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    Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores.

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    Authors
    Evans, D Gareth R
    Woodward, E
    Howell, Sacha J
    Verhoef, S
    Howell, Anthony
    Lalloo, F
    Affiliation
    Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Institute of Human Development, University of Manchester, Manchester, M13 9WL
    Issue Date
    2016-10-31
    
    Metadata
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    Abstract
    To assess the need for adjustment in the likelihood of germline BRCA1/2 mutations in women with HER2+ breast cancers. We analysed primary mutation screens on women with breast cancer with unequivocal HER2 overexpression and assessed the likelihood of BRCA1/BRCA2 mutations by age, oestrogen receptor status and Manchester score. Of 1111 primary BRCA screens with confirmed HER2 status only 4/161 (2.5%) of women with HER2 amplification had a BRCA1 mutation identified and 5/161 (3.1%) a BRCA2 mutation. The pathology adjusted Manchester score between 10 and 19% and 20%+ thresholds resulted in a detection rate of only 6.5 and 15% respectively. BOADICEA examples appeared to make even less downward adjustment. There is a very low detection rate of BRCA1 and BRCA2 mutations in women with HER2 amplified breast cancers. The Manchester score and BOADICEA do not make sufficient downward adjustment for HER2 amplification. For unaffected women, assessment of breast cancer risk and BRCA1/2 probability should take into account the pathology of the most relevant close relative. Unaffected women undergoing mutation testing for BRCA1/2 should be advised that there is limited reassurance from a negative test result if their close relative had a HER2+ breast cancer.
    Citation
    Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores. 2016, Fam Cancer
    Journal
    Familial Cancer
    URI
    http://hdl.handle.net/10541/620036
    DOI
    10.1007/s10689-016-9942-0
    PubMed ID
    27796713
    Type
    Article
    Language
    en
    ISSN
    1573-7292
    ae974a485f413a2113503eed53cd6c53
    10.1007/s10689-016-9942-0
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