Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.
So MK et al.
Diagnostics (basel, Switzerland), 2024
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer.
Lintas C et al.
Genes, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model.
Guo Q et al.
Journal of Human Genetics, 2023
BRCA1 frameshift variants leading to extended incorrect protein C termini.
Nepomuceno TC et al.
Hgg Advances, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.
Qin Z et al.
International Journal of Cancer, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Increasing our knowledge of germline variants.
Matsumura N
International Cancer Conference Journal, 2022
Germline variant of BRCA1 c.5332G>A has clinical features of hereditary breast and ovarian cancer syndrome.
Saita C et al.
International Cancer Conference Journal, 2022
A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.
Park KS et al.
Cancers, 2021
Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.
Kim JH et al.
Scientific Reports, 2021
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Landrith T et al.
Npj Precision Oncology, 2020
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam R et al.
Jama Network Open, 2019
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant.
Minucci A et al.
Clinical Biochemistry, 2019
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Accurate classification of BRCA1 variants with saturation genome editing.
Findlay GM et al.
Nature, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.
Yang C et al.
Breast Cancer Research and Treatment, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
Ryu JM et al.
Breast (edinburgh, Scotland), 2017
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
Ahlborn LB et al.
Breast Cancer Research and Treatment, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer.
Bielinska B et al.
Familial Cancer, 2013
Common low-penetrance risk variants associated with breast cancer in Polish women.
Ledwoń JK et al.
Bmc Cancer, 2013
High frequency of BRCA1 founder mutations in Polish women with nonfamilial breast cancer.
Gaj P et al.
Familial Cancer, 2012
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C et al.
Human Mutation, 2012
BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.
Keshavarzi F et al.
Familial Cancer, 2012
BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
Cherbal F et al.
Disease Markers, 2012
Identification of BRCA1-deficient ovarian cancers.
Skytte AB et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2011
Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer.
Keshavarzi F et al.
Iranian Journal of Public Health, 2011
Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.
Pettigrew C et al.
Breast Cancer Research : Bcr, 2005
Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.
Loman N et al.
Journal of the National Cancer Institute, 2001