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Cancer mutations > GiM cancer syndromes > Flashcards

GiM cancer syndromes Flashcards

1
Q

Cowden syndrome

A

PTEN gene

breast, endometrial, thyroid, renal

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2
Q

Gorlin syndrome

A

PTCH gene
skin basal cell carcinoma
medulloblastoma

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3
Q

Peutz Jeghers syndrome

A

STK11 gene

GI tract, breast

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4
Q

Juvenile Polyposis

A

SMAD4 etc

GI tract

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5
Q

Von Hippel Lindau

A

VHL gene

renal, haemangioblastoma, phaeochromocytoma

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6
Q

MEN1 syndrome

A

MEN1 gene

pituitary, parathyroid, pancreas, carcinoid

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7
Q

MEN2 syndrome

A

RET gene

medullary thyroid, phaeochromocytoma

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8
Q

HDGC syndrome

A

CDH1 gene
hereditary diffuse gastric cancer
breast

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9
Q

Birt Hogg Dube syndrome

A

FLCN gene

renal

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10
Q

FAMMM syndrome

A

CDKN2A etc

melanoma, pancreas

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11
Q

which mutations are associated with type 1 endometrioid endometrial carcinoma

A

PTEN (HNPCC) KRAS

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12
Q

which mutation is associated with type 2 serous endometrial carcinoma

A

p53

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13
Q

which gene is linked to cervical cancer

A

BRCA1

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14
Q

which staging is used for lymphomas?

A

Ann Arbor staging (based on location)

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15
Q

what syndrome is neurofibromatosis type 1

A

associated with soft tissue sarcomas
–> neurofibroma
NF1 gene

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16
Q

what syndrome is gardner syndrome

A

–> fibromatosis

associated with soft tissue sarcomas

17
Q

what is carney syndrome

A

associated with sarcomas

myxoma, melanotic schwannoma

18
Q

what is turner syndrome associated wtih

A 
sarcomas
cystic hygroma (lymphatic lesion)
19
Q

retinoblastoma cancer syndrome

A

RB1 gatekeeper gene –> retinoblastoma

20
Q

Li-fraumeni syndrome

A

p53 gatekeeper/ caretaker –> sarcomas and breast, brain, adrenocortical, leukaemia
100%lifetme risk

21
Q

familial adenomatous polyposis

A

APC gatekeeper gene –> colorectal cancer 95% risk

colonoscopies and total colestomy

22
Q

HNPCC

A

hMLH1 hMLH2 caretaker genes –> colorectal cancer and endometrial, stomach, ovarian 70% lifetime risk
colonoscopic screening
AMSTERDAM CRITERIA for diagnosis (diagnosed

23
Q

familial breast cancer

A

BRCA1 and BRCA2 caretaker genes –> breast and ovarian cancer (BRCA1 higher risk for ovarian than BRCA2)

24
Q

what is the most common feature of TSG 2nd hit inactivation?

A

xsonal non-dysjunction –> aneuploidy for inherited mutated gene

25
Q

what is the most common TSG inactivation event?

A

aberrant methylation of gene promotors –> epigenetic inactivation of TSG

Cancer mutations (1 decks)

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