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
Mutational and low-coverage whole genome sequencing identifies actionable DNA repair alterations in prostate cancer plasma DNA.
Virga A et al.
Scientific Reports, 2025
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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
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
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
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
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 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
Clinical Impact of Next-Generation Sequencing Multi-Gene Panel Highlighting the Landscape of Germline Alterations in Ovarian Cancer Patients.
Gurioli G et al.
International Journal of Molecular Sciences, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho PJ et al.
Bmc Medicine, 2022
The Impact of Mediterranean Dietary Intervention on Metabolic and Hormonal Parameters According to BRCA1/2 Variant Type.
Oliverio A et al.
Frontiers in Genetics, 2022
Germline breast cancer susceptibility genes, tumor characteristics, and survival.
Ho PJ et al.
Genome Medicine, 2021
Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
Sandoval RL et al.
Plos One, 2021
Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.
Liu J et al.
Nature Communications, 2020
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Santonocito C et al.
Cancers, 2020
Mutation HOXB13 c.853delT in Martinican prostate cancer patients.
Marlin R et al.
The Prostate, 2020
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
BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants.
Concolino P et al.
International Journal of Molecular Sciences, 2019
Cytology material is equivalent to tumor tissue in determining mutations of BRCA 1/2 genes in patients with tubo-ovarian high grade serous carcinoma.
Gornjec A et al.
Bmc Cancer, 2019
BRCA Mutation Status to Personalize Management of Recurrent Ovarian Cancer: A Multicenter Study.
Marchetti C et al.
Annals of Surgical Oncology, 2018
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI et al.
Scientific Reports, 2018
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.
Wen WX et al.
Journal of Medical Genetics, 2018
Tumor BRCA1 Reversion Mutation Arising during Neoadjuvant Platinum-Based Chemotherapy in Triple-Negative Breast Cancer Is Associated with Therapy Resistance.
Afghahi A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
Wong-Brown MW et al.
Breast Cancer Research and Treatment, 2015
Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations.
Seymour IJ et al.
Breast Cancer Research and Treatment, 2008
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
Moreira ES et al.
Journal of Medical Genetics, 2003