ArticleMedical oncology (Northwood, London, England)2012
BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.
Article in Medical oncology (Northwood, London, England), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Pooled it
- Association between the BRCA2 rs144848 polymorphism and cancer susceptibility: a meta-analysis.Oncotarget · 2017Pooled it
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- The Molecular Detection of Germline Mutations in theCurrent issues in molecular biology · 2024Article
- The associations of healthy lifestyle index with breast cancer incidence and mortality in a population-based study.Breast cancer (Tokyo, Japan) · 2022Article
- Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.Molecular biology reports · 2022Article
- Article
- A novel somatic BRCA2 point mutation in a metastatic pancreatic cancer patient: a case report.BMC medical genomics · 2021Article
- Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.BMC cancer · 2018Article
- Genotypic distribution of single nucleotide polymorphisms in oral cancer: global scene.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Review
- The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.Medical journal of the Islamic Republic of Iran · 2016Review
- Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.BMC cancer · 2015Article
- Prevalence of BRCA1 and BRCA2 Germline Mutations in Breast Cancer Women of Multiple Ethnic Region in Northwest China.Journal of breast cancer · 2013Article
- Screening of Germline BRCA1 and BRCA2 Variants in Nigerian Breast Cancer Patients.Technology in cancer research & treatmentArticle
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We examined BRCA1/2 mutations and single nucleotide polymorphisms (SNPs) for identification of BRCA1 haplotypes, in early-onset breast cancer patients and their relatives, sporadic breast cancer patients, and unrelated normal healthy females, of Indian ethnicity. Peripheral blood DNA was amplified by polymerase chain reaction, at BRCA1/2 coding exons and subject to nucleotide sequencing using ABI 3100 Genetic Analyzer. We observed BRCA1/BRCA2 mutations in 52 % early-onset breast cancer patients and in 57 % relatives. Deleterious mutations detected in early-onset patients and relatives were 187delAG, 632insT, 1052delT, Q759X, Q780X, R1203X, 5154delC, IVS14 + 1G > A, IVS17 + 1G > T, and 632insT in BRCA1 gene; and 4075delGT, 5076delAA, 6079delAGTT, and W3127X in BRCA2 gene. A high degree of penetrance of BRCA1/2 gene mutations was observed in the relatives. BRCA1/2 SNPs were identified in the Indian population, and association of BRCA1 haplotypes with breast cancer was investigated. A significantly increased frequency of the SNPs 203G/A, 3624A/G and 7470A/G SNPs in BRCA2 gene was observed in normal controls indicative of a protective effect of the SNPs. BRCA1 haplotype 2 was most frequently observed in our population. Our study indicates a high incidence of BRCA1/BRCA2 gene mutations in the Indian patients. The BRCA1/2 mutations and SNPs are detailed on our website http://relibrca.rellife.com .
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