ArticleFamilial cancer2012
BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.Breast cancer research and treatment · 2022Article
- A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.Familial cancer · 2022Article
- Evaluation of the indication of BRCA1/2 genetic tests in Iranian women and acceptance rate of risk-reducing surgeries in BRCA mutation carriers.Molecular genetics & genomic medicine · 2022Article
- Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.BMC cancer · 2020Article
- Mutations analysis ofMedical journal of the Islamic Republic of Iran · 2019Article
- Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.Journal of medical genetics · 2016Review
- BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2015Review
- TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.Hereditary cancer in clinical practice · 2014Article
- An unusual BRCA mutation distribution in a high risk cancer genetics clinic.Familial cancer · 2013Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Article
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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