domingo, 30 de septiembre de 2018

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility. - PubMed - NCBI

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility. - PubMed - NCBI



 2018 Sep 26. doi: 10.1038/s41436-018-0277-0. [Epub ahead of print]

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.

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.

KEYWORDS:

cancer risk reduction; familial cancer; hereditary breast and ovarian cancer; lifepool; population screening

PMID:
 
30254378
 
DOI:
 
10.1038/s41436-018-0277-0

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