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BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients

, : BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients. Familial Cancer 11(1): 57-67

Breast cancer is the most common cancer in Iranian women (Mousavi et al in Asian Pac J Cancer Prev 9:275 278, 28). 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 35:147 159, 1997; Lee et al in Int Nurs Rev 55:355 359, 28; 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 85:344 348, 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.Gly114Ser, p.Ile26Val, p.Leu1418X, p.Glu23Gln, p.Leu3X, p.Asn143His, p.Lys581X, p.Pro938Arg, p.Thr77Arg, p.Arg7Cys, p.Ser177Thr, IVS7+83(), IVS8?7(-CA), IVS2+9(-GC), IVS1?2(-GA), IVS1?8(-AG), IVS2+24(AG), IVS5?8 (A G), IVS2(35 39)cctatGAT in BRCA1 and p.Glu1391Gly, 1994_1995 (Ins A), IVS6-7?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.


PMID: 21918854

DOI: 10.1007/s10689-011-9477-3

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