Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel

Breast Cancer Research and Treatment

Volumn 127, Issue 2, 2011, Pages 489-495

  Laitman, Yael ^a   Borsthein, Roni Tsipora ^b   Stoppa Lyonnet, Dominique ^c,d,e   Dagan, Efrat ^b   Castera, Laurent ^c   Goislard, Maud ^c   Gershoni Baruch, Ruth ^b   Goldberg, Hadassah ^b   Kaufman, Bella ^f,k   Ben Baruch, Noa ^g   Zidan, Jamal ^h   Maray, Taiseer ⁱ   Soussan Gutman, Lior ^j   Friedman, Eitan ^a,k  

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

^b RAMBAM MEDICAL CENTER   (Israel)

^c INSTITUT CURIE   (France)

^d INSTITUT CURIE   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f SHEBA MEDICAL CENTER   (Israel)

^g KAPLAN MEDICAL CENTER   (Israel)

^h Rebecca Sieff Government Hospital   (Israel)

ⁱ Golan for Development of the Arab Villages (GfD)   (Israel)

^j Sapir Industrial Zone   (Israel)

^k TEL AVIV UNIVERSITY   (Israel)

more..

Author keywords

BRCA1 BRCA2; Druze; Germline mutations; High risk families; Moslem

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; ARTICLE; ASHKENAZI; BREAST CANCER; CAUCASIAN; CHRISTIAN; DRUZE; ETHNICITY; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE; HETERODUPLEX ANALYSIS; HIGH RISK POPULATION; HUMAN; INTRON; ISRAEL; JEW; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MOSLEM; NUCLEIC ACID BASE SUBSTITUTION; OVARY CANCER; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; ETHNIC GROUPS; FEMALE; GERM-LINE MUTATION; HUMANS; ISRAEL; MIDDLE AGED; OVARIAN NEOPLASMS;

EID: 79958192450     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-010-1217-0     Document Type: Article

References (38)

1. N Petrucelli MB Daly GL Feldman 2010 Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2 Genet Med 12 5 245 259 20216074 10.1097/GIM.0b013e3181d38f2f 1:CAS:528:DC%2BC3cXlvVenu74%3D
2. S Thorlacius JP Struewing P Hartge GH Olafsdottir H Sigvaldason L Tryggvadottir S Wacholder H Tulinius JE Eyfjörd 1998 Population-based study of risk of breast cancer in carriers of BRCA2 mutation Lancet 352 9137 1337 1339 9802270 10.1016/S0140-6736(98)03300-5 1:STN:280:DyaK1M%2FhslamtA%3D%3D (Pubitemid 28510913)
3. B Górski C Cybulski T Huzarski T Byrski J Gronwald A Jakubowska M Stawicka S Gozdecka-Grodecka M Szwiec K Urbański J Mituś E Marczyk J Dziuba P Wandzel D Surdyka O Haus H Janiszewska T Debniak A Tołoczko-Grabarek K Medrek B Masojć M Mierzejewski E Kowalska SA Narod J Lubiński 2005 Breast cancer predisposing alleles in Poland Breast Cancer Res Treat 92 1 19 24 15980987 10.1007/s10549-005-1409-1 (Pubitemid 40875074)
4. AP Sokolenko NV Mitiushkina KG Buslov EM Bit-Sava AG Iyevleva EV Chekmariova Kuligina ESh YM Ulibina ME Rozanov EN Suspitsin DE Matsko OL Chagunava DY Trofimov P Devilee C Cornelisse AV Togo VF Semiglazov EN Imyanitov 2006 High frequency of BRCA1 5382insC mutation in Russian breast cancer patients Eur J Cancer 42 10 1380 1384 16737811 10.1016/j.ejca.2006.01.050 1:CAS:528:DC%2BD28XlvF2js7c%3D (Pubitemid 43903155)
5. K Heimdal L Maehle J Apold JC Pedersen P Møller 2003 The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer Eur J Cancer 39 15 2205 2213 14522380 10.1016/S0959-8049(03)00548-3 1:CAS:528:DC%2BD3sXns1KlsLY%3D (Pubitemid 37297747)
6. D Abeliovich L Kaduri I Lerer N Weinberg G Amir M Sagi J Zlotogora N Heching T Peretz 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 3 505 514 9042909 1:CAS:528:DyaK2sXhvFGjtLY%3D (Pubitemid 27097598)
7. DH Tobias C Eng LD McCurdy T Kalir J Mandelli PR Dottino CJ Cohen 2000 Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients Gynecol Oncol 78 2 148 151 10926794 10.1006/gyno.2000. 5848 1:CAS:528:DC%2BD3cXltlCjtbw%3D (Pubitemid 30650345)
8. E Warner W Foulkes P Goodwin W Meschino J Blondal C Paterson H Ozcelik P Goss D Allingham-Hawkins N Hamel L Di Prospero V Contiga C Serruya M Klein R Moslehi J Honeyford A Liede G Glendon JS Brunet S Narod 1999 Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer J Natl Cancer Inst 91 14 1241 1247 10413426 10.1093/jnci/91.14.1241 1:CAS:528:DyaK1MXltVOhu7k%3D (Pubitemid 29357191)
9. P Hartge JP Struewing S Wacholder LC Brody MA Tucker 1999 The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews Am J Hum Genet 64 4 963 970 10090881 10.1086/302320 1:STN:280:DyaK1M7pt1ensA%3D%3D (Pubitemid 30463027)
10. ND Kauff P Perez-Segura ME Robson L Scheuer B Siegel A Schluger B Rapaport TS Frank K Nafa NA Ellis G Parmigiani K Offit 2002 Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families J Med Genet 39 8 611 614 12161607 10.1136/jmg.39.8.611 1:CAS:528:DC%2BD38XntFSkur0%3D (Pubitemid 34864569)
11. MD Palma SM Domchek J Stopfer J Erlichman JD Siegfried J Tigges-Cardwell BA Mason TR Rebbeck KL Nathanson 2008 The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families Cancer Res 68 17 7006 7014 18703817 10.1158/0008-5472.CAN-08- 0599
12. R Shiri-Sverdlov R Gershoni-Baruch G Ichezkel-Hirsch WH Gotlieb R Bruchim Bar-Sade A Chetrit S Rizel B Modan E Friedman 2001 The Tyr978X BRCA1 mutation in Non-Ashkenazi Jews: occurrence in high-risk families, general population and unselected ovarian cancer patients Community Genet 4 1 50 55 11493753 10.1159/000051156 (Pubitemid 32722270)
13. I Lerer T Wang T Peretz M Sagi L Kaduri A Orr-Urtreger J Stadler H Gutman D Abeliovich 1998 The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction Am J Hum Genet 63 1 272 274 9634522 10.1086/301924 1:CAS:528:DyaK1cXnvFarsrc%3D (Pubitemid 30428346)
14. J Tarabeia O Baron-Epel M Barchana I Liphshitz A Ifrah Y Fishler MS Green 2007 A comparison of trends in incidence and mortality rates of breast cancer, incidence to mortality ratio and stage at diagnosis between Arab and Jewish women in Israel, 1979-2002 Eur J Cancer Prev 16 1 36 42 17220702 10.1097/01.cej.0000228407.91223.85 (Pubitemid 46105005)
15. A Nissan RM Spira T Hamburger M Badriyyah D Prus T Cohen A Hubert HR Freund T Peretz 2004 Clinical profile of breast cancer in Arab and Jewish women in the Jerusalem area Am J Surg 188 62 67 15219486 10.1016/j.amjsurg.2003.11.039 (Pubitemid 38823056)
16. EM Ibrahim FA al-Mulhim A al-Amri FA al-Muhanna AA Ezzat RK Stuart D Ajarim 1998 Breast cancer in the eastern province of Saudi Arabia Med Oncol 15 241 247 9951687 10.1007/BF02787207 1:STN:280:DyaK1M7js1ylsQ%3D%3D (Pubitemid 29049188)
17. HA El-Harith el MS Abdel-Hadi D Steinmann T Dork 2000 BRCA1 and BRCA2 mutations in breast cancer patients from Saudi Arabia Saudi Med J 23 700 704
18. Kadouri L, Bercovich D, Elimelech A, Lerer I, Sagi M, Glusman G, Shochat C, Korem S, Hamburger T, Nissan A, Abu-Halaf N, Badrriyah M, Abeliovich D, Peretz T (2007) A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer. BMC Cancer 7:14
19. MF Atoum SA Al-Kayed 2004 Mutation analysis of the breast cancer gene BRCA1 among breast cancer Jordanian females Saudi Med J 25 1 60 63 14758382 (Pubitemid 38262512)
20. W Troudi N Uhrhammer C Sibille C Dahan W Mahfoudh C Bouchlaka Souissi T Jalabert L Chouchane YJ Bignon F Ben Ayed A Ben Ammar Elgaaied 2007 Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia J Hum Genet 52 11 915 920 17922257 10.1007/s10038-007-0195-5 1:CAS:528:DC%2BD2sXht1ejsb%2FO (Pubitemid 350112486)
21. R Eachkoti I Hussain D Afroze S Aejazaziz M Jan ZA Shah BC Das MA Siddiqi 2007 BRCA1 and TP53 mutation spectrum of breast carcinoma in an ethnic population of Kashmir, an emerging high-risk area Cancer Lett 248 2 308 320 16996204 10.1016/j.canlet.2006.08.012 1:CAS:528:DC%2BD2sXisVWmurc%3D (Pubitemid 46330564)
22. W Troudi N Uhrhammer KB Romdhane C Sibille MB Amor H Khodjet El Khil T Jalabert W Mahfoudh L Chouchane FB Ayed YJ Bignon AB Elgaaied 2008 Complete mutation screening and haplotype characterization of BRCA1 gene in Tunisian patients with familial breast cancer Cancer Biomark 4 1 11 18 18334730 1:CAS:528:DC%2BD1cXksFSitb0%3D (Pubitemid 351343908)
23. N Uhrhammer A Abdelouahab L Lafarge V Feillel A Ben Dib YJ Bignon 2008 BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases Int J Med Sci 5 4 197 202 18645608 1:CAS:528:DC%2BD1cXht1amu7rM (Pubitemid 352000028)
24. T Moattar T Kausar M Aban S Khan S Pervez 2006 Medullary carcinoma of breast with a novel germline mutation 1123T>G in exon 11 of BRCA1 J Coll Physicians Surg Pak 16 9 606 607 16945238 (Pubitemid 44566693)
25. A Liede IA Malik Z Aziz L Rios Pd Pde E Kwan SA Narod 2002 Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan Am J Hum Genet 71 3 595 606 12181777 10.1086/342506 1:CAS:528:DC%2BD38XmvFOhtbo%3D (Pubitemid 34970130)
26. MU Rashid A Zaidi D Torres F Sultan A Benner B Naqvi AR Shakoori A Seidel-Renkert H Farooq S Narod A Amin U Hamann 2006 Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients Int J Cancer 119 12 2832 2839 16998791 10.1002/ijc.22269 1:CAS:528:DC%2BD28Xht1yqt7jO (Pubitemid 44846235)
27. Nissim D (2003) The Druze in the Middle East: their faith, leadership, identity and status. Sussex Academic Press, Brighton, pp 227. ISBN: 978-1903900369
28. HT Lynch P Watson S Tinley C Snyder C Durham J Lynch Y Kirnarsky O Serova G Lenoir C Lerman SA Narod 1999 An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer Cancer Genet Cytogenet 109 91 98 10087939 10.1016/S0165-4608(98)00165-4 1:CAS:528:DyaK1MXitVWqu78%3D (Pubitemid 29128347)
29. R Shiri-Sverdlov P Oefner L Green RG Baruch T Wagner A Kruglikova S Haitchick RM Hofstra MZ Papa I Mulder S Rizel RB Bar Sade E Dagan Z Abdeen B Goldman E Friedman 2000 Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer Hum Mutat 16 6 491 501 11102978 10.1002/1098-1004(200012)16:6<491::AID-HUMU6>3.0.CO;2-J 1:CAS:528:DC%2BD3MXhs1ektg%3D%3D (Pubitemid 32001298)
30. M Soegaard SK Kjaer M Cox E Wozniak E Høgdall C Høgdall J Blaakaer IJ Jacobs SA Gayther SJ Ramus 2008 BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark Clin Cancer Res 14 12 3761 3767 18559594 10.1158/1078-0432. CCR-07-4806 1:CAS:528:DC%2BD1cXntlWrsL8%3D
31. C Houdayer V Moncoutier J Champ J Weber JL Viovy D Stoppa-Lyonnet 2010 Enhanced mismatch mutation analysis: simultaneous detection of point mutations and large scale rearrangements by capillary electrophoresis, application to BRCA1 and BRCA2 Methods Mol Biol 653 147 180 20721742 10.1007/978-1-60761-759-4- 9 1:CAS:528:DC%2BC3cXht1KmtL3L
32. TS Frank AM Deffenbaugh JE Reid M Hulick BE Ward B Lingenfelter KL Gumpper T Scholl SV Tavtigian DR Pruss GC Critchfield 2002 Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals J Clin Oncol 20 6 1480 1490 11896095 10.1200/JCO.20.6.1480 1:CAS:528:DC%2BD38XivFeisbY%3D (Pubitemid 34260526)
33. S Denic L Al-Gazali 2002 Breast cancer, consanguinity, and lethal tumor genes: simulation of BRCA1/2 prevalence over 40 generations Int J Mol Med 10 6 713 719 12429997 1:CAS:528:DC%2BD38XpsVyrsLs%3D
34. Moncoutier V, Castera L, Tirapo C, Michaux D, Remon MA, Laugé A, Rouleau E, de Pauw A, Buecher B, Gauthier-Villars M, Viovy JL, Stoppa-Lyonnet D, Houdayer C (2010) EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. Hum Mutat (submitted)
35. T Distelman-Menachem T Shapira Y Laitman B Kaufman F Barak S Tavtigian E Friedman 2009 Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women Fam Cancer 8 2 127 133 18798010 10.1007/s10689-008-9216-6 1:CAS:528:DC%2BD1MXlvV2jtrY%3D
36. B Kaufman Y Laitman MA Carvalho L Edelman TD Menachem J Zidan AN Monteiro E Friedman 2006 The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews Genet Test 10 3 200 207 17020472 10.1089/gte.2006.10.200 1:CAS:528:DC%2BD28XhtVCntLzP (Pubitemid 44849889)
37. SV Tavtigian AM Deffenbaugh L Yin T Judkins T Scholl PB Samollow D de Silva A Zharkikh A Thomas 2006 Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral J Med Genet 43 295 305 16014699 10.1136/jmg.2005.033878 1:CAS:528:DC%2BD28XktlymtL4%3D
38. T Katagiri F Kasumi M Yoshimoto T Nomizu K Asaishi R Abe A Tsuchiya M Sugano S Takai M Yoneda T Fukutomi K Nanba M Makita H Okazaki K Hirata M Okazaki Y Furutsuma Y Morishita Y Iino T Karino H Ayabe S Hara T Kajiwara S Houga T Shimizu M Toda Y Ymazaki T Uchida K Kunimoto H Sonoo J-I Kurebayashi K Shimtsuma Y Nakamura Y Miki 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families J Hum Genet 43 1 42 48 9609997 10.1007/s100380050035 1:CAS:528:DyaK1cXitlWqsbc%3D (Pubitemid 28252549)