Associated Papers
Whole-genome landscapes of 1,364 breast cancers.
Kim R et al.
Nature, 2026
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study.
Shirota H et al.
Cancer Medicine, 2025
Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus.
Lin Q et al.
Frontiers in Genetics, 2025
Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.
Matusin SNI et al.
Plos One, 2025
The immune response-related genomic alterations in patients with malignant melanoma.
Li L et al.
Medicine, 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area.
Wu Z et al.
Bmc Cancer, 2024
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
Phase II study of nivolumab in patients with genetic alterations in DNA damage repair and response who progressed after standard treatment for metastatic solid cancers (KM-06).
Kim JW et al.
Journal for Immunotherapy of Cancer, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.
Li Y et al.
Bmc Cancer, 2022
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.
Qorri E et al.
International Journal of Molecular Sciences, 2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.
Wen H et al.
Bmc Cancer, 2022
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Kasugai Y et al.
Cancer Science, 2022
Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort.
Casaletto J et al.
Cell Genomics, 2022
The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.
Luo Y et al.
International Journal of General Medicine, 2022
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
Chian J et al.
Frontiers in Molecular Biosciences, 2021
Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population.
Li D et al.
Breast Cancer (tokyo, Japan), 2020
Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.
Ha HI et al.
Journal of Gynecologic Oncology, 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
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.
Momozawa Y et al.
Journal of the National Cancer Institute, 2020
GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2.
Lee EJ et al.
Annals of Clinical and Laboratory Science, 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Insights into BRCA Cancer Predisposition from Integrated Germline and Somatic Analyses in 7632 Cancers.
Yost S et al.
Jnci Cancer Spectrum, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Kim B et al.
Plos One, 2019
Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Fraile-Bethencourt E et al.
Frontiers in Genetics, 2019
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Lee JW et al.
Plos One, 2019
Frequency of BRCA1 and BRCA2 Mutations in Individuals with Breast and Ovarian Cancer in a Chinese Hakka Population Using Next-Generation Sequencing.
Wu H et al.
Human Heredity, 2019
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.
Eoh KJ et al.
Cancer Research and Treatment, 2018
Association between homologous recombination repair gene mutations and response to oxaliplatin in pancreatic cancer.
Kondo T et al.
Oncotarget, 2018