Familial Cancer

, Volume 9, Issue 3, pp 263–265 | Cite as

RASSF1A polymorphism in familial breast cancer

  • J. Bergqvist
  • A. Latif
  • S. A. Roberts
  • K. D. Hadfield
  • F. Lalloo
  • A. Howell
  • D. G. Evans
  • W. G. NewmanEmail author


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.


BRCA1 BRCA2 Breast cancer Familial RASSF1A 



Genetic Medicine is supported by the NIHR Manchester Biomedical Research Centre.


This study was funded by Genesis UK who had no role in study design; in the collection, analysis, and interpretation of data; in the writing of the manuscript; nor in the decision to submit the manuscript for publication.

Competing interests

The authors have no competing interests to declare.


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Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • J. Bergqvist
    • 1
  • A. Latif
    • 1
  • S. A. Roberts
    • 2
  • K. D. Hadfield
    • 1
  • F. Lalloo
    • 1
  • A. Howell
    • 3
    • 4
  • D. G. Evans
    • 1
    • 3
  • W. G. Newman
    • 1
    Email author
  1. 1.Genetic Medicine, St Mary’s Hospital, Manchester Academic Health Sciences Centre (MAHSC)University of ManchesterManchesterUK
  2. 2.Health Research Methodology GroupUniversity of ManchesterManchesterUK
  3. 3.The Nightingale Centre & Genesis Prevention CentreWythenshawe HospitalManchesterUK
  4. 4.Department of Medical Oncology, The Christie NHS Foundation Trust ResearchUniversity of ManchesterManchesterUK

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