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Major Hereditary Cancer Syndromes
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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