Associated Papers
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Determinants of long-term response to patritumab deruxtecan in breast cancer patient-derived xenografts.
Òdena A et al.
Npj Precision Oncology, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline pathogenic variants in DNA repair pathways: a key feature in a significant subset of translocation-associated sarcomas.
Saoud C et al.
Npj Precision Oncology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report.
Finsterer J
Cureus, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A et al.
Genome Medicine, 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
Spatial Transcriptomics Suggests That Alterations Occur in the Preneoplastic Breast Microenvironment of BRCA1/2 Mutation Carriers.
Caputo A et al.
Molecular Cancer Research : Mcr, 2024
The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.
Bolze A et al.
Jama Oncology, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Bolze A et al.
Genetics in Medicine Open, 2024
BRACNAC: A BRCA1 and BRCA2 Copy Number Alteration Caller from Next-Generation Sequencing Data.
Kechin A et al.
International Journal of Molecular Sciences, 2023
Potential pathogenic germline variant reporting from tumor comprehensive genomic profiling complements classic approaches to germline testing.
Tung N et al.
Npj Precision Oncology, 2023
Alterations in the preneoplastic breast microenvironment of BRCA1/2 mutation carriers revealed by spatial transcriptomics.
Caputo A et al.
Biorxiv : the Preprint Server for Biology, 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
Racial and ethnic variation in BRCA1 and BRCA2 genetic test results among individuals referred for genetic counseling at a large urban comprehensive cancer center.
Abdallah N et al.
Cancer Causes & Control : Ccc, 2023
Germline pathogenic variants in 786 neuroblastoma patients.
Kim J et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Durable Response after Olaparib Treatment for Perihilar Cholangiocarcinoma with Germline BRCA2 Mutation.
Costa BA et al.
Oncology Research and Treatment, 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
Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.
Zhang Y et al.
Bmc Cancer, 2022
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
Ossa Gomez CA et al.
Jco Global Oncology, 2022
CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.
Li Q et al.
Science Advances, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.
Molina-Zayas M et al.
Molecular Genetics and Genomics : Mgg, 2022
Variomes: a high recall search engine to support the curation of genomic variants.
Pasche E et al.
Bioinformatics (oxford, England), 2022
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
Loke J et al.
Hgg Advances, 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
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
A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.
Chiang YC et al.
Biomedicines, 2021
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Ren M et al.
Breast Cancer Research and Treatment, 2021
Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
Herzog JS et al.
Npj Breast Cancer, 2021
BRCA1/2 mutations and risk-reducing bilateral salpingo-oophorectomy among Latinas: The UPTAKE study.
Lynce F et al.
Journal of Genetic Counseling, 2021
Implementing genomic screening in diverse populations.
Abul-Husn NS et al.
Genome Medicine, 2021
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Figlioli G et al.
Cancers, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.
Biswas K et al.
Npj Genomic Medicine, 2020
ERCC3, a new ovarian cancer susceptibility gene?
Stradella A et al.
European Journal of Cancer (oxford, England : 1990), 2020