ArticleCancer science2020
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
Article in Cancer science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Next-generation sequencing-based characterization of BRCA1/2 variants across multiple tumor types in Vietnamese patients.BMC cancer · 2026Article
- Genetic testing for hereditary breast and ovarian cancer in the Murcian population using a comprehensive NGS panel.Familial cancer · 2026Article
- Clinicopathological features of Chinese ovarian cancer patients with double heterozygosity for cancer-predisposed genes.BMC cancer · 2025Article
- Prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from Yunnan Province in southwest China.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2025Article
- Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.Scientific reports · 2025Article
- Controversies and clinical unknowns in the use of PARP inhibitors in ovarian cancer.Therapeutic advances in medical oncology · 2025Review
- Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.Molecular genetics & genomic medicine · 2024Article
- Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novelmedRxiv : the preprint server for health sciences · 2024Article
- Prevalence of BRCA mutation in breast and ovarian cancer among women in India: A systematic review and meta-analysis protocol.PloS one · 2024Article
- Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.Frontiers in oncology · 2024Article
- Assessment of medical knowledge toward genetic testing for individuals with hereditary breast and ovarian cancer syndrome in Brazil.Preventive medicine reports · 2023Article
- Circadian pattern subtyping unveiling distinct immune landscapes in breast cancer patients for better immunotherapy.Cancer immunology, immunotherapy : CII · 2023Article
- What is the appropriate genetic testing criteria for breast cancer in the Chinese population?-Analysis of genetic and clinical features from a single cancer center database.Cancer medicine · 2023Article
- Thyroid Cancer, Neuroendocrine Tumor, Adrenal Adenoma, and Other Tumors in a Patient With a GermlineJournal of the Endocrine Society · 2023Article
- Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.PloS one · 2023Article
- Hereditary breast cancer and fertility preservation outcomes.Journal of assisted reproduction and genetics · 2022Article
- Overview on population screening for carriers with germline BRCA mutation in China.Frontiers in oncology · 2022Review
- BTN3A3 inhibits the proliferation, migration and invasion of ovarian cancer cells by regulating ERK1/2 phosphorylation.Frontiers in oncology · 2022Article
- A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients.Gastroenterology report · 2021Article
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Authors and funding
16 authors at 2 institutions in 2 countries.
Funding
Abstract
Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP-ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n = 172) of individuals. Twenty-six of 176 mutations could not be retrieved in related public databases and were considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (P < .05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment.
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