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
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes.
Smith MJ et al.
Journal of Medical Genetics, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Extended panel testing in ovarian cancer reveals BRIP1 as the third most important predisposition gene.
Morgan RD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Purification and biochemical characterization of the G4 resolvase and DNA helicase FANCJ.
Kulikowicz T et al.
Methods in Enzymology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A et al.
Nature Communications, 2023
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H et al.
Journal of Medical Genetics, 2023
The genomic landscape of familial glioma.
Choi DJ et al.
Science Advances, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Dominant-negative pathogenic variant BRIP1 c.1045G>C is a high-risk allele for non-mucinous epithelial ovarian cancer: A case-control study.
Flaum N et al.
Clinical Genetics, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.
Calvo JA et al.
Molecular Cancer Research : Mcr, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.
Kamal L et al.
Cold Spring Harbor Molecular Case Studies, 2020
Cancer-associated mutations in the iron-sulfur domain of FANCJ affect G-quadruplex metabolism.
Odermatt DC et al.
Plos Genetics, 2020
Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer.
Moyer CL et al.
Cancer Research, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.
Wachnowsky C et al.
Metallomics : Integrated Biometal Science, 2018
FANCJ helicase controls the balance between short- and long-tract gene conversions between sister chromatids.
Nath S et al.
Nucleic Acids Research, 2017
Mutational analysis of FANCJ helicase.
Guo M et al.
Methods (san Diego, Calif.), 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
Update of the human and mouse Fanconi anemia genes.
Dong H et al.
Human Genomics, 2015
Biogenesis of cytosolic and nuclear iron-sulfur proteins and their role in genome stability.
Paul VD et al.
Biochimica Et Biophysica Acta, 2015
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.
Bharti SK et al.
Cellular and Molecular Life Sciences : Cmls, 2014
Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations.
Guo M et al.
The Journal of Biological Chemistry, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 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
Molecular and cellular functions of the FANCJ DNA helicase defective in cancer and in Fanconi anemia.
Brosh RM et al.
Frontiers in Genetics, 2014
Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability.
Bharti SK et al.
The Journal of Biological Chemistry, 2013
DNA helicases associated with genetic instability, cancer, and aging.
Suhasini AN et al.
Advances in Experimental Medicine and Biology, 2013
The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function.
Wu Y et al.
The Journal of Biological Chemistry, 2012
DNA helicase and helicase-nuclease enzymes with a conserved iron-sulfur cluster.
Wu Y et al.
Nucleic Acids Research, 2012
Fanconi anemia and Bloom's syndrome crosstalk through FANCJ-BLM helicase interaction.
Suhasini AN et al.
Trends in Genetics : Tig, 2012
Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management.
Pagano G et al.
Biological Chemistry, 2012
Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.
Cantor SB et al.
Future Oncology (london, England), 2011