ArticleProceedings of the National Academy of Sciences of the United States of America2003
Understanding missense mutations in the BRCA1 gene: an evolutionary approach.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 129 citations in OpenAlex.
- Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.American journal of human genetics · 2026Article
- Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.Genes & diseases · 2026Review
- Functional characterization of BRCA1 variants of unknown significance using homologous recombination repair assays.Breast cancer research : BCR · 2025Article
- Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.Frontiers in genetics · 2024Article
- An efficient qPCR assay for the quantification of human cells in preclinical animal models by targeting human specific DNA in the intron of BRCA1.Molecular biology reports · 2023Article
- A global perspective on the ethnic-specificJournal of the National Cancer Center · 2023Review
- HumanLife science alliance · 2022Article
- DNA damage repair system in C57BL/6 J mice is evolutionarily stable.BMC genomics · 2021Article
- Article
- A Phylogenetic Approach to Analyze the Conservativeness of BRCA1 and BRCA2 Mutations.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2020Article
- Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.International journal of cancer · 2019Article
- Article
- Epidemiology of Patients with Ovarian Cancer with and Without a BRCA1/2 Mutation.Molecular diagnosis & therapy · 2015Review
- Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.International journal of molecular medicine · 2014Article
- PARP1-driven poly-ADP-ribosylation regulates BRCA1 function in homologous recombination-mediated DNA repair.Cancer discovery · 2014Article
- Rapid evolution of BRCA1 and BRCA2 in humans and other primates.BMC evolutionary biology · 2014Article
- The impact of natural selection on health and disease: uses of the population genetics approach in humans.Evolutionary applications · 2013Article
- Article
- Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.PloS one · 2013Article
- Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.International journal of oncology · 2012Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The role of missense changes in BRCA1 in breast cancer susceptibility has been difficult to establish. We used comparative evolutionary methods to identify potential functionally important amino acid sites in exon 11 and missense changes likely to disrupt gene function, aligning sequences from 57 eutherian mammals and categorizing amino acid sites by degree of conservation. We used Bayesian phylogenetic analyses to determine relationships among orthologs and identify codons evolving under positive selection. Most conserved residues occur in a region with the highest concentration of protein-interacting domains. Rapidly evolving residues are concentrated in the RAD51-interacting domain, suggesting that selection is acting most strongly on the role of BRCA1 in DNA repair. Investigation of the functional role of missense changes in breast-cancer susceptibility should focus on 38 missense changes in conserved and 3 in rapidly evolving regions of exon 11.
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