Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
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Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Prior studies have suggested the existence of reduced penetrance pathogenic variants (RPPVs) in
BRCA1
and
BRCA2
(
BRCA
) which pose challenges for patient counseling and care. Here, we sought to establish RPPVs as a new category of variants. Candidate
BRCA
RPPVs provided by two large clinical diagnostic laboratories were com...
Alternative Titles
Full title
Reduced penetrance BRCA1 and BRCA2 pathogenic variants in clinical germline genetic testing
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TN_cdi_doaj_primary_oai_doaj_org_article_96e995e3f2de44aea2cb93b12232b567
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_96e995e3f2de44aea2cb93b12232b567
Other Identifiers
ISSN
2397-768X
E-ISSN
2397-768X
DOI
10.1038/s41698-024-00741-4
