DNA Repair & Gene Defects: Associated Diseases

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Last updated 2:00 PM on 7/31/26
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4 Terms

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Nucleotide excision repair (NER) defect

Xeroderma pigmentosum — cannot repair UV-induced thymine dimers

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Mismatch repair (MMR) defect

Lynch syndrome — increased risk of colorectal and endometrial cancers

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V(D)J recombination / nonhomologous end joining defect

Severe combined immunodeficiency (SCID) — failure to properly form B-cell and T-cell receptors

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RB1 tumor suppressor gene defect

Retinoblastoma — childhood eye cancer; this is a cell-cycle regulation defect, not a DNA repair pathway defect