Authors
Bergqvist, JLatif, A
Roberts, S A
Hadfield, K D
Lalloo, Fiona
Howell, Anthony
Evans, D Gareth R
Newman, W G
Affiliation
Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, M13 9WL, UK.Issue Date
2010-09
Metadata
Show full item recordAbstract
Inactivation or loss of the tumour suppressor Ras associated domain family 1 isoform A (RASSF1A) allele has been described in breast cancer. Recently, a missense polymorphism predicting p.A331S in RASSF1A was associated with an increased risk of breast cancer and early-onset breast cancer in BRCA1 and BRCA2 mutation carriers. We genotyped p.A331S RASSF1A in 854 independent, familial, white breast cancer patients (645 BRCA mutation negative, 119 BRCA1 and 90 BRCA2 positive) and compared the genotype in 331 healthy women. The RASSF1A p.A331S variant was not more common in the familial breast cancer cases than in the controls (P = 0.27). Subset analysis demonstrated no association in the BRCA1 (P = 0.26), BRCA2 (P = 0.16) or BRCA negative (P = 0.30) samples. Hence, the RASSF1A p.A331S polymorphism is not confirmed as a significant germline contributor to familial breast cancer susceptibility.Citation
RASSF1A polymorphism in familial breast cancer. 2010, 9 (3):263-5 Fam CancerJournal
Familial CancerDOI
10.1007/s10689-010-9335-8PubMed ID
20361264Type
ArticleLanguage
enISSN
1573-7292ae974a485f413a2113503eed53cd6c53
10.1007/s10689-010-9335-8
Scopus Count
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