Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.

Human genomics - 1 Dec 2025

Xiong Chanyu, Wang Xiao, Ji Juanjuan, Yu Tianshu, Zhang Yun, Jiang Zhilin, Liu Jinbo, Zhang Junyu, Lin Yin, Gong Bo, Zhou Yu

Abstract excerpt

BACKGROUND: Hereditary cancers, caused by germline pathogenic variants in cancer susceptibility genes, account for 5%∼10% of malignancies globally. However, their prevalence and genetic spectrum in the Chinese population remain poorly characterized. This study aimed to investigate germline pathogenic variants in 21 cancer susceptibility genes within a Chinese cohort undergoing routine health examinations....

Topics

Adult
Female
Humans
Male
Middle Aged
Ataxia Telangiectasia Mutated Proteins
BRCA1 Protein
BRCA2 Protein
Checkpoint Kinase 2
China
Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA Glycosylases

Fanconi Anemia Complementation Group N Protein

Genetic Predisposition to Disease

Germ-Line Mutation

Neoplasms

East Asian People

Source

Open in PubMed Open full text

Identifiers

PMID: 41327405
DOI: 10.1186/s40246-025-00873-z
PMCID: PMC12777394

Genes

ATM
BRCA2
MUTYH
BRCA1
CHEK2
PALB2

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.PMID 41327405Read ↗

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort.Semantic proximity Read ↗

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

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.Semantic proximity Read ↗

Prevalence of Pathogenic Germline Variants in Cancer Susceptibility Genes using the All of Us DatasetSemantic proximity Read ↗

Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.Semantic proximity Read ↗

Cancer Genetic Predisposition and Clinical Applications-A Narrative Review on Germline Genetic Testing, High-Risk Cancer Surveillance and Management.Semantic proximity Read ↗

Evaluation of pathogenetic mutations in breast cancer predisposition genes in population-based studies conducted among Chinese women.Semantic proximity Read ↗

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.Semantic proximity Read ↗

Frequency of mutations in 21 hereditary breast and ovarian cancer susceptibility genes among high-risk Chinese individualsSemantic proximity Read ↗

Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer.Semantic proximity Read ↗

Germline pathogenic variant spectrum in 25 cancer susceptibility genes in Turkish breast and colorectal cancer patients and elderly controlsSemantic proximity Read ↗

Gene-Specific Cancer Patterns Among Pathogenic Germline Variant CarriersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.