Neoplasia 1: Inherited Cancer Syndromes: Autosomal Dominant, Autosomal Recessive (AR), and Familial Flashcards
1
Q
Rb gene
A
Retinoblastoma
2
Q
p53
A
Li-Fraumeni syndrome (various tumors) - elderly
3
Q
p16/INK4A
A
Melanoma
4
Q
APC
A
Familial adenomatous polyposis/colon cancer (By second decade)
5
Q
BRCA1, BRCA2
A
Breast and ovarian tumors
6
Q
MEN 1, RET
A
Multiple Endocrine Neoplasia 1 and 2
7
Q
MSH2, MLH1, MSH6
A
Hereditary Nonpolyposis Colon Cancer (HNPCC)
8
Q
PTCH
A
Nevoid Basal Cell Carcinoma Syndrome
9
Q
PTEN
A
Cowden Syndrome (epithelial cancers)
10
Q
LKB1
A
Peutz-Jegher Syndrome (epithelial cancers)
Hamartoma!
11
Q
VHL
A
Renal Cell Carcinomas
12
Q
ATM, ATR gene
A
Ataxia Telangiectasia (AR)
13
Q
Bloom’s Syndrome (AR)
A
Lymphoma and Leukemia
14
Q
Fanconi’s Anemia (AR)
A
Lymphoma and leukemia
15
Q
Xeroderma Pigmentosum (AR)
A
Skin cancers