Associated Papers
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan.
Samigatova A et al.
Scientific Reports, 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
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
From Biobank to Bedside: A Pilot Study on Returning Medically Actionable BRCA1/2 Results in Qatar's Precision Medicine Landscape.
Al Bader SB et al.
Biomedicines, 2025
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 2025
Genetic landscape of Pakistani familial breast cancer patients using multigene panel testing.
Rashid MU et al.
International Journal of Cancer, 2025
NRF2 expression level and estrogen function in BRCA1-mutated breast cancer.
Derismahafi Z et al.
Bmc Cancer, 2025
Germline mutation analysis and postoperative recurrence risk prediction in breast cancer patients from western China.
Deng Z et al.
Translational 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
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.
Elmetnawy W et al.
Scientific Reports, 2025
Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes.
Smith MJ et al.
Journal of Medical Genetics, 2025
5'UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin.
Sokolenko AP et al.
Familial Cancer, 2025
Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.
Guan X et al.
Bmc Cancer, 2025
Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.
Ekram SN et al.
Discover Oncology, 2025
Secondary findings in 443 exome sequencing data.
Branković M et al.
Annals of Human Genetics, 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
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Case Report: Clinical impact of BRCA1 and BRIP1 vs. BRCA1 and BRCA2 germline double heterozygosity in ovarian cancer: a comparative case study.
Zheng L et al.
Frontiers in Oncology, 2025
Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.
Moukadem HA et al.
World Journal of Clinical Oncology, 2024
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
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases.
Manirakiza AV et al.
Npj Genomic Medicine, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A 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
AcornHRD: an HRD algorithm highly associated with anthracycline-based neoadjuvant chemotherapy in breast cancer in China.
Pan JN et al.
European Journal of Medical Research, 2024
Double Heterozygosity for Germline Mutations in Chinese Breast Cancer Patients.
Kwong A et al.
Cancers, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.
Hinić S et al.
Jnci Cancer Spectrum, 2024
Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.
Andaluz S et al.
Bmc Genomics, 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
Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.
Fieuws C et al.
Npj Precision Oncology, 2024
Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.
de Freitas Ribeiro AA et al.
European Journal of Medical Research, 2024
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.
Tuncer SB et al.
Pathology, Research and Practice, 2024
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility.
Pinto EM et al.
Hgg Advances, 2024
Ethnicity-specific BRCA1, BRCA2, PALB2, and ATM pathogenic alleles in breast and ovarian cancer patients from the North Caucasus.
Sokolenko AP et al.
Breast Cancer Research and Treatment, 2024
Comprehensive germline profiling of patients with breast cancer: initial experience from a Familial Cancer Clinic.
Pramanik R et al.
Ecancermedicalscience, 2024