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

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

Wang, K; Ye, YN; Bao, LW; Cheng, YN; Cao, YD; Yu, JP

Wang, K (corresponding author), Tianjin Med Univ, Canc Inst & Hosp, Dept Gynecol Oncol,Natl Clin Res Ctr Caner, Key Lab Canc Prevent & Therapy,Tianjins Clin Res, Tianjin, Peoples R China.; Yu, JP (corresponding author), Tianjin Med Univ, Canc Inst & Hosp, Canc Mol Diagnost Core,Natl Clin Res Ctr Caner, Key Lab Canc Prevent & Therapy,Tianjins Clin Res, Tianjin, Peoples R China.

Abstract

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 immedi......

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

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