Associated Papers
Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.
Mariya T et al.
Human Genome Variation, 2026
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
Establishing the First Genetic Variant Registry for Breast and Ovarian Cancer in Colombia: Insights and Implications.
Deugd R et al.
Diseases (basel, Switzerland), 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.
Faulkner LG et al.
Cancer Investigation, 2025
BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.
Al Amri WS et al.
The Oncologist, 2024
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.
Rezoug Z et al.
Jama Network Open, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.
Idogawa M et al.
Journal of Human Genetics, 2024
Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.
Ho WK et al.
The Lancet Regional Health. Western Pacific, 2024
Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.
Berko ER et al.
Nature Communications, 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
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
Rao ND et al.
Plos One, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 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
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
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature.
Aref-Eshghi E et al.
Journal of Human Genetics, 2020
Brca2 deficiency drives gastrointestinal tumor formation and is selectively inhibited by mitomycin C.
Chen X et al.
Cell Death & Disease, 2020
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls.
Behl S et al.
Scientific Reports, 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
Clinicopathological features of women with epithelial ovarian cancer and double heterozygosity for BRCA1 and BRCA2: A systematic review and case report analysis.
Le Page C et al.
Gynecologic Oncology, 2020
Germline mutation and aberrant transcripts of WWOX in a syndrome with multiple primary tumors.
Xu A et al.
The Journal of Pathology, 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
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
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.
Kim YC et al.
Oncotarget, 2016
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.
Kang E et al.
Breast Cancer Research and Treatment, 2015
A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.
Belanger MH et al.
Journal of Ovarian Research, 2015
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.
Degrolard-Courcet E et al.
European Journal of Human Genetics : Ejhg, 2014