BRCA2 rs80358189: what the research says
An established pathogenic variant causing increased susceptibility to breast, ovarian, and prostate cancers.
Founder mutation; significant risk in specific cohorts.
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A pathogenic variant in the BRCA2 gene that has been newly classified as significantly impacting predisposition to hereditary breast and ovarian cancer.
This variant is a known pathogenic mutation contributing to hereditary breast and ovarian cancer syndrome.
Also known as Lys3326Ter (K3326X), this truncating variant in the C-terminus of BRCA2 confers moderate increased susceptibility to breast, ovarian, and lung cancers.
Protein-truncating variant (K3326X) in BRCA2 linked to increased risk for breast and lung cancers.
Nonsense variant p.Lys3326Ter near the C-terminus of BRCA2 associated with a modest but significantly increased predisposition to breast, lung, and upper aerodigestive cancers.
Pathogenic stop-gain variant associated with markedly increased risk of breast, ovarian, and prostate cancers.