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
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
Prevalence and impact of germline mutations in pancreatic ductal adenocarcinoma.
Kahraman EG et al.
Tumori, 2026
Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations.
Bujassoum Al-Bader S et al.
Molecular Genetics & Genomic Medicine, 2026
Germline BRCA1/2 Variants in Polish Patients with Family History of Breast and Ovarian Cancer: Prevalence, CNV Detection, and Identification of a Novel Loss-of-Function Mutation.
Skoczylas S et al.
Current Oncology (toronto, Ont.), 2025
A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription.
Minello A et al.
Nature Communications, 2025
The Concordance of Secondary Pathogenic Germline Variants Identified by Tumor Genomic Profiling in Adult Solid Tumor Patients at Two US Community Cancer Centers.
Moncado S et al.
Genes, 2025
Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.
Schadwell A et al.
Human Reproduction (oxford, England), 2025
Genetics and context for precision health in Greater Boston.
Koyama S et al.
Nature Communications, 2025
Screening of the founder pathogenic variants BRCA1 and BRCA2 in Russian metropolitan women.
Bodunova N et al.
Bmc Women's Health, 2025
Association between type and location of germline BRCA1/2 pathogenic or likely pathogenic variants with phenotype and prognosis in young patients with breast cancer: results from an international cohort study.
Toss A et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025
Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations.
Wu J et al.
Journal of Translational Medicine, 2025
Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth.
Buckley KH et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic and Epigenomic ctDNA Profiling in Liquid Biopsies from Heavily Pretreated Patients with DNA Damage Response-Deficient Tumors.
Silverman IM et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Breast biopsies and breast cancer risk in Israeli BRCA germline pathogenic variant carriers.
Madorsky Feldman D et al.
Breast Cancer Research and Treatment, 2025
Obstacles in genetic testing for germline BRCA1/2 pathogenic mutations in patients with primary breast and ovarian cancer in Switzerland.
Braun C et al.
Archives of Gynecology and Obstetrics, 2025
Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing.
Neumann C et al.
Jco Precision Oncology, 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
Contribution of Germline Predisposition to Pediatric Thyroid Cancer.
Harrison C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.
Roy S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.
Nahom D et al.
Familial Cancer, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Association of gene variant type and location with breast cancer risk in the general population.
Akamandisa MP et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2025
Genetic testing for BRCA1/2 variants in Northern African women with ovarian and breast cancers: a multicentre study of an under-represented ancestry.
Shohdy KS et al.
Esmo Open, 2025
Prostate cancer germline variants with therapeutic implications.
Bitaraf M et al.
Trends in Molecular Medicine, 2025
Germline Variant Burden Warrants Universal Genetic Testing in Pediatric Myeloid Leukemia.
Harmon LM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Characterization of Plasma Cell-Free DNA Variants as of Tumor or Clonal Hematopoiesis Origin in 16,812 Advanced Cancer Patients.
Magee D et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Genetic determinants of prostate cancer predisposition in Ashkenazi Jews.
Perletti G et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2025
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 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
CA125 Serum Levels in BRCA1/BRCA2 Pathogenic Sequence Variant Carriers as an Ovarian Cancer Screening Tool: A Longitudinal Study.
Madorsky Feldman D et al.
The Israel Medical Association Journal : Imaj, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Large-Scale Population Screening for BRCA1 and BRCA2 Ashkenazi Founder Mutations: Perspectives of Professionals Providing Oncogenetic Consultations.
Furman Y et al.
Breast Care (basel, Switzerland), 2025
Investigating synthetic lethality and PARP inhibitor resistance in pancreatic cancer through enantiomer differential activity.
Masi M et al.
Cell Death Discovery, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.
Osler TS et al.
Cancer Medicine, 2025
BRCA1 and BRCA2 Mutations in Polish Women with Ductal Carcinoma In Situ.
Feszak S et al.
Cancers, 2025
Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.
Sinan H et al.
Jco Precision Oncology, 2025
Clinical integration of germline findings from a tumor testing precision medicine program.
Sanabria-Salas MC et al.
Bmc Cancer, 2025
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).
Torr B et al.
Journal of Medical Genetics, 2025
[Expert consensus on the standardized application of whole exome sequencing technology in diagnosis of genetic disorders].
Medical Genetics Branch Of Chinese Medical Association et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025