Hereditary Cancer Syndromes

Chromoso
Cloned
Syndrome Function mal Tumor Types
Gene
Location

brain tumors,
cell cycle
Li-Fraumeni P53 = tumor sarcomas,
regulation, 17p13
Syndrome suppressor leukemia,
apoptosis
breast cancer

Familial retinoblastoma,
RB1 = tumor cell cycle
Retinoblasto 13q14 osteogenic
suppressor regulation
ma sarcoma

WT1 = tumor transcription pediatric kidney

Wilms Tumor 11p13
suppressor al regulation cancer

NF1 = tumor
suppressor catalysis of neurofibromas,
Neurofibroma
protein = RAS 17q11.2 sarcomas,
tosis Type 1
neurofibromi inactivation gliomas
n1

NF2 = tumor
suppressor linkage of Schwann cell
Neurofibroma
protein = cell tumors,
tosis Type 2
merlin, also membrane 22q12.2 astrocytomas,
called to meningiomas,
GeneReviews
neurofibromi cytoskeleton ependynomas
n2

signaling
Familial through
APC = tumor
Adenomatous adhesion 5q21 colon cancer
suppressor
Polyposis molecules to
nucleus

Tuberous TSC1= forms 9q34 seizures,

sclerosis 1 tumor complex with mental
 TSC2
protein,
suppressor inhibits retardation,
protein = signaling to facial
GeneReviews
hamartin downstream angiofibromas
effectors of
mTOR

benign growths
TSC2 =
Tuberous (hamartomas)
tumor
sclerosis 2 see TSC1 in many tissues,
suppressor 16p13.3
above astrocytomas,
protein =
GeneReviews rhabdomyosarc
tuberin
omas

Deleted in DPC4 =
regulation of
Pancreatic tumor pancreatic
TGF-β/BMP
Carcinoma 4 suppressor 18q21.1 carcinoma,
signal
also known colon cancer
transduction
GeneReviews as SMAD4

transmembr
ane receptor
Deleted in
DCC = tumor involved in colorectal
Colorectal 18q21.3
suppressor axonal cancer
Carcinoma
guidance via
netrins

Familial BRCA1 = functions in 17q21 breast and

Breast tumor transcription, ovarian cancer
Cancer suppressor DNA
binding,
GeneReviews transcription
coupled
DNA repair,
homologous
recombinatio
n,
chromosoma
l stability,
ubiquitinatio
n of proteins,
and
centrosome
 replication

transcription
BRCA2 = al regulation
Familial tumor of genes
Breast suppressor: involved in
breast and
Cancer same as the DNA repair 13q12.3
ovarian cancer
FANCD1 and
GeneReviews locus (see homologous
below) recombinatio
n

phosphorylat
es and
STK11 = activates
tumor AMP-
hyperpigmentati
Peutz- suppressor activated
on, multiple
Jeghers protein = kinase
hamartomatous
Syndrome serine- (AMPK),
19p13.3 polyps,
(PJS) threonine AMPK
colorectal,
kinase 11 involved in
breast and
GeneReviews was also stress
ovarian cancers
known as responses,
LKB1 lipid and
glucose
meatabolism

Hereditary
Nonpolyposis
Colorectal
Cancer type
MSH2 = DNA
1: HNPCC1; colorectal
tumor mismatch 2p22-p21
also known cancer
suppressor repair
as Lynch
Syndrome

GeneReviews

Hereditary MLH1 = DNA 3p21.3 colorectal

Nonpolyposis tumor mismatch cancer
Colorectal suppressor repair
Cancer type
2: HNPCC2
GeneReviews

renal cancers,
von Hippel- regulation of hemangioblasto
VHL = tumor
Lindau transcription 3p26-p25 mas,
suppressor
Syndrome elongation pheochromocyt
oma

CDKN2A =
p16INK4
tumor
inhibits cell-
suppressor:
cycle
protein =
kinases
cyclin-
Familial CDK4 and
dependent melanoma,
Melanoma CDK6;
kinase 9p21 pancreatic
p14ARF
inhibitor 2A cancer, others
OMIM data binds the
gene
p53
produces 2
stabilizing
proteins:
protein
p16INK4 and
MDM2
p14ARF

transmembr
ane receptor
Gorlin
for sonic
Syndrome:
hedgehog
Nevoid basal PTCH =
(shh),
cell tumor
involved in basal cell skin
carcinoma suppressor 9q22.3
early cancer
syndrome protein =
development
(NBCCS) patched
through
repression of
GeneReviews
action of
smoothened

Multiple
parathyroid and
Endocrine intrastrand
MEN1 = pituitary
Neoplasia DNA
tumor 11q13 adenomas, islet
Type 1 crosslink
suppressor cell tumors,
repair
carcinoid
GeneReviews

Multiple MEN2, also transmembr 10q11.2 medullary

 ane receptor
known as
Endocrine tyrosine thyroid cancer,
RET
Neoplasia kinase for type 2A
(meaning
Type 2 glial-derived pheochromocyt
rearranged
neurotrophic oma, mucosal
during
GeneReviews factor hartoma
transfection)
(GDNF)

BWS caused
by changes
in a 1
megabase
genomic
region that CDKN1C is
imprinting
encompasse a cyclin-
Beckwith- disorder
s at least 15 dependent
Wiedemann resulting in
genes: kinase 11p15.5
Syndrome Wilms tumor,
CDKN1C inhibitor, cell
(BWS) adrenocortical
(also called cycle
cancer,
p57KIP2) is regulator
hepatoblastoma
likely
responsible
for the
cancers

Hereditary transmembr
papillary renal ane receptor
cancer for renal papillary
MET 7q31
(HPRC) hepatocyte cancer
growth factor
OMIM data (HGF)

phosphoinos
PTEN =
itide 3- breast cancer,
Cowden phosphatase
phosphatase thyroid cancer,
syndrome and tensin
, 10q23.3 head and neck
homolog, is
protein squamous
GeneReviews a tumor
tyrosine carcinomas
suppressor
phosphatase

Hereditary HPC1 and RNaseL 1q24-q25 prostate cancer

prostate PRCA1 are involved in
cancer, same mRNA
numerous designation, degradation
loci: ribonuclease
HPC1(PRCA
1), HPCX,
L (RNaseL)
MXI1, KAI1,
maps to this
PCAP
locus
OMIM data

ATM: 4
complement
ation groups:
gene
ATA, ATC, lymphoma,
product
Ataxia ATD, ATE, cerebellar
encodes a
telangiectasia are 11q22.3 ataxia,
kinase, one
(AT) associated immunodeficien
substrate is
with cy
p53
mutations in
the ATM
gene

Bloom DNA
solid tumors,
syndrome helicase
BLM 15q26.1 immunodeficien
RecQ
cy
OMIM data protein-like-3

XPA =
9q22.3
Xeroderma DNA repair XPC = 3p25
XPA, B, C,
pigmentosum helicases, XPD=19q13.
D, E, F, G,
(XP), 8 nucleotide 2–q13.3 skin cancer
and variant
complentation excision XPE=11p12
XP (XPV)
groups repair –p11
XPF=16p13.
3–p13.13

Fanconi FANCA, B, components FANCA=16q acute myeloid

anemia, 13 C, D1, D2, of DNA 24.3 leukemia
complementa E, F, G, I, J, repair FANCC=9q2 (AML),
tion groups L, M, N machinery 2.3 pancytopenia,
FANCD2=3p chromosomal
GeneReviews FANCA, C, 25.3 instability
E, F, G, and FANCE=11p
L form 15
nuclear
multiprotein
complex

FANCD1 =
BRCA2
FANCN =
PALB2
which is a
nuclear
binding
partner for
BRCA2