A. Autosomal Dominant Conditions |
BRCA-1 | Mutation of Chr. 17q | Malignancies of Breast, Ovary, Prostate, Colon |
BRCA-2 | Mutation of Chr. 13q | Malignancies of Breast (including male), Ovary, Prostate, Pancreas, Larynx |
Li-Fraumeni Syndrome | Mutation in Chr. 17p (p53 gene) | Malignancies of Breast, Brain, Adrenals, Soft tissue sarcomas |
Muir-Torre Syndrome | Mutation in Chr. 2p (Mismatch repair genes hMLH1, hMSH2) | Malignancies of Breast, GI and Genitourinary Tract, Sebaceous tumors, Keratoacanthoma |
Cowden Disease | Mutation in Chr. 10q (PTEN gene) | Malignancies of Breast, Bladder, Colon, Uterus, Thyroid, Lung, Hamartomatous polyps in GIT |
Peutz-Jeghers Sydrome | Mutation in Chr. 19p (STK11 gene) | Malignancies of Breast, Pancreas, Hamartomas in GIT, Mucocutaneous melanin deposition |
B. Autosomal Recessive Conditions |
Ataxia telangiectasia | | |