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
Characteristics of Chinese breast cancer patients with double heterozygosity for BRCA1 and BRCA2 germline pathogenic variants.
Wen S et al.
Breast Cancer Research and Treatment, 2024
Genetic Testing of Breast Cancer Patients with Very Early-Onset Breast Cancer (≤30 Years) Yields a High Rate of Germline Pathogenic Variants, Mainly in the BRCA1, TP53, and BRCA2 Genes.
Apostolou P et al.
Cancers, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 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
Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.
Wei B et al.
Cancer Medicine, 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
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.
Karalidou V et al.
Biomolecules, 2022
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.
Chian J et al.
Frontiers in Molecular Biosciences, 2021
One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.
Fostira F et al.
Journal of Medical Genetics, 2020
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y et al.
Human Mutation, 2019
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
Germline breast cancer susceptibility gene mutations and breast cancer outcomes.
Wang YA et al.
Bmc Cancer, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Lesueur F et al.
Frontiers in Oncology, 2018
Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing.
Franceschi S et al.
Neuro-oncology, 2016
High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.
Konstantopoulou I et al.
Clinical Genetics, 2014