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    BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

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    Authors
    Lalloo, Fiona
    Varley, Jennifer
    Moran, Anthony
    Ellis, David
    O'Dair, Lindsay
    Pharoah, Paul
    Antoniou, Antonis
    Hartley, Roger
    Shenton, Andrew
    Seal, Sheila
    Bulman, Barbara
    Howell, Anthony
    Evans, D Gareth R
    Show allShow less
    Affiliation
    Department of Clinical, Genetics and Academic Unit of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom. fiona.lalloo@cmmc.nhs.uk
    Issue Date
    2006-05
    
    Metadata
    Show full item record
    Abstract
    Pathological mutations in BRCA1, BRCA2 and TP53 are associated with an increased risk of breast cancer. This study evaluated mutation frequency of these genes in early-onset breast cancer patients, and correlated this with family history and determined relative risks to family members. Patients with breast adenocarcinoma diagnosed 30 years were ascertained between 1980 and 1997. Family history was established and mutation screening of BRCA1, BRCA2 and TP53 genes was performed. Estimates of penetrance and relative risk were undertaken. DNA was obtained from 100/139 women. 17/36 familial cases had a BRCA1, BRCA2 or TP53 mutation. Of 64 non-familial cases, one BRCA2, two BRCA1 and two TP53 mutations were detected. Penetrance estimates (by age 70) for breast cancer were 84% for BRCA1 mutations and 91% for BRCA2 mutations and for ovarian cancer, 60% and 26%, respectively. Relative risks associated with mutations were consistent with previous studies. BRCA1 and BRCA2 mutations in patients with breast cancer 30 years are predicted strongly by family history. The majority of families with ovarian cancer were due to mutations in BRCA1/2 whereas these mutations only accounted for 30-50% of the excess breast cancers.
    Citation
    BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 2006, 42 (8):1143-50 Eur. J. Cancer
    Journal
    European Journal of Cancer
    URI
    http://hdl.handle.net/10541/72860
    DOI
    10.1016/j.ejca.2005.11.032
    PubMed ID
    16644204
    Type
    Article
    Language
    en
    ISSN
    0959-8049
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.ejca.2005.11.032
    Scopus Count
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    All Christie Publications
    All Paterson Institute for Cancer Research

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