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
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.
Park YH et al.
Scientific Reports, 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
Prostate-specific antigen screening at low thresholds of men with pathogenic BRCA1/2 variants.
Stroomberg HV et al.
Prostate Cancer and Prostatic Diseases, 2025
Germline variants analysis of Chinese breast cancer patients reveals numerous alterations in homologous recombination genes.
Jiang Z et al.
Future Science Oa, 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
Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.
Prassas B et al.
Cancer Medicine, 2025
Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.
Munch AK et al.
Cancers, 2025
Population-based study of recurrent DNA damage response gene variants in breast cancer cases.
Tervasmäki A et al.
Breast Cancer Research and Treatment, 2025
Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.
Al Ali AAAA et al.
Journal of Cancer Research and Clinical Oncology, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Distinct molecular signatures of upper tract urothelial carcinoma in Southwestern Taiwan: implications for targeted therapy and disease progression.
Shen CH et al.
American Journal of Cancer Research, 2025
Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.
Kerr SM et al.
European Journal of Human Genetics : Ejhg, 2024
Germline Genetic Susceptibility Testing Among Emirati Nationals at Risk for Hereditary Breast and Ovarian Cancer Syndrome.
Rawashdeh RR et al.
Jco Global Oncology, 2024
Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).
Pitiot AS et al.
Clinical Genetics, 2024
Inhibition of Aberrantly Overexpressed Polo-like Kinase 4 Is a Potential Effective Treatment for DNA Damage Repair-Deficient Uterine Leiomyosarcoma.
Lee HHY et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.
Corrêa TS et al.
Genes, 2024
A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.
Gervas P et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2024
Cosmic Whirl: Navigating the Comet Trail in DNA: H2AX Phosphorylation and the Enigma of Uncertain Significance Variants.
Ustun Yilmaz S et al.
Genes, 2024
The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients.
Makhetha M et al.
Journal of Genetic Counseling, 2024
Clinicopathological characteristics and eligibility for adjuvant olaparib of germline BRCA1/2 mutation carriers with HER2-negative early breast cancer.
Morganti S et al.
Npj Breast Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
Gender-Specific Genetic Predisposition to Breast Cancer: BRCA Genes and Beyond.
Valentini V et al.
Cancers, 2024
The Risk Function of Breast and Ovarian Cancers in the Avrami-Dobrzyński Cellular Phase-Transition Model.
Zawadzka A et al.
International Journal of Molecular Sciences, 2024
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.
Chen C et al.
Cell Discovery, 2023
Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients.
Vidarsdottir L et al.
Npj Breast Cancer, 2023
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer.
Öfverholm A et al.
Bmc Cancer, 2023
Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh-frozen breast/ovarian tumor versus blood.
Schwartz M et al.
Clinical Genetics, 2023
BRCA1 and BRCA2 carriers with breast, ovarian and prostate cancer demonstrate a different pattern of metastatic disease compared with non-carriers: results from a rapid autopsy programme.
Thorne H et al.
Histopathology, 2023
A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.
Boga I et al.
European Journal of Breast Health, 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
Founder vs. non-founder BRCA1/2 pathogenic alleles: the analysis of Belarusian breast and ovarian cancer patients and review of other studies on ethnically homogenous populations.
Yanus GA et al.
Familial Cancer, 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
BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Wei CH et al.
Plos One, 2023
Pathogenic Variant Spectrum in Breast Cancer Risk Genes in Finnish Patients.
Nurmi AK et al.
Cancers, 2022
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Shah JB et al.
Nature Communications, 2022
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.
Bisgin A et al.
Breast (edinburgh, Scotland), 2022