A tiny change in a single gene made us much more susceptible to breast cancer

Embargoed until: Publicly released: 2022-05-04 01:00

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Since humans and chimpanzees evolved apart, a single DNA 'letter' change in the human BRCA2 gene, known to be linked to breast cancer, reduced its ability to fix damaged DNA, according to US scientists. This single substitution, which the scientists found by comparing the DNA of chimps and 11 other primates with our own, triggered a 20 per cent reduction in the gene's ability to repair DNA, which is part of the body's arsenal for fighting cancers. In addition to the change in BRCA2, the team identified another 395 human-specific DNA changes in genes linked to cancers that have emerged during our evolution.

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Journal/
conference: Cell Reports

Research:Paper

Organisation/s: Memorial Sloan Kettering Cancer Center, USA

Funder: This work was supported by NIH grants R01 CA179991 and R35 CA220508 and funding from the MSK Functional Genomics Initiative (C.A.I.-D.), NCI Cancer Center support grant P30 CA08748 to MSKCC, Cycle for Survival, and The Kleberg Foundation.

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