Associated Papers
Mutational landscape of triple-negative breast cancer in African American women.
Yao S et al.
Nature Genetics, 2025
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
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
Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.
Gracia B et al.
Cell Reports, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 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
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
Chasing the origin of 23 recurrent BRCA1 mutations in Pakistani breast and ovarian cancer patients.
Rashid MU et al.
International Journal of Cancer, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu J et al.
Genome Medicine, 2022
BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.
Kharel S et al.
The Journal of International Medical Research, 2022
Increased gene expression variability in BRCA1-associated and basal-like breast tumours.
Wiggins GAR et al.
Breast Cancer Research and Treatment, 2021
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Silvestri V et al.
Jama Oncology, 2020
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Li H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study.
Rashid MU et al.
Hereditary Cancer in Clinical Practice, 2019
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
Palmero EI et al.
Scientific Reports, 2018
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
Copson ER et al.
The Lancet. Oncology, 2018
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
Park JS et al.
Cancer Research and Treatment, 2017
Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
Zhao Q et al.
Journal of Gynecologic Oncology, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Inherited predisposition to breast cancer among African American women.
Churpek JE et al.
Breast Cancer Research and Treatment, 2015
BRCA1 haploinsufficiency for replication stress suppression in primary cells.
Pathania S et al.
Nature Communications, 2014
Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.
Farooq A et al.
Journal of Oncology, 2011
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.
Walker LC et al.
Plos Genetics, 2010
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
Waddell N et al.
Plos Genetics, 2008
Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.
Rashid MU et al.
International Journal of Cancer, 2006