Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants

Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of clinically significant findings. With an Estonian...

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Vydáno v:	European journal of human genetics : EJHG Ročník 29; číslo 3; s. 471 - 481
Hlavní autoři:	Leitsalu, Liis, Palover, Marili, Sikka, Timo Tõnis, Reigo, Anu, Kals, Mart, Pärn, Kalle, Nikopensius, Tiit, Esko, Tõnu, Metspalu, Andres, Padrik, Peeter, Tõnisson, Neeme
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England Nature Publishing Group 01.03.2021
Témata:	Attitude Biobanks BRCA1 protein BRCA1 Protein - genetics BRCA2 Protein - genetics Breast cancer Female Genetic Carrier Screening - ethics Genetic Carrier Screening - methods Genetic counseling Genetic Counseling - psychology Genetic Counseling - standards Genetic screening Genotype & phenotype Genotypes Hereditary Breast and Ovarian Cancer Syndrome - diagnosis Hereditary Breast and Ovarian Cancer Syndrome - genetics Hereditary Breast and Ovarian Cancer Syndrome - psychology Hereditary Breast and Ovarian Cancer Syndrome - surgery Humans Ovarian cancer Patient Compliance Population genetics Prophylactic Mastectomy - psychology Prophylactic Mastectomy - statistics & numerical data Risk assessment Surgery Truth Disclosure
ISSN:	1018-4813, 1476-5438, 1476-5438
On-line přístup:	Získat plný text
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Shrnutí:	Genotype-first approach allows to systematically identify carriers of pathogenic variants in BRCA1/2 genes conferring a high risk of familial breast and ovarian cancer. Participants of the Estonian biobank have expressed support for the disclosure of clinically significant findings. With an Estonian biobank cohort, we applied a genotype-first approach, contacted carriers, and offered return of results with genetic counseling. We evaluated participants' responses to and the clinical utility of the reporting of actionable genetic findings. Twenty-two of 40 contacted carriers of 17 pathogenic BRCA1/2 variants responded and chose to receive results. Eight of these 22 participants qualified for high-risk assessment based on National Comprehensive Cancer Network criteria. Twenty of 21 counseled participants appreciated being contacted. Relatives of 10 participants underwent cascade screening. Five of 16 eligible female BRCA1/2 variant carriers chose to undergo risk-reducing surgery, and 10 adhered to surveillance recommendations over the 30-month follow-up period. We recommend the return of results to population-based biobank participants; this approach could be viewed as a model for population-wide genetic testing. The genotype-first approach permits the identification of individuals at high risk who would not be identified by application of an approach based on personal and family histories only.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	1018-4813 1476-5438 1476-5438
DOI:	10.1038/s41431-020-00760-2