Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England
Authors
Flaum, NicolaMorgan, 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
Affiliation
The Christie NHS Foundation Trust, Manchester, UK.Issue Date
2020
Metadata
Show full item recordAbstract
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 GeneticsDOI
10.1038/s41431-020-0692-yPubMed ID
32651552Additional Links
https://dx.doi.org/10.1038/s41431-020-0692-yType
ArticleLanguage
enae974a485f413a2113503eed53cd6c53
10.1038/s41431-020-0692-y
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