Genes Flashcards
BRCA1
Cancers of the breast, ovary, colon, prostate
BRCA2
Cancers of the breast, ovary, colon, prostate, gallbladder/biliary tree, pancreas, stomach; melanoma
PTEN
-Cowden syndrome: autosomal dominant germline mutation of PTEN- tumor suppressor gene; breast cancer most common associated malignancy
-Also cancers of endometrium and thyroid
APC
Familial adenomatous polyposis
Colorectal carcinoma, duodenal and gastric neoplasms, medulloblastomas, osteomas
p16, CDK4
Familial melanoma
Melanoma, pancreatic cancer, dysplastic nevi, atypical moles
CDH1
Hereditary diffuse gastric cancer
hMLH1, hMSH2, hMSH6, hPMS1, hPMS2
Hereditary non-polyposis colorectal cancer
Colorectal cancer, endometrial cancer, transitional cell carcinoma of the ureter and renal pelvis; carcinomas of the stomach, small bowel, pancreas, ovary
p53, hCHK2
Li-Fraumeni
-Li-Fraumeni syndrome: germline mutation in TP53 tumor suppressor gene; autosomal dominant
-Proband: diagnosed w sarcoma before 45; 1st degree relative w any cancer before 45; another 1st or 2nd degree relative w sarcoma any age or another cancer before 45
Breast cancer, soft tissue sarcoma, osteosarcoma, brain tumors, adrenocortical carcinoma, Wilms tumor, phyllodes tumor (breast), pancreatic cancer, leukemia, neuroblastoma
MEN1
Multiple endocrine neoplasia type 1
Pituitary adenomas, parathyroid hyperplasia, pancreatic islet cell tumors
RET
Multiple endocrine neoplasia type 2 RET
Medullary thyroid cancer, pheochromocytoma, parathyroid hyperplasia
NF1
Neurofibromatosis type 1
Neurofibromas, neurofibrosarcoma, acute myelogenous leukemia, brain tumors
NF2
Neurofibromatosis type 2
Acoustic neuromas, meningiomas, gliomas, ependymomas
STK11
Peutz-Jeghers Syndrome
GI carcinomas, breast cancer, testicular cancer, pancreatic cancer, benign pigmentation of the skin and mucosa
RB
Retinoblastoma, sarcomas, melanoma, malignant neoplasms of brain & meninges
VHL
Von Hippel-Lindau Syndrome
Renal cell carcinoma, hemangioblastomas of the retina & CNS, pheochromocytoma
