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Familial Cancer
Published in: Familial Cancer 3/2010

01-09-2010

RASSF1A polymorphism in familial breast cancer

Authors: J. Bergqvist, A. Latif, S. A. Roberts, K. D. Hadfield, F. Lalloo, A. Howell, D. G. Evans, W. G. Newman

Published in: Familial Cancer | Issue 3/2010

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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.
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Metadata
Title
RASSF1A polymorphism in familial breast cancer
Authors
J. Bergqvist
A. Latif
S. A. Roberts
K. D. Hadfield
F. Lalloo
A. Howell
D. G. Evans
W. G. Newman
Publication date
01-09-2010
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-010-9335-8

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