-Fraumeni syndrome. Genet Med. 2011, 13: 651-657. 10.1097/GIM.0b013e31821628b6.
Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frebourg T, Lemerle J, Bonaiti-Pellie C, Feunteun J: P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer. 2000, 82: 1932-1937.
Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, Novokmet A, Finlay J, Malkin D: Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol. 2011, 12: 559-567. 10.1016/S1470-2045(11)70119-X.
Kaurah P, MacMillan A, Boyd N, Senz J, De Luca A, Chun N, Suriano G, Zaor S, Van Manen L, Gilpin C, Nikkel S, Connolly-Wilson M, Weissman S, Rubinstein WS, Sebold C, Greenstein R, Stroop J, Yim D, Panzini B, McKinnon W, Greenblatt M, Wirtzfeld D, Fontaine D, Coit D, Yoon S, Chung D, Lauwers G, Pizzuti A, Vaccaro C, Redal MA, et al: Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA. 2007, 297: 2360-2372. 10.1001/jama.297.21.2360.