Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04

AUTHORS

Simone M. Rowley, Lyon Mascarenhas, Lisa Devereux, Na Li, Kaushalya C. Amarasinghe, Magnus Zethoven, Jue Er Amanda Lee, Alexandra Lewis, James A. Morgan, Sharne Limb, Mary-Anne Young, Paul A. James, Alison H. Trainer, Ian G. Campbell

ABSTRACT

PURPOSE: The identification of carriers of hereditary breast and ovarian cancer (HBOC) gene variants through family cancer history alone is suboptimal, and most population-based genetic testing studies have been limited to founder mutations in high-risk populations. Here, we determine the clinical utility of identifying actionable variants in a healthy cohort of women. METHODS: Germline DNA from a subset of healthy Australian women participating in the lifepool project was screened using an 11-gene custom sequencing panel. Women with clinically actionable results were invited to attend a familial cancer clinic (FCC) for post-test genetic counseling and confirmatory testing. Outcomes measured included the prevalence of pathogenic variants, and the uptake rate of genetic counseling, risk reduction surgery, and cascade testing. RESULTS: Thirty-eight of 5908 women (0.64%) carried a clinically actionable pathogenic variant. Forty-two percent of pathogenic variant carriers did not have a first-degree relative with breast or ovarian cancer and 89% pursued referral to an FCC. Forty-six percent (6/13) of eligible women pursued risk reduction surgery, and the uptake rate of cascade testing averaged 3.3 family members per index case. CONCLUSION: Within our cohort, HBOC genetic testing was well accepted, and the majority of high-risk gene carriers identified would not meet eligibility criteria for genetic testing based on their existing family history. More... »

PAGES

913-922

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41436-018-0277-0

DOI

http://dx.doi.org/10.1038/s41436-018-0277-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107129342

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30254378


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292 https://www.grid.ac/institutes/grid.451052.7 schema:alternateName National Health Service
293 schema:name Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Victoria, Australia
294 South West Thames Regional Genetics Service, St Georges University Hospital NHS Foundation Trust, London, United Kingdom
295 rdf:type schema:Organization
 




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