SYNDROME |
CLINICAL
MANIFESTATIONS |
GENE (% of hereditary cases) |
Breast-Ovarian Cancer
Syndrome |
Breast cancer
Ovarian cancer
Colon cancer
Prostate cancer |
BRCA-1 (~45%)
BRCA-2 (~40%) |
Hereditary Non-Polyposis Colon
Cancer (HNPCC)
aka Lynch syndrome |
3 colon cancers, 2 generations
Endometrial cancer
Stomach cancer
Ovarian & other cancers |
MSH2 (60% ?)
MLH1 (35% ?)
MSH6 (?)
PMS1
PMS2 |
Familial Adenomatous
Polyposis (FAP) |
Multiple colon polyps (10-100+)
Colon cancer
Desmoid tumors |
APC |
| MYH – associated Polyposis (MAP) |
Multiple polyps (10-100)
Colon cancer
|
MYH |
| Melanoma (Hereditary) |
Melanoma
Pancreatic cancer |
p16 (~ 50%) |
Multiple Endocrine Neoplasia
(MEN) 2a & 2b;
Familial Medullary Thyroid Ca |
Medullary thyroid cancer
Parathyroid hyperplasia
Pheochromocytoma |
RET |
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