Absence of the BRCA1 del (exons 9-12) mutation in breast/ovarian cancer families outside of Mexican Hispanics

Breast Cancer Research and Treatment

Volumn 117, Issue 3, 2009, Pages 679-681

  Torres, Diana ^b   Rashid, Muhammad U ^a,c   Seidel Renkert, Antje ^a   Weitzel, Jeffrey N ^d   Briceno, Ignacio ^b   Hamann, Ute ^a  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^c SHAUKAT KHANUM MEMORIAL CANCER HOSPITAL AND RESEARCH CENTRE   (Pakistan)

^d CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

BRCA1; Ethnic groups; Exon 9 12 deletion; Genomic rearrangements

Indexed keywords

BRCA1 PROTEIN;

ASIAN; BREAST CANCER; CANCER FAMILY; CANCER RISK; CAUCASIAN; COLOMBIA; DELETION MUTANT; EXON; FAMILIAL CANCER; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; GENOME; HIGH RISK POPULATION; HISPANIC; HUMAN; LETTER; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; OVARY CANCER; PAKISTAN; PRIORITY JOURNAL; RISK ASSESSMENT;

EID: 70349573082     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-009-0383-4     Document Type: Letter

References (17)

1. CI Szabo MC King 1997 Population genetics of BRCA1 and BRCA2 Am J Hum Genet 60 5 1013 1020 9150148 1:STN:280:DyaK2s3psVeqsA%3D%3D
2. JN Weitzel V Lagos KR Blazer R Nelson C Ricker J Herzog C McGuire S Neuhausen 2005 Prevalence of BRCA mutations and founder effect in high-risk Hispanic families Cancer Epidemiol Biomarkers Prev 14 7 1666 1671 10.1158/1055-9965.EPI-05-0072 16030099 10.1158/1055-9965.EPI-05-0072 1:CAS:528:DC%2BD2MXmt1Grsb4%3D (Pubitemid 40995077)
3. L Jara S Ampuero E Santibanez L Seccia J Rodríguez M Bustamante V Martínez A Catenaccio G Lay-Son R Blanco JM Reyes 2006 BRCA1 and BRCA2 mutations in a South American population Cancer Genet Cytogenet 166 1 36 45 10.1016/j.cancergencyto.2005.08.019 16616110 10.1016/j.cancergencyto.2005.08.019 1:CAS:528:DC%2BD28Xjs1Wlt7Y%3D
4. D Torres MU Rashid F Gil A Umana G Ramelli JF Robledo M Tawil L Torregrosa I Briceno U Hamann 2007 High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia Breast Cancer Res Treat 103 2 225 232 10.1007/s10549-006-9370-1 17080309 10.1007/s10549-006-9370-1 1:CAS:528:DC%2BD2sXltlaqtr0%3D (Pubitemid 46789144)
5. 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 10.1002/ijc.22269 16998791 10.1002/ijc.22269 1:CAS:528: DC%2BD28Xht1yqt7jO (Pubitemid 44846235)
6. A Liede SA Narod 2002 Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2 Hum Mutat 20 6 413 424 10.1002/humu.10154 12442265 10.1002/humu.10154 1:CAS:528:DC%2BD38Xps1yjs7w%3D (Pubitemid 35453558)
7. C Hughes A Gomez-Caminero J Benkendorf J Kerner C Isaacs J Barter C Lerman 1997 Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk Patient Educ Couns 32 1-2 51 62 10.1016/S0738-3991(97) 00064-5 9355572 10.1016/S0738-3991(97)00064-5 1:STN:280:DyaK1c%2FhslajtA%3D%3D (Pubitemid 27395979)
8. C Hughes C Lerman E Lustbader 1996 Ethnic differences in risk perception among women at increased risk for breast cancer Breast Cancer Res Treat 40 1 25 35 10.1007/BF01806000 8888150 10.1007/BF01806000 1:STN:280: DyaK2s%2Fkt12msA%3D%3D (Pubitemid 26283488)
9. RT Croyle C Lerman 1999 Risk communication in genetic testing for cancer susceptibility J Natl Cancer Inst Monogr 25 59 66 10854459
10. S Gad V Caux-Moncoutier S Pages-Berhouet M Gauthier-Villars I Coupier P Pujol M Frénay B Gilbert C Maugard YJ Bignon A Chevrier A Rossi JP Fricker TD Nguyen L Demange A Aurias A Bensimon D Stoppa-Lyonnet 2002 Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families Oncogene 21 44 6841 6847 10.1038/sj.onc.1205685 12360411 10.1038/sj.onc.1205685 1:CAS:528:DC%2BD38XntFent7c%3D (Pubitemid 35221927)
11. F Casilli I Tournier OM Sinilnikova F Coulet F Soubrier C Houdayer A Hardouin P Berthet H Sobol V Bourdon D Muller JP Fricker C Capoulade-Metay A Chompret C Nogues S Mazoyer P Chappuis P Maillet C Philippe A Lortholary P Gesta S Bézieau C Toulas L Gladieff CM Maugard DM Provencher C Dugast C Delvincourt TD Nguyen L Faivre V Bonadona T Frébourg R Lidereau D Stoppa-Lyonnet M Tosi 2006 The contribution of germline rearrangements to the spectrum of BRCA2 mutations J Med Genet 43 9 e49 10.1136/jmg.2005.040212 16950820 10.1136/jmg.2005.040212 1:STN:280:DC%2BD28ris1Wlug%3D%3D
12. 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 10.1158/0008-5472.CAN-08-0599 18703817 10.1158/0008-5472.CAN-08-0599
13. R Ferla V Calo S Cascio G Badalamenti I Carreca E Surmacz G Colucci V Bazan A Russo 2007 Founder mutations in BRCA1 and BRCA2 genes Ann Oncol 18 Suppl 6 vi93 vi98 10.1093/annonc/mdm234 17591843 10.1093/annonc/mdm234
14. JN Weitzel VI Lagos JS Herzog T Judkins B Hendrickson JS Ho CN Ricker KJ Lowstuter KR Blazer G Tomlinson T Scholl 2007 Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families Cancer Epidemiol Biomarkers Prev 16 8 1615 1620 10.1158/1055-9965.EPI-07-0198 17646271 10.1158/1055-9965.EPI-07-0198 1:CAS:528:DC%2BD2sXos1equ7k%3D (Pubitemid 47294827)
15. U Hamann H Brauch AM Garvin G Bastert RJ Scott 1997 German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene Genes Chromosomes Cancer 18 2 126 132 10.1002/(SICI)1098-2264(199702) 18:2<126:AID-GCC7>3.0.CO;2-4 9115962 10.1002/(SICI)1098-2264(199702)18: 2<126::AID-GCC7>3.0.CO;2-4 1:CAS:528:DyaK2sXhsVOisLs%3D
16. U Hamann M Haner U Stosiek G Bastert RJ Scott 1997 Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families J Med Genet 34 11 884 888 10.1136/jmg.34.11.884 9391879 10.1136/jmg.34.11.884 1:STN:280:DyaK1c%2FltleltQ%3D%3D
17. U Hamann X Liu S Lange HU Ulmer A Benner RJ Scott 2002 Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany J Med Genet 39 3 E12 10.1136/jmg.39.3.e12 11897832 10.1136/jmg.39.3.e12 1:STN:280:DC%2BD387otFSiug%3D%3D