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
Robust Assessment of Homologous Recombination Deficiency Genomic Instability by OncoScan Microarrays.
Lara Gutierrez A et al.
The Journal of Molecular Diagnostics : Jmd, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.
Osler TS et al.
Cancer Medicine, 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
Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.
Makhetha M et al.
South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression.
Steffens Reinhardt L et al.
International Journal of Molecular Sciences, 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
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C et al.
Communications Biology, 2022
Identification of Shared Neoantigens in BRCA1-Related Breast Cancer.
Ruangapirom L et al.
Vaccines, 2022
Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.
Zhang Y et al.
Bmc 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
Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.
ElBiad O et al.
Bmc Cancer, 2022
Prevalence of Clinically Relevant Germline BRCA Variants in a Large Unselected South African Breast and Ovarian Cancer Cohort: A Public Sector Experience.
Van der Merwe NC et al.
Frontiers in Genetics, 2022
Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector.
van der Merwe NC et al.
Frontiers in Oncology, 2022
BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing.
Szczerba E et al.
Genes, 2021
Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients.
Li J et al.
Frontiers in Oncology, 2021
Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics.
Mampunye L et al.
Frontiers in Oncology, 2021
New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.
Diop JPD et al.
Frontiers in Oncology, 2021
Five Italian Families with Two Mutations in BRCA Genes.
Vietri MT et al.
Genes, 2020
Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal.
Ndiaye R et al.
Npj Genomic Medicine, 2020
Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study.
Oosthuizen J et al.
Frontiers in Oncology, 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
Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer.
Vargas E et al.
The Oncologist, 2019
A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.
Tyran M et al.
Cancers, 2019
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
Genetics of breast cancer in African populations: a literature review.
Abbad A et al.
Global Health, Epidemiology and Genomics, 2018
Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.
Wu H et al.
Gene Therapy, 2017
New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.
Plaskocinska I et al.
Journal of Medical Genetics, 2016
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
Francies FZ et al.
Bmc Cancer, 2015
BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.
Cecener G et al.
Cancer Investigation, 2014
Two double heterozygotes in a South African Afrikaner family: implications for BRCA1 and BRCA2 predictive testing.
Loubser F et al.
Clinical Genetics, 2012
CYP2D6 genotyping and use of antidepressants in breast cancer patients: test development for clinical application.
van der Merwe N et al.
Metabolic Brain Disease, 2012
A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.
van der Merwe NC et al.
Clinical Genetics, 2012
Founder mutations in BRCA1 and BRCA2 genes.
Ferla R et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2007
BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.
Reeves MD et al.
International Journal of Cancer, 2004
Genetic Testing.
Unknown Author
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 1999