Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.

doi:10.1016/j.jmoldx.2020.01.013

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Article

Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel.

The Journal of molecular diagnostics : JMD - 1 Apr 2020

Kwong Ava, Shin Vivian Y, Chen Jiawei, Cheuk Isabella W Y, Ho Cecilia Y S, Au Chun H, Chan Karen K L, Ngan Hextan Y S, Chan Tsun L, Ford James M, Ma Edmond S K

Abstract excerpt

Differences in the mutation spectrum across ethnicities suggest the importance of identifying genes in addition to common high penetrant genes to estimate the associated breast cancer risk in China. A total of 1338 high-risk breast cancer patients who tested negative for germline BRCA1, BRCA2, TP53, and PTEN mutations between 2007 and 2017 were selected from the Hong Kong Hereditary Breast Cancer Family Registry....

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Alleles
BRCA1 Protein
BRCA2 Protein
Biomarkers, Tumor
Computational Biology
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Association Studies

Genetic Predisposition to Disease

Genetic Testing

Genotype

Germ-Line Mutation

Hereditary Breast and Ovarian Cancer Syndrome

Humans

Middle Aged

Source

Open in PubMed

Identifiers

PMID: 32068069
DOI: 10.1016/j.jmoldx.2020.01.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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