ReviewBMC medical genetics2019
BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature.
Review in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Skin Cancer Predisposition Genes, Full-Body Skin Examinations, Familial Disclosure, and Genetic Testing Among High-Risk Individuals.International journal of dermatology · 2026Article
- The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026Article
- Effects of hydrazone-based G-quadruplex ligands onNAR cancer · 2025Article
- Article
- FANCJ DNA helicase is recruited to the replisome by AND-1 to ensure genome stability.EMBO reports · 2024Article
- Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer.BMC research notes · 2023Article
- The genomic landscape of familial glioma.Science advances · 2023Article
- Spectrum of BRCA1 interacting helicase 1 aberrations and potential prognostic and therapeutic implication: a pan cancer analysis.Scientific reports · 2023Article
- Article
- Insights into the Oncogenic, Prognostic, and Immunological Role of BRIP1 in Pan-Cancer: A Comprehensive Data-Mining-Based Study.Journal of oncology · 2023Article
- Leptomeningeal disease in BRIP1-mutated pancreatic adenocarcinoma.BMJ case reports · 2022Article
- Fanconi Anemia Pathway in Colorectal Cancer: A Novel Opportunity for Diagnosis, Prognosis and Therapy.Journal of personalized medicine · 2022Review
- Homologous Recombination Deficiencies and Hereditary Tumors.International journal of molecular sciences · 2021Review
- Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.Molecular cancer research : MCR · 2021Article
- Comprehensive analyses of correlation and survival reveal informative lncRNA prognostic signatures in colon cancer.World journal of surgical oncology · 2021Article
- The repair geneOncology reviews · 2021Article
- Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.Cancer medicine · 2021Article
- Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.Frontiers in genetics · 2021Article
- Intracellular hyaluronic acid-binding protein 4 (HABP4): a candidate tumor suppressor in colorectal cancer.Oncotarget · 2020Article
- Novel role of BRCA1 interacting C-terminal helicase 1 (BRIP1) in breast tumour cell invasion.Journal of cellular and molecular medicine · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in "novel" genes as conferring an increased risk of colorectal cancer. Mutations in the BRIP1 gene (BRCA1 Interacting Protein C- terminal helicase 1) are known to increase the risk of ovarian and breast cancers, but this genes association with colon cancer has not been previously reported. CASE PRESENTATION: We describe two patients with colon cancer whose tumor tissue were found to harbor BRIP1 mutations on analysis by next-generation sequencing. These patients were confirmed by analysis of lymphocytes to carry the mutation in the germline as well.
conclusionsThese case reports highlight a previously unreported association of BRIP1 germline mutations with colon cancer predisposition.
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Registered trials
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.