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
Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.
Yazaki S et al.
Ebiomedicine, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.
Osler TS et al.
Cancer Medicine, 2025
Genomic instability in non-breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.
Elze L et al.
Journal of the National Cancer Institute, 2024
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
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.
Kansuttiviwat C et al.
Npj Genomic Medicine, 2024
BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.
Richau CS et al.
Cancer Medicine, 2024
A novel cancer risk prediction score for the natural course of FA patients with biallelic BRCA2/FANCD1 mutations.
Radulovic I et al.
Human Molecular Genetics, 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
Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
Cioffi A et al.
Cancers, 2023
Genetic contribution of breast cancer genes in women of black African origin.
Ndiaye R et al.
Frontiers in Genetics, 2023
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.
Zhang Y et al.
Bmc Cancer, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Y et al.
Jama Oncology, 2022
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 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
Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.
Eygelaar D et al.
Scientific Reports, 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
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
Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
Hirotsu Y et al.
International Journal of Molecular Sciences, 2020
The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.
van der Merwe NC et al.
Bmc Cancer, 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
BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.
Friebel TM et al.
Human Mutation, 2019
Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.
Diop JPD et al.
Bmc Medical Genetics, 2019
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Arai M et al.
Journal of Human Genetics, 2018
A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.
Shailani A et al.
Medical Oncology (northwood, London, England), 2018
Genetics of breast cancer in African populations: a literature review.
Abbad A et al.
Global Health, Epidemiology and Genomics, 2018
Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.
Elimam AA et al.
Bmc Medical Genetics, 2017
Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.
Feben C et al.
Familial Cancer, 2017
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Béroud C et al.
Human Mutation, 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
A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.
Karami F et al.
Biomed Research International, 2013
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
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH et al.
Human Mutation, 2006