Hereditary Cancer Syndromes Flashcards Preview

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Flashcards in Hereditary Cancer Syndromes Deck (18):
1

MYC

Burkitt lymphoma, lung and breast cancer

2

BRAF

melanoma

3

GLI1

basal cell carcinoma

4

K-RAS

melanoma

5

N-MYC

neuroblastoma

6

ABL

chronic myeloid leukemia

7

Series of Events in Colon Cancer

1. Loss/mutation of APC gene
2. DNA hypomethylation activates KRAS oncogene
3. LOH @ 18q with loss of SMAD4
4. final loss or mutation of p53

8

Retinoblastoma

Rb gene on Chromosome 13 is tumor supppressor
Rb gene inhibits proliferation, differentiation, apoptosis
Rb is LOST

9

Von Hippel Lindau

autosomal dominant, spectrum of tumors
hemangioblastomas - brain, SC, retina
renal cysts & clear cell renal carcinoma; pheochromocytoma
endolymphatic sac tumors
mTOR key facilitator of tumor genesis, signal to control it knocked out in VHL

10

HNPCC

5%
autosomal dominant, 80% penetrance
multiple primary tumors
heterogenity- different genes mutated
proximal colon tumor site; extracolonic
DNA Testing: MSI- microsatellite instability; nuc repeats in normal tissue vs. tumor tissue; compare

11

FAP 1%

mutations in APC gene (tumor suppressor)
truncation of protein
hotspot at codon 1309
autosomal dominant

12

Hereditary Breast/Ovarian

BRCA 1 or 2
private mutations specific to family
BRCA 1 Mut: 65%
BRCA 2 Mut: 45%

13

Li-Fraumeni

spectrum of tumors: breast, brain, acute leukemia, soft tissue and bone sarcomas
1. Proband diagnosed with sarcoma at age less than 45
2. Primary relative any cancer less than 45 or sarcoma at any age
p53 = 85-90%
CHK2 = more breast

14

Cri Du Chat

deletion in 5p15.2

15

Point Mutation Examples

PTEN (ovarian)
Src

16

Amplification Examples

cMYC-max
Her2
N-myc

17

Traslocation examples

Burkitt's t8:14
IgH and & MYC

18

CML

uncontrolled receptor tyrosine kinase, use Gleevec. fuses BCR and Abi