ArticleJournal of cellular and molecular medicine2020
Identification of a novel germline BRCA2 variant in a Chinese breast cancer family.
Article in Journal of cellular and molecular medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 23 citations in OpenAlex.
- Assessing 23 Y-STR loci mutation rates in Chinese Han father-son pairs from southwestern China.Molecular biology reports · 2020Trial
- Generating a database by calculating the pathogenic variants and allele frequencies detected in hereditary cancers using genomic data: A nation study.Global medical genetics · 2025Article
- Exploring breast cancer associated-gene panel for next-generation sequencing and identifying new, pathogenic variants in breast cancer from western China.Journal of Cancer · 2025Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Quality Assessment of YouTube Videos As Information Source for Breast Self-Examination.Cureus · 2024Article
- Genetic Polymorphism Analysis of 24 Y-STRs in a Han Chinese Population in Luzhou, Southwest China.Genes · 2023Article
- Predicting Quality of Life in Women with Breast Cancer Who Engage in Physical Exercise: The Role of Psychological Variables.Healthcare (Basel, Switzerland) · 2023Article
- Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1.BMC medical genomics · 2023Article
- Mutational Analysis ofCancer management and research · 2022Article
- Breast cancer and physical activity: A bibliometric analysis.Frontiers in oncology · 2022Review
- TQFL12, a novel synthetic derivative of TQ, inhibits triple-negative breast cancer metastasis and invasion through activating AMPK/ACC pathway.Journal of cellular and molecular medicine · 2021Article
- Article
- Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.Molecular medicine reports · 2020Article
- Article
- A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.Journal of cellular and molecular medicine · 2020Article
- New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.Molecular biology reports · 2020Article
- Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Bioscience reports · 2020Article
- Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in theFrontiers in genetics · 2020Article
- Identification of a novel germline BRCA2 variant in a Chinese breast cancer family.Journal of cellular and molecular medicine · 2020Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer-related deaths in women worldwide. In this study, a large Chinese pedigree with breast cancer including a proband and two female patients was recruited and a familial history of breast cancer was collected by questionnaire. Clinicopathological assessments and neoadjuvant therapy-related information were obtained for the proband. Blood samples were taken, and gDNA was extracted. The BRCA1/2 and PALB2 genes were screened using next-generation sequencing by a targeted gene panel. We have successfully identified a novel, germline heterozygous, missense mutation of the gene BRCA2: c.7007G>T, p.R2336L, which is likely to be pathogenic in the proband and her elder sister who both had breast cancer. Furthermore, the risk factors for developing breast cancer in this family are discussed. Thus, genetic counselling and long-term follow-up should be provided for this family of breast cancer patients as well as carriers carrying a germline variant of BRCA2: c.7007G>T (p.R2336L).
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.