Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Molecular profiling and tumour biomarker analysis of GOG281/LOGS: a positive late-phase trial of trametinib for recurrent/persistent low grade-serous ovarian cancer.
Hollis RL et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.
Zwimpfer TA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.
Reiner AS et al.
Jama Network Open, 2024
Germline BRCA1/2 status and chemotherapy response score in high-grade serous ovarian cancer.
Morgan RD et al.
British Journal of Cancer, 2024
PARP Inhibitors in Pancreatic Cancer with Homologous Recombination Repair Gene Mutations: A Single-Institution Experience.
Miao R et al.
Cancers, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Prevalence and Risk Factors of Germline Pathogenic Variants in Pancreatic Ductal Adenocarcinoma.
Ryu KH et al.
Cancer Research and Treatment, 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
Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.
Mori T et al.
Cancer Medicine, 2023
Genetic medicine in companion diagnostics of germline BRCA testing of Japanese pancreatic cancer patients.
Matsubayashi H et al.
Journal of Human Genetics, 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
TP53 variants in p53 signatures and the clonality of STICs in RRSO samples.
Akahane T et al.
Journal of Gynecologic Oncology, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.
Chandrasekaran D 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
Longitudinal and multi-tissue molecular diagnostics track somatic BRCA2 reversion mutations that correct the open reading frame of germline alteration upon clinical relapse.
Sorrells S et al.
Npj Genomic Medicine, 2021
Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.
Lattimore V et al.
Breast Cancer Research and Treatment, 2021
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer.
Li L et al.
Computational and Mathematical Methods in Medicine, 2021
Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.
Turashvili G et al.
Cancers, 2020
Prostate Cancer Risk by BRCA2 Genomic Regions.
Nyberg T et al.
European Urology, 2020
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
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
Shin HC et al.
Cancer Research and Treatment, 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
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.
De Talhouet S et al.
Scientific Reports, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH et al.
Biomed Research International, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.
Petridis C et al.
Breast Cancer Research : Bcr, 2019
Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility.
Rowley SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.
Machackova E et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Copson ER et al.
The Lancet. Oncology, 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
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.
Castéra L et al.
European Journal of Human Genetics : Ejhg, 2014