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    Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England

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    Authors
    Flaum, Nicola
    Morgan, Robert David
    Burghel, G. J.
    Bulman, M.
    Clamp, Andrew R
    Mitchell, Claire L
    Badea, D.
    Moon, S.
    Hogg, M.
    Hadjiyiannakis, D.
    Clancy, T.
    Schlecht, H.
    Woodward, E. R.
    Crosbie, E. J.
    Edmondson, R. J.
    Wallace, A. J.
    Jayson, Gordon C
    Lalloo, F. I.
    Harkness, E. F.
    Evans, D. G. R.
    Hasan, Jurjees
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    Affiliation
    The Christie NHS Foundation Trust, Manchester, UK.
    Issue Date
    2020
    
    Metadata
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    Abstract
    Poly(ADP-ribose) polymerase (PARP) inhibitors improve survival in BRCA-mutant high-grade serous ovarian carcinoma. As a result, germline and somatic BRCA1/2 testing has become standard practice in women diagnosed with ovarian cancer. We outline changes in testing and detection rates of germline BRCA1/2 pathogenic variants (PVs) in cases of non-mucinous epithelial ovarian cancer diagnosed during three eras, spanning 12 years, within the North West of England, and compare the uptake of cascade testing in families identified by oncology-led mainstreaming versus regional genetics clinics. Eras included: Period 1 (20% risk threshold for testing): between January 2007 and May 2013; Period 2 (10% risk threshold for testing): between June 2013 and October 2017 and; Period 3 (mainstream testing): between November 2017 and November 2019. A total of 1081 women underwent germline BRCA1/2 testing between January 2007 and November 2019 and 222 (20.5%) were found to have a PV. The monthly testing rate increased by 3.3-fold and 2.5-fold between Periods 1-2 and Periods 2-3, respectively. A similar incidence of germline BRCA1/2 PVs were detected in Period 2 (17.2%) and Period 3 (18.5%). Uptake of cascade testing from first-degree relatives was significantly lower in those women undergoing mainstream testing compared with those tested in regional genetics clinics (31.6% versus 47.3%, P = 0.038). Mainstream testing allows timely detection of germline BRCA1/2 status to select patients for PARP inhibitors, but shortfalls in the uptake of cascade testing in first-degree relatives requires optimisation to broaden benefits within families.
    Citation
    Flaum N, Morgan RD, Burghel GJ, Bulman M, Clamp AR, Hasan J, et al. Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England. Eur J Hum Genet. 2020.
    Journal
    European Journal of Human Genetics
    URI
    http://hdl.handle.net/10541/623177
    DOI
    10.1038/s41431-020-0692-y
    PubMed ID
    32651552
    Additional Links
    https://dx.doi.org/10.1038/s41431-020-0692-y
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41431-020-0692-y
    Scopus Count
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    All Christie Publications

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