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
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 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
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 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
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 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
Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.
Zhang Y et al.
Bmc Cancer, 2022
TP53 variants in p53 signatures and the clonality of STICs in RRSO samples.
Akahane T et al.
Journal of Gynecologic Oncology, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 2022
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
Lee DJ et al.
European Urology, 2022
Functional RECAP (REpair CAPacity) assay identifies homologous recombination deficiency undetected by DNA-based BRCAness tests.
Meijer TG et al.
Oncogene, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 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
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
Significant detection of new germline pathogenic variants in Australian Pancreatic Cancer Screening Program participants.
Murali K et al.
Hereditary Cancer in Clinical Practice, 2021
Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.
Sekine M et al.
Genes, 2021
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
Lertwilaiwittaya P et al.
Breast Cancer Research and Treatment, 2021
Laboratory Verification of a BRCA1 and BRCA2 Massively Parallel Sequencing Assay from Wet Bench to Bioinformatics for Germline DNA Analysis.
Poon KS et al.
Global Medical Genetics, 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
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
Chian J et al.
Frontiers in Molecular Biosciences, 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