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27 Cards in this Set

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T/F BRCA genes are high penetrance
TRUE
T/F BRCA gene mutation are generally the same for all people
False, they are unique in families or in the Ashkenazi Jewish population… otherwise they are all different
T/F: BRCA related cancer are always inherited.
False, some sporadic cancers are BRCA gene mutations
With respect to the BRCA gene itself, what confers greater ovarian cancer risk?
the location of the mutation
Place the likelihood of the association with estrogen receptors: BRCA1, BRCA2, and sporadic
BRCA2 > Sporadic > BRCA1
T/F: BRCA ovarian cancer has a better prognosis when compared to sporadic
TRUE
T/F: Histologically speaking, BRCA breast cancers are NOT different from sporadic breast cancers.
True: invasive ductal carcinomas
None
Are BRCA breast cancer tumors high or low grade?
high
What is the prognosis for Ashkenazi Jew with BRCA related breast cancer?
same as general public BRCA
Where are Ashkenazi women likely to have extensive node involvement?
axillary
Are Ajs more or less likely to have younger onset?
younger… especially those born after 1940
If there is no family history of breast or ovarian cancer, should an Ashkenazi women diagnosed with breast cancer be screened for BRCA?
yes
None
In what cancer is the Wnt pathway seen?
CRC
In the Wnt pathway, which genes are TS and which are pro-onco?
Pro-onco: ß-catinin, TCF4… TS: APC, PTEN
What does PTEN do?
it inhibits ß-catinin
What percentage of CRC is sporadic?
80%
In which CRC is prophylactic surgery suggested?
FAP
What is the recommed surveillance for sporadic CRC?
After 50: colonoscopy/10 yes… sigmoidoscopy/5 yr… check for blood in feces/ 1 year
None
In which inheritable CRC is male penetrance higher?
HNPCC
Which CRC is determined by the MSI?
HNPCC
Which CRC has 100s of polyps?
FAP
Which CRC is determined by the APC truncation test?
FAP
What is the age of onset for FAP?
~39
What is the age of onset for HNPCC?
~44
What is the gene mutation in HNPCC?
MSH2 and MSH6, MLH1
Which CRC do you see MSI?
HNPCC
What causes the MSI?
mutations in mismatch