title: RASSF1A polymorphism in familial breast cancer.
abstract: 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.
authors.affiliation: Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, M13 9WL, UK.
authors.forename: J
authors.initials: J
authors.lastname: Bergqvist
authors.forename: A
authors.initials: A
authors.lastname: Latif
authors.forename: S A
authors.initials: SA
authors.lastname: Roberts
authors.forename: K D
authors.initials: KD
authors.lastname: Hadfield
authors.forename: F
authors.initials: F
authors.lastname: Lalloo
authors.forename: A
authors.initials: A
authors.lastname: Howell
authors.forename: D G
authors.initials: DG
authors.lastname: Evans
authors.forename: W G
authors.initials: WG
authors.lastname: Newman
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D049669:History, 16th Century; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C411762:RASSF1 protein, human; D025521:Tumor Suppressor Proteins