Table 79-1 Cancer Predisposition Syndromes and Associated Genes
|
Syndrome
|
Gene
|
Chromosome
|
Inheritance
|
Tumors
|
ataxia telangiectasia
|
ATM
|
11q22-q23
|
AR
|
breast cancer
|
autoimmune lymphoproliferative syndrome
|
FAS
|
10q24
|
AD
|
lymphomas
|
FASL
|
1q23
|
|
Bloom syndrome
|
BLM
|
15q26.1
|
AR
|
cancer of all types
|
Cowden syndrome
|
PTEN
|
10q23
|
AD
|
breast, thyroid
|
familial adenomatous polyposis
|
APC
|
5q21
|
AD
|
intestinal adenoma, colorectal cancer
|
familial melanoma
|
p16INK4
|
9p21
|
AD
|
melanoma, pancreatic cancer
|
familial Wilms tumor
|
WT1
|
11p13
|
AD
|
pediatric kidney cancer
|
hereditary breast/ovarian cancer
|
BRCA1
|
17q21
|
AD
|
breast, ovarian, colon, prostate
|
BRCA2
|
13q12.3
|
|
hereditary diffuse gastric cancer
|
CDH1
|
16q22
|
AD
|
stomach cancers
|
hereditary multiple exostoses
|
EXT1
|
8q24
|
AD
|
exostoses, chondrosarcoma
|
EXT2
|
11p11-12
|
|
hereditary prostate cancer
|
HPC1
|
1q24-25
|
AD
|
prostate carcinoma
|
hereditary retinoblastoma
|
RB1
|
13q14.2
|
AD
|
retinoblastoma, osteosarcoma
|
hereditary nonpolyposis colon cancer (HNPCC)
|
MSH2
|
2p16
|
AD
|
colon, endometrial, ovarian, stomach, small bowel, ureter carcinoma
|
MLH1
|
3p21.3
|
|
MSH6
|
2p16
|
|
PMS2
|
7p22
|
|
hereditary papillary renal carcinoma
|
MET
|
7q31
|
AD
|
papillary renal tumor
|
juvenile polyposis
|
SMAD4
|
18q21
|
AD
|
gastrointestinal, pancreatic cancers
|
Li-Fraumeni
|
TP53
|
17p13.1
|
AD
|
sarcoma, breast cancer
|
multiple endocrine neoplasia type 1
|
MEN1
|
11q13
|
AD
|
parathyroid, endocrine, pancreas, and pituitary
|
multiple endocrine neoplasia type 2a
|
RET
|
10q11.2
|
AD
|
medullary thyroid carcinoma, pheochromocytoma
|
neurofibromatosis type 1
|
NF1
|
17q11.2
|
AD
|
neurofibroma, neurofibrosarcoma, brain tumor
|
neurofibromatosis type 2
|
NF2
|
22q12.2
|
AD
|
vestibular schwannoma, meningioma, spine
|
nevoid basal cell carcinoma syndrome (Gorlin's syndrome)
|
PTCH
|
9q22.3
|
AD
|
basal cell carcinoma, medulloblastoma, jaw cysts
|
tuberous sclerosis
|
TSC1
|
9q34
|
AD
|
angiofibroma, renal angiomyolipoma
|
TSC2
|
16p13.3
|
|
von Hippel–Lindau
|
VHL
|
3p25-26
|
AD
|
kidney, cerebellum, pheochromocytoma
|