GiM cancer syndromes Flashcards
(25 cards)
Cowden syndrome
PTEN gene
breast, endometrial, thyroid, renal
Gorlin syndrome
PTCH gene
skin basal cell carcinoma
medulloblastoma
Peutz Jeghers syndrome
STK11 gene
GI tract, breast
Juvenile Polyposis
SMAD4 etc
GI tract
Von Hippel Lindau
VHL gene
renal, haemangioblastoma, phaeochromocytoma
MEN1 syndrome
MEN1 gene
pituitary, parathyroid, pancreas, carcinoid
MEN2 syndrome
RET gene
medullary thyroid, phaeochromocytoma
HDGC syndrome
CDH1 gene
hereditary diffuse gastric cancer
breast
Birt Hogg Dube syndrome
FLCN gene
renal
FAMMM syndrome
CDKN2A etc
melanoma, pancreas
which mutations are associated with type 1 endometrioid endometrial carcinoma
PTEN (HNPCC) KRAS
which mutation is associated with type 2 serous endometrial carcinoma
p53
which gene is linked to cervical cancer
BRCA1
which staging is used for lymphomas?
Ann Arbor staging (based on location)
what syndrome is neurofibromatosis type 1
associated with soft tissue sarcomas
–> neurofibroma
NF1 gene
what syndrome is gardner syndrome
–> fibromatosis
associated with soft tissue sarcomas
what is carney syndrome
associated with sarcomas
myxoma, melanotic schwannoma
what is turner syndrome associated wtih
sarcomas cystic hygroma (lymphatic lesion)
retinoblastoma cancer syndrome
RB1 gatekeeper gene –> retinoblastoma
Li-fraumeni syndrome
p53 gatekeeper/ caretaker –> sarcomas and breast, brain, adrenocortical, leukaemia
100%lifetme risk
familial adenomatous polyposis
APC gatekeeper gene –> colorectal cancer 95% risk
colonoscopies and total colestomy
HNPCC
hMLH1 hMLH2 caretaker genes –> colorectal cancer and endometrial, stomach, ovarian 70% lifetime risk
colonoscopic screening
AMSTERDAM CRITERIA for diagnosis (diagnosed
familial breast cancer
BRCA1 and BRCA2 caretaker genes –> breast and ovarian cancer (BRCA1 higher risk for ovarian than BRCA2)
what is the most common feature of TSG 2nd hit inactivation?
xsonal non-dysjunction –> aneuploidy for inherited mutated gene
