Genomic coordinate (human 13:32,315,077 BRCA2).
Cytoband (human 13q13.1 BRCA2).
BRCA2 is a “nucleic acid binding protein” PANTHER = PC00171.
ClinVar = 17,000 BRCA2 variants reported, with 5,000 variants of uncertaint significance.
OMIM’ genes @ 13q13.1 = 8 genes.
Intraband %= 39.7% BRCA2
Swallowtail chromosome-13 is 308 genes.
Cytoband Position (0.4 = human 13q13.1).
Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2
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Here I present: “BRCA2-pleiotropy on 13q13.1“, Victor McKusick, Mendelian Inheritance in Man’, 1966 (BRCA2).
INTRODUCTION.
BRCA2 pleiotropy describes how the BRCA2 gene influences multiple unrelated biological traits, connecting its primary DNA repair role to both cancer susceptibility and evolutionary trade-offs in fertility.
Core DNA Repair and Cancer Risks.
Tumor Suppression: BRCA2 helps mediate homologous recombination to repair broken DNA strands and maintain genome stability.
Multiple Cancers: Faulty variants cause pleiotropic effects by increasing the lifetime risk for breast, ovarian, prostate, and pancreatic cancers.
Antagonistic Pleiotropy and Fertility.
Evolutionary Trade-offs: Researchers categorize BRCA genes under antagonistic pleiotropy, where deleterious late-life effects are balanced by early-life fitness advantages.
Reproductive Benefits: Historical data from natural fertility populations indicate that carriers may exhibit higher reproductive success or increased numbers of children, which helped preserve these variants across generations.
