ArticleOncotarget2016
Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 of them syntheses that pooled it.
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Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Characterization of the HER2 status in BRCA-mutated breast cancer: a single institutional series and systematic review with pooled analysis.ESMO open · 2022Pooled it
- Summary ofGenes · 2020Pooled it
- MDM2 promoter SNP55 (rs2870820) affects risk of colon cancer but not breast-, lung-, or prostate cancer.Scientific reports · 2016Trial
- Association of homologous recombination repair gene mutation with clinical prognosis in histological subtypes of epithelial ovarian cancer patients.Journal of gynecologic oncology · 2026Article
- A potential mutation-defined POLE/MMR/TP53 group classifications to stratify BRCA wild type epithelial ovarian cancer.Journal of ovarian research · 2026Article
- Frequency of Founder Mutations inCancers · 2026Review
- Genomic landscape of cancer driver genes in Omani breast cancers: a pilot study.Breast cancer research : BCR · 2025Article
- Mono-allelic MUTYH mutation as the likely inherited etiology of hereditary breast cancer in a patient from a multi-cancer family- report of a family and literature review.BMC medical genomics · 2025Review
- Article
- Prevalence and Distribution of MUTYH Pathogenic Variants, Is There a Relation with an Increased Risk of Breast Cancer?Cancers · 2024Article
- Article
- Marginal Contribution of PathogenicJournal of cancer & allied specialties · 2024Article
- Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.Oncotarget · 2023Article
- Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome.Journal of gynecologic oncology · 2023Article
- What Is Known about Breast Cancer in Young Women?Cancers · 2023Review
- Molecular Genetic Characteristics ofGenes · 2023Article
- Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.PloS one · 2023Article
- Deciphering Genetic Alterations of Taiwanese Patients with Pancreatic Adenocarcinoma through Targeted Sequencing.International journal of molecular sciences · 2022Article
- Association of Homologous Recombination-DNA Damage Response Gene Mutations with Immune Biomarkers in Gastroesophageal Cancers.Molecular cancer therapeutics · 2022Article
- Classification of the canonical splice alterationCold Spring Harbor molecular case studies · 2022Article
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since BRCA mutations are only responsible for 10-20% of cases of breast cancer in patients with early-onset or a family history and since next-generation sequencing technology allows the simultaneous sequencing of a large number of target genes, testing for multiple cancer-predisposing genes is now being considered, but its significance in clinical practice remains unclear. We then developed a sequencing panel containing 68 genes that had cancer risk association for patients with early-onset or familial breast cancer. A total of 133 patients were enrolled and 30 (22.6%) were found to carry germline deleterious mutations, 9 in BRCA1, 11 in BRCA2, 2 in RAD50, 2 in TP53 and one each in ATM, BRIP1, FANCI, MSH2, MUTYH, and RAD51C. Triple-negative breast cancer (TNBC) was associated with the highest mutation rate (45.5%, p = 0.025). Seven of the 9 BRCA1 mutations and the single FANCI mutation were in the TNBC group; 9 of the 11 BRCA2, 1 of the 2 RAD50 as well as BRIP1, MSH2, MUTYH, and RAD51C mutations were in the hormone receptor (HR)(+)Her2(-) group, and the other RAD50, ATM, and TP53 mutations were in the HR(+)Her2(+) group. Mutation carriers were considered as high-risk to develop malignancy and advised to receive cancer screening. Screening protocols of non-BRCA genes were based on their biologic functions; for example, patients carrying RAD51C mutation received a screening protocol similar to that for BRCA, since BRCA and RAD51C are both involved in homologous recombination. In conclusion, we consider that multiple gene sequencing in cancer risk assessment is clinically valuable.
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