Ontology type: schema:ScholarlyArticle
2019-04
AUTHORSSimone 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
ABSTRACTPURPOSE: 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... »
PAGES913-922
http://scigraph.springernature.com/pub.10.1038/s41436-018-0277-0
DOIhttp://dx.doi.org/10.1038/s41436-018-0277-0
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/30254378
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"url": "https://www.nature.com/articles/s41436-018-0277-0"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0277-0'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0277-0'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0277-0'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41436-018-0277-0'
This table displays all metadata directly associated to this object as RDF triples.
295 TRIPLES
21 PREDICATES
64 URIs
21 LITERALS
9 BLANK NODES