Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel

Breast Cancer Research and Treatment

Volumn 155, Issue 1, 2016, Pages 133-138

  Yablonski Peretz, Tamar ^a   Paluch Shimon, Shani ^b   Gutman, Lior Soussan ^c   Kaplan, Yulia ^c   Dvir, Addie ^c   Barnes Kedar, Inbal ^d   Kadouri, Luna ^a   Semenisty, Valeriya ^e   Efrat, Noa ^f   Neiman, Victoria ^d   Glasser, Yafit ^c   Michaelson Cohen, Rachel ^g   Katz, Lior ^b   Kaufman, Bella ^b   Golan, Talia ^b   Reish, Orit ^h,j   Hubert, Ayala ^a   Safra, Tamar ⁱ   Yaron, Yuval ^i,j   Friedman, Eitan ^j,k  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b SHEBA MEDICAL CENTER   (Israel)

^c TEVA PHARMACEUTICALS   (Israel)

^d RABIN MEDICAL CENTER   (Israel)

^e Rambam Health Care Campus ^*  (Israel)

^f KAPLAN MEDICAL CENTER   (Israel)

^g SHAARE ZEDEK MEDICAL CENTER   (Israel)

^h ASSAF HAROFEH MEDICAL CENTER   (Israel)

ⁱ TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^j TEL AVIV UNIVERSITY   (Israel)

^k GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

more..

Author keywords

Cancer susceptibility genes; Germline mutations; High risk families; Multigene genotyping

Indexed keywords

APC PROTEIN; CHECKPOINT KINASE 2; PROTEIN MSH2; PROTEIN MSH6; PROTEIN RET;

ADULT; AGED; APC GENE; ARTICLE; ASHKENAZI JEW; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; CAUCASIAN; CHEK2 GENE; CHRISTIAN; CONTROLLED STUDY; DRUZE; FEMALE; GENE; GENETIC SCREENING; GENOTYPE; GERMLINE MUTATION; HUMAN; INFORMED CONSENT; ISRAEL; MAJOR CLINICAL STUDY; MALE; MSH2 GENE; MSH6 GENE; OVARY CANCER; PRIORITY JOURNAL; RAD51C GENE; RET GENE; TUMOR SUPPRESSOR GENE; FAMILY; GENETIC PREDISPOSITION; GENETICS; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; MASS SCREENING;

FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMANS; ISRAEL; MALE; MASS SCREENING;

EID: 84953350507     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-015-3662-2     Document Type: Article

References (31)

1. Petrucelli N, Daly MB, Feldman GL (2010) Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Genet Med 12:245–259
2. Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, Zlotogora J, Heching N, Peretz T (1997) The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60:505–514
3. Tobias DH, Eng C, McCurdy LD, Kalir T, Mandelli J, Dottino PR, Cohen CJ (2000) Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients. Gynecol Oncol 78:148–151
4. Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, Ozcelik H, Goss P, Allingham-Hawkins D, Hamel N, Di Prospero L, Contiga V, Serruya C, Klein M, Moslehi R, Honeyford J, Liede A, Glendon G, Brunet JS, Narod S (1999) Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 91:1241–1247
5. Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA (1999) The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet 64:963–970
6. Kauff ND, Perez-Segura P, Robson ME, Scheuer L, Siegel B, Schluger A, Rapaport B, Frank TS, Nafa K, Ellis NA, Parmigiani G, Offit K (2002) Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J Med Genet 39:611–614
7. Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, Mason BA, Rebbeck TR, Nathanson KL (2008) The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res 68:7006–7014
8. Shiri-Sverdlov R, Gershoni-Baruch R, Ichezkel-Hirsch G, Gotlieb WH, Bruchim Bar-Sade R, Chetrit A, Rizel S, Modan B, Friedman E (2001) The Tyr978X BRCA1 mutation in non-Ashkenazi Jews: occurrence in high-risk families, general population and unselected ovarian cancer patients. Community Genet 4:50–55
9. Lerer I, Wang T, Peretz T, Sagi M, Kaduri L, Orr-Urtreger A, Stadler J, Gutman H, Abeliovich D (1998) The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. Am J Hum Genet 63:272–274
10. Hilbers FS, Vreeswijk MP, van Asperen CJ, Devilee P (2013) The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation? Clin Genet 84:407–414
11. Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch-Shimon S, Volorio S, Ficarazzi F, Bernard L, Radice P, Friedman E, Peterlongo P (2012) Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. Fam Cancer 11:483–491
12. Kushnir A, Laitman Y, Shimon SP, Berger R, Friedman E (2012) Germline mutations in RAD51C in Jewish high cancer risk families. Breast Cancer Res Treat 136:869–874
13. Figer A, Kaplan A, Frydman M, Lev D, Paswell J, Papa MZ, Goldman B, Friedman E (2002) Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancer. Clin Genet 62:298–302
14. Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS, McGuire V, Ladabaum U, Kobayashi Y, Lincoln SE, Cargill M, Ford JM (2014) Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol 32:2001–2009
15. Lincoln SE, Kobayashi Y, Anderson MJ, Yang S, Desmond AJ, Mills MA, Nilsen GB, Jacobs KB, Monzon FA, Kurian AW, Ford JM, Ellisen LW (2015) 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
16. Lynch HT, Watson P, Tinley S, Snyder C, Durham C, Lynch J, Kirnarsky Y, Serova O, Lenoir G, Lerman C, Narod SA (1999) An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genet Cytogenet 109:91–98
17. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG, College American, American College of Medical Genetics and Genomics (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565–574
18. Tavtigian SV, Oefner PJ, Babikyan D et al (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet 85:427–446
19. Zhang B, Beeghly-Fadiel A, Long J, Zheng W (2011) Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol 12:477–488
20. Shen L, Yin ZH, Wan Y, Zhang Y, Li K, Zhou BS (2012) Association between ATM polymorphisms and cancer risk: a meta-analysis. Mol Biol Rep 39:5719–5725
21. Laitman Y, Simeonov M, Herskovitz L, Kushnir A, Shimon-Paluch S, Kaufman B, Zidan J, Friedman E (2012) Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel. Breast Cancer Res Treat 133:1153–1157
22. Laitman Y, Borsthein RT, Stoppa-Lyonnet D, Dagan E, Castera L, Goislard M, Gershoni-Baruch R, Goldberg H, Kaufman B, Ben-Baruch N, Zidan J, Maray T, Soussan-Gutman L, Friedman E (2011) Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. Breast Cancer Res Treat 127:489–495
23. Rosenthal E, Moyes K, Arnell C, Evans B, Wenstrup RJ (2015) Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry. Breast Cancer Res Treat 149:223–227. Erratum in: Breast Cancer Res Treat (2015) 151:233
24. Petrucelli N, Mange S, Fulbright JL, Dohany L, Zakalik D, Duquette D (2015) To reflex or not: additional BRCA1/2 testing in Ashkenazi Jewish individuals without founder mutations. J Genet Couns 24:285–293
25. Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomäki K, Bützow R, Nevanlinna H (2011) RAD51C is a susceptibility gene for ovarian cancer. Hum Mol Genet 20:3278–3288
26. Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL (2011) Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res 13:R20
27. 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 (2006) Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295:1379–1388
28. Zick A, Cohen S, Hamburger T, Goldberg Y, Zvi N, Sagi M, Peretz T (2015) A BRCA1 frameshift mutation in women of Kurdish Jewish Descent. Open Breast Cancer J. doi:10.2174/1876817220150529E001
29. NCCN guidelines. Genetic/familial high-risk assessment: Breast and ovarian. Version 2.2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed 11 Nov 2015
30. Castéra L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, Brault B, Fouillet R, Goardon N, Letac O, Baert-Desurmont S, Tinat J, Bera O, Dugast C, Berthet P, Polycarpe F, Layet V, Hardouin A, Frébourg T, Vaur D (2014) Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 22:1305–1313
31. Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR (2015) 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