Associated Papers
The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers.
Alenezi WM et al.
International Journal of Molecular Sciences, 2026
Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.
Parra A et al.
Cancers, 2025
Phase II Study of Niraparib in Patients With Advanced Melanoma With Homologous Recombination Pathway Gene Mutations.
Kim KB et al.
Jco Precision Oncology, 2025
Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with RAD50, RAD51C/D, and BRIP1 Germline Mutations, Results of NGS-Reanalysis of BRCA/MMR-Negative Families.
Arranz-Ledo M et al.
Genes, 2025
Alterations in DNA Damage Repair Genes Before and After Neoadjuvant Cisplatin-based Chemotherapy in Muscle-invasive Bladder Cancer.
Lemberger U et al.
European Urology Open Science, 2025
Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.
Meijer TG et al.
Cancers, 2024
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Next generation sequencing in a cohort of patients with rare sarcoma histotypes: A single institution experience.
Tirrò E et al.
Pathology, Research and Practice, 2022
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
Tuncay IO et al.
Npj Genomic Medicine, 2022
PRMT1-dependent regulation of RNA metabolism and DNA damage response sustains pancreatic ductal adenocarcinoma.
Giuliani V et al.
Nature Communications, 2021
The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.
Fierheller CT et al.
Cancers, 2021
Next-generation sequencing in thyroid cancers: do targetable alterations lead to a therapeutic advantage?: A multicenter experience.
Moore A et al.
Medicine, 2021
Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.
Ak M et al.
Genes, 2021
Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.
Moradian MM et al.
Human Genome Variation, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.
Velázquez C et al.
Cancers, 2020
Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.
Jarhelle E et al.
Scientific Reports, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Potjer TP et al.
International Journal of Cancer, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.
West AH et al.
Familial Cancer, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Identification of genetic variants for clinical management of familial colorectal tumors.
Dominguez-Valentin M et al.
Bmc Medical Genetics, 2018
A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.
Sun JX et al.
Plos Computational Biology, 2018
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Muscat AM et al.
Oncotarget, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Casolari DA et al.
Scientific Reports, 2017
BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.
Venkateshwari A et al.
Journal of Breast Cancer, 2017
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.
Kim H et al.
Cancer Research and Treatment, 2016
BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.
Kemper K et al.
Cell Reports, 2016
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
Easton DF et al.
Journal of Medical Genetics, 2016
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Abedalthagafi MS et al.
Oncotarget, 2014
The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.
Mauer CB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families.
Catucci I et al.
Familial Cancer, 2012
BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer.
Wong MW et al.
Breast Cancer Research and Treatment, 2011
Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families.
Ray AM et al.
British Journal of Cancer, 2009
Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.
Rebbeck TR et al.
Cancer Research, 2009
Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.
Guénard F et al.
Journal of Human Genetics, 2008
BACH1 Ser919Pro variant and breast cancer risk.
Vahteristo P et al.
Bmc Cancer, 2006
Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.
Rutter JL et al.
Human Mutation, 2003
Disease-causing missense mutations in human DNA helicase disorders.
Suhasini AN et al.
Mutation Research, 0