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
Frequency of Founder Mutations in BRCA1 and BRCA2 Genes in Hereditary Breast Cancers in Poland vs. Other Countries.
Kulikowska B et al.
Cancers, 2026
Functional evaluation and clinical classification of BRCA2 variants.
Huang H et al.
Nature, 2025
39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Human BRCA pathogenic variants were originated during recent human history.
Li J et al.
Life Science Alliance, 2022
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
Lavoro A et al.
International Journal of Oncology, 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
Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.
Yoshida R
Breast Cancer (tokyo, Japan), 2021
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
Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients.
Nurmi A et al.
International Journal of Cancer, 2019
30927251 (PubMed )
Supplement: IJC-145-2692-s001.pdf
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR et al.
Human Mutation, 2018
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
Janavičius R
The Epma Journal, 2010
Two founder BRCA2 mutations predispose to breast cancer in young women.
Infante M et al.
Breast Cancer Research and Treatment, 2010
A low proportion of BRCA2 mutations in Finnish breast cancer families.
Vehmanen P et al.
American Journal of Human Genetics, 1997
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