NDLI: BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients

Content Provider	Springer Nature Link
Author	Keshavarzi, Fatemeh Javadi, Gholam Reza Zeinali, Sirous
Copyright Year	2011
Abstract	Breast cancer is the most common cancer in Iranian women (Mousavi et al in Asian Pac J Cancer Prev 9(2):275–278, 2008). Genetic predisposition accounts for 15% of all breast cancers and germline mutations in breast cancer susceptibility genes, BRCA1 and BRCA2 are responsible for a substantial proportion of high-risk breast and breast/ovarian cancer families (Collaborative Group on Hormonal Factors in Breast Cancer in Lancet 350:1047–1059, 1997; Lee et al in Int Nurs Rev 55:355–359, 2008; Hulka and Stark in Lancet 346:883–887, 1995; Kelsey in Epidemiol Rev 15:256–263, 1993; Tischer et al in J Biol Chem 266:11947–11954, 1991; Newman et al in: Proc Natl Acad Sci USA 85:3044–3048, 1988). Therefore, the aim of this study was to investigate mutations of BRCA1/2 in high risk Iranian families. We screened 85 patients who met our minimal criteria. The entire coding sequences and each intron/exon boundaries of BRCA1/2 genes were screened by direct sequencing. In the present study, we could detect the novel following mutations: p.Glu1735 p.Gly1140Ser, p.Ile26Val, p.Leu1418X, p.Glu23Gln, p.Leu3X, p.Asn1403His, p.Lys581X, p.Pro938Arg, p.Thr77Arg, p.Arg7Cys, p.Ser177Thr, IVS7+83(TT), IVS8−70(-CATT), IVS2+9(-GC), IVS1−20(-GA), IVS1−8(-AG), IVS2+24(AG), IVS5−8 (A–G), IVS2(35–39)TTcctatGAT in BRCA1 and p.Glu1391Gly, 1994_1995 (Ins A), IVS6-70−T>G in BRCA2. In agreement with findings in other populations, we found that family history is a good predictor of being a mutation carrier. Five pathogenic BRCA1 mutations and one pathogenic BRCA2 mutation were detected in 85 index cases.
Starting Page	57
Ending Page	67
Page Count	11
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-09-15
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	BRCA1 gene BRCA2 gene Genetic polymorphisms Breast cancer Cancer Research Biomedicine general Human Genetics Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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