Evidence map›Paper›PMID 42010629›Full record

ArticleBMC research notes2026

A comparative study of molecular characteristics of pathogenic and uncertain significance variants of BRCA1/2 in Chinese breast cancer patients.

Jiayu Guan, Jiamei Hu, Sihang Lin, Chen Chen, Yuwei Luo, Wenbin Zhou

Abstract readComparative Study
In one paragraph

Article in BMC research notes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Jiayu Guan *Department of Breast Surgery, Shenzhen People's Hospital (The First Affiliated Hospital, Southern University of Science and Technology; The Second Clinical Medical College, Jinan University), Shenzhen, 518020, China.
Jiamei Hu *Department of General Surgery, The Eighth People's Hospital of Longgang, Shenzhen, 518100, China.
Sihang LinDepartment of Breast Surgery, Key Laboratory of Breast Cancer Diagnosis and Treatment Research of Guangxi Department of Education, Guangxi Medical University Cancer Hospital, Nanning, 530000, China.
Chen ChenDepartment of Breast Surgery, Shenzhen People's Hospital (The First Affiliated Hospital, Southern University of Science and Technology; The Second Clinical Medical College, Jinan University), Shenzhen, 518020, China.
Yuwei LuoDepartment of Breast Surgery, Shenzhen People's Hospital (The First Affiliated Hospital, Southern University of Science and Technology; The Second Clinical Medical College, Jinan University), Shenzhen, 518020, China.
Wenbin ZhouDepartment of Breast Surgery, Shenzhen People's Hospital (The First Affiliated Hospital, Southern University of Science and Technology; The Second Clinical Medical College, Jinan University), Shenzhen, 518020, China. zhouwb1016@163.com.

Funding

Sanming Project of Medicine in Shenzhen No.SZSM202411026Shenzhen Key Medical Discipline Construction Fund No.SZXK015
6 · The paper itself

Abstract

objectiveAlthough many studies focus on breast cancer patients carrying pathogenic or likely pathogenic variants (P/LPVs) of the breast cancer susceptibility gene (BRCA), the impact of variants of uncertain significance (VUS) on breast cancer remains unclear. This study aims to analyze the tumor biological characteristics of different mutation types of the BRCA in the Shenzhen population.

results(1) Among the patients included based on the genetic high-risk breast cancer assessment guidelines, the detection rate of BRCA mutations reached 21.2% (87/411) ; (2) Pathogenic variant c.5239 C > T in the BRCA1 was detected in 3 cases, while pathogenic variants c.3109 C > T and c.8951 C > G in the BRCA2 were each detected in 3 cases; (3) In breast cancer patients carrying BRCA and BRCA1 mutations, the negative rates of estrogen receptor and progesterone receptor in the pathogenic or likely pathogenic variants group are higher than those in the variants of uncertain significance group; (4) The types of BRCA mutations (P/LPVs versus VUS) were correlated with the expression levels of estrogen receptor and progesterone receptor.

Indexed as

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsMutationAdultAgedChinaEast Asian PeopleFemaleGenetic Predisposition to DiseaseHumansMiddle AgedReceptors, EstrogenReceptors, ProgesteroneBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanReceptors, EstrogenReceptors, ProgesteroneBRCABreast cancerLikely pathogenic variantsPathogenic variantsVariants of uncertain significance

Identifiers

PMID42010629
PMCPMC13227675

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