Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Hereditary Cancer in Clinical Practice
Wenjing JianXianming Wang

Abstract

Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. There are few studies examining the role of these causative variants. Our study aimed to examine the clinical and genetic characterization of hereditary breast cancer in a Chinese population. We tested a panel of 27 genes implicated in breast cancer risk in 240 participants using Next-Generation Sequencing. The prevalence of genetic causative variants was determined and the association between causative variants and clinico-pathological characteristics was analyzed. Causative variant rate was 19.2% in the breast cancer (case) group and 12.5% in the high-risk group. In the case group 2.5% of patients carried BRCA1 causative variant, 7.5% BRCA2 variants, 1.7% patients had MUTYH, CHEK or PALB2 variants, and 0.8% patients carried ATM, BARD1, NBN, RAD51C or TP53 variants. In the high-risk group 5.8% women carried MUTYH causative variants, 2.5% had causative variants in ATM,...Continue Reading

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Citations

Oct 13, 2018·Cancer Research and Treatment : Official Journal of Korean Cancer Association·Muhammad Usman RashidUte Hamann
May 13, 2018·International Journal of Cancer. Journal International Du Cancer·Jun-Yan LiJun Jiang
Jun 3, 2021·International Journal of Molecular Sciences·Roberta ZuntiniDaniela Turchetti

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Methods Mentioned

BETA
electrophoresis
PCR
chip

Software Mentioned

Blackbird
SOAPnuke1
Haplotype Caller
BWA
ClinVar
Realigner
GATK
SPSS

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