Article

Germline Missense Variants in BRCA1: New Trends and Challenges for Clinical Annotation

2019-02-11

Abstract excerpt

Genetic testing allows for identification of germline DNA variations which are associated with a significant increase in risk of developing breast and ovarian cancer. Detection of a BRCA1 or BRCA2 pathogenic variant triggers several clinical management actions, which may include increased surveillance and prophylactic surgery for healthy carriers or treatment with PARP inhibitor therapy for carriers diagnosed with...

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Literature Corpus work: 1313566d-8382-5244-921d-97b183cac4b2
DOI: 10.20944/preprints201902.0090.v1

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