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A hereditary ovarian cancer family with rare pathogenic splicing mutation: Implications for variant interpretation.

Cancer genetics - 1 Aug 2021

Wang Ke, Ye Yingnan, Bao Lewen, Cheng Yanan, Cao Yandong, Yu Jinpu

Abstract excerpt

The BRCA1/2 gene is important for assessing the risk of familial/hereditary ovarian cancer (OC). This case is a patient with OC, and two of her immediate family members are cancer patients. We sequenced the coding and splicing regions of 42 OC susceptibility genes, and found a rare pathogenic splicing mutation BRCA1:c.132C > T (p.cys44 =) in 2 patients. Although the mutation is synonymous, software prediction and...

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PMID: 34120093
DOI: 10.1016/j.cancergen.2021.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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