Bölüm 186
Kanser Geneti¤i
1342
K>s>m XV
Onkoloji
TABLO 186-1
KL
SENDROMLARI
Sendrom
Kal>t>m Tipi
Gen(ler)
KALITSAL MEME KANSER< SENDROMLARI
Herediter meme ve
over kanser sendromu
Li-Fraumeni sendromu
Cowden's sendromu
Bannayan-Riley-Ruvalcaba
sendromu
Dominant
Dominant
Dominant
Dominant
BRCA1
BRCA2
TP53
PTEN
PTEN
GEN
Kal>tsal prostat kanseri
Simpson-Golabi-Behmel
sendromu
Von Hippel-Lindau
sendromu
Beckwith-Wiedemann
sendromu
Wilm's tümör sendromu
Wilm's tümör aniridia,
anormallikler, mental
retardasyon (WAGR)
sendromu
Birt-Hogg-Dube sendromu
Papiller renal kanser
sendromu
Yap>sal (3;8)
translokasyon
Kal>tsal mesane kanseri
Kal>tsal testis kanseri
Rhabdoid yatk>nl>k
sendromu
Dominant
X-geçiflli resesif
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Sporadik
Muhtemel x-geçifli
Dominant
HPC1
HPCX
HPC2/ELAC2
PCAP
PCBC
PRCA
GPC3
VHL
CDKN1C
WT1
WT1
FLCL
MET,PRCC
TRCB
SNF5INI1
SANTRAL S
SENDROMLARI
Kal>tsal paraganglioma
Retinoblastoma
Rhabdoid yatk>nl>k
sendromu
Dominant
Dominant
Dominant
SDHD
SDHC
SDHB
RB1
SNF5IINI1
SARKOM/KEM
Multiple ekzositozlar
Leiomyoma/renal kanser
sendromu
Carney's kompleks
Werner's sendromu
Dominant
Dominant
Dominant
Resesif
EXT1
EXT2
FH
PRKAR1A
WRN
Sendrom
Kal>t>m Tipi
Gen(ler)
Wiskott-Aldrich sendrom
Yayg>n de¤iflken immün
yetmezlik
Ciddi kombine immün
yetmezlik
X-geçiflli lenfoproliferatif
sendromu
X-geçiflli resesif
Resesif
X-geçiflli resesif
Resesif
X-geçiflli resesif
WAS
IL2RG
ADA
JAK3
RAG1
RAG2
IL7R
CD45
Artemis
SH2D1A
KALITSAL GASTRO
Kal>tsal nonpoliposis kolon
kanseri
Ailesel poliposis
Kal>tsal gastrik kanseri
Juvenile poliposis
Peutz-Jeghers sendromu
Kal>tsal melanoma-
pankreatik kanser
sendromu
Kal>tsal pankreatit
Turcot's sendromu
Ailesel gastrointestinal
stromal tümör
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
MLH1
MLH2
MSH6
APC
CDH1
SMAD4/DPC4
BMPR1A
STK11
CDKN2A
PRSS1
APC
MLH1
PMS2
KIT
KANSERE YATKINLI/I OLAN GENODERMATÖZLER
Melanoma sendromlar>
Bazal hücre kanseri, Gorlin's
sendromu
Cowden's sendromu
Neurofibromatosis 1
Neurofibromatosis 2
Tuberous sclerosis
Carney's kompleks
Muir-torre sendromu
Xeroderma pigmentosum
Rothmund-Thomson
sendromu
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Dominant
Resessif
Resessif
CDKN2A
CDK4
CMM
PTCH
PTEN
NF1
NF2
TSC1
TSC2
PRKAR1A
MLH1
MSH2
XPA,B,C,D,E,F,G
POLH
RECOL4
LÖSEM
Bloom's sendromu
Fanconi's anemisi
Ataksi-telenjiektazi
Shwachman-diamond
sendromu
Nijmegen breakage
sendromu
Canale-smith sendromu
Resesif
Resesif
Resesif
Resesif
Resesif
Dominant
BLM
FANCA,B,C
FANCA,D
2
FANCE,F,G
FANCL
ATM
SBDS
NBS1
FAS
FASL