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Cancer Predisp.
MGM Exam 2
Disease | Description |
---|---|
Hereditary Non-polyposis Colon Cancer | defect in mismatch repair genes: hMSH2 |
Xeroderma Pigmentosum | photosensitivity and early cancers defect in NER genes: XPA-->XPG |
XPV | photosensitivity and early cancers defect in polmerase eta |
Li-Fraumeni | increase in cancer susceptibility defect in p53 |
Tricothiodystrophy | photosensitivity and premature senility defect in repair and transcription gene: XPD |
Bloom's syndrome | photosensitivity and growth arrest defect in DNA helicase gene: BLM |
Familial breast cancer | defect in ds-break repair gene: BRCA1 |