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Terms in this set (33)
What is the main feature of Familial Adenomatous Polyposis (FAP)?
10s-1000s of adenomas in rectum and colon during second decade
If untreated, what % of individuals with FAP will develop CRC?
What are symptoms of polyps/adenomas?
rectal bleeding, anemia, constipation, diarrhea, abdom pain, abdom masses, wt loss
When and where do polyps begin to develop?
during childhood, mostly in distal colon (rectosigmoid)
What % of ppl with FAP develop polyps by 15? by 35?
50% by 15
95% by 35
What are the other GI manifestations of FAP?
Fundic gland polyps in stomach (90%), adenomatous polyps in duodenum (90%), jejunal polyps (30-75%)
What are the extraintestinal manifestations of FAP?
cutaneous lesions, osteomas, dental abnormalities, CHRPE, desmoid tumors, thyroid, hepatoblastoma, pancreatic adenocarcinomas
What is CHRPE?
Congenital hypertrophy of retinal pigment epithelium = patch of discoloration in ocular fundus (not specific for FAP)
What are the Variants of FAP?
Attenuated FAP (AFAP)
What are the features of AFAP?
fewer colorectal polyps (10-100), later adenomas (44y), later cancer (56y), usually more rt-sided
What are the features of Gardner Syndrome?
FAP with prominent extra-colonic features; skull and mandible osteomas, dental abnorm, fibromas on upper body
What are the features of Turcot syndrome?
FAP plus medulloblastoma brain tumor (or glioblastomas)
What gene causes FAP and what type of gene is it?
Tumor Suppressor gene
How many different mutations result in FAP?
highly heterogeneous, most common=10%, next=5%;
more than 60% in Mutation Cluster Region (MCR)
What types of mutations are most common in FAP?
small deletions (46%), nonsense (28%), gross alterations (13%), small insertions (10%), missense (3%)
Are there any correlations between ethnic groups and FAP?
Yes, I1307K mutation in 7% of AJ (2-fold inc risk in CRC)
What are the cancer risks associated with FAP/AFAP?
CRC (100%), duodenal/periampullary (5-12%), thyr, panc, childhood hepatoblastoma, stomach, CNS (all less than 2%)
How is FAP usually diagnosed?
either by clinical findings or genetic test (multiple polyps usually evident and indicative of dx)
What % of FAP cases are de novo?
How is AFAP usually diagnosed?
more complex bc wide pheno variation, total colonosc advocated because of rt side distr, chromoendoscopy used
What is the incidence of FAP in the gen pop?
What % of CRC does FAP account for?
less than 1%
How much does comprehensive testing COLARIS AP cost? what does it include?
$1920 (full seq and large rearrang analysis of APC, mut panel of MYH)
How much does COLARIS AP single site testing cost?
What is the detection rate of APC testing for FAP and AFAP?
70-80% for FAP
less than 60% for AFAP
What is MAP?
What are the clinical features of MAP?
10-100 adenomatous polyps/adenomas of colon and rectum
What type of inheritance does MAP follow?
(can be homozy or compound heterozy)
What gene is responsible for MAP? What type of gene is it?
MUTYH (formerly MYH) - 1q32-34; base-excision repair gene
What are the cancer risks associated with MAP?
60-70% colon (avg dx 47y)
24% in rectum
16% in upper GI
What is the carrier freq of MUTYH mutations? the incidence of aff individuals?
1-2% carr freq; 1 in 10-40,000 births
What Myriad Testing do they get?
COLARIS AP (APC analysis and MYH Panel) OR
How much does MYH Testing cost?
$1250 for sequen
$375 for 2 mut panel
$1050 reflex sequen
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