Vocab Week 12

Question 1

Immunohistochemistry for Lynch Syndrome

Answer 1

A form of tumor testing to detect the presence or absence of the MMR protein products found in Lynch Syndrome (antigen/antibody reactions)
Absence of specific MMR protein is indicative of Lynch but not diagnostic
Use for colon and endometrial

Question 2

Microsatellite instability

Answer 2

The condition of genetic hypermutability that results from impaired DNA mismatch repair

Question 3

PALB2

Answer 3

Partner and localizer of BRCA2
Functions as a tumor suppressor
Plays critical role in the homologous recombination repair through its ability to recruit BRCA2 to DNA breaks
Breast cancer susceptibility is strongly linked to mutations in this protein (also pancreatic and ovarian)

Question 4

CHEK2

Answer 4

Checkpoint kinase 2
Protein acts as tumour suppressor
Protein activated when DNA is damaged
Associated with increased risk of breast, prostate, CRC

Question 5

ATM

Answer 5

ATM serine/threonine kinase
Protein located in the nucleus that helps control the rate at which cells grow and divide
Homozygous mutations cause ataxia telegiectasia

Question 6

FAP

Answer 6

Familial Adenomatous Polyposis
Inherited disorder characterized by cancer of the large intestine and rectum
Multiple polyps develop by age 35 and are malignant by 40

Question 7

APC

Answer 7

Adenomatous Polyposis Coli
Protein acts as tumour suppressor
Mutations in the APC gene can result in FAP, desmoid tumors, turcot syndrome, medullablastoma

Question 8

MUTYH

Answer 8

MutY DNA glycosylase
Provides instructions for making MYH glycosylase which is involved in repair of DNA
Mutations in MUTYH can cause AR condition MYH-associated polyposis (milder form of FAP)

Question 9

Colonoscopy

Answer 9

Thin flexible tube with camera is inserted through anus/ rectum to look at inner lining of large intestine
Procedure reduces risk of cancer by 90%

Question 10

Endoscopy

Answer 10

Thin flexible tube with a camera is inserted through the mouth and esophagus to look at the stomach

Question 11

Sigmoidoscopy

Answer 11

Procedure used to see inside of sigmoid colon and rectum

Question 12

Hyperplastic polyp

Answer 12

Benign and are not a cause for concern

Question 13

Adenomatous polyp

Answer 13

Are benign growths in the colon but may be precursor lesions to colorectal cancer
Can be tubular or villous

Question 14

Sessile polyp

Answer 14

Broad-based polypoid lesion without a clear stalk
Mostly a flat growth
May turn into cancer

Question 15

P53

Answer 15

Tumour protein 53
Tumour suppressor
When DNA becomes damaged it helps determine if DNA will be repaired or if cell with undergo apoptosis
Germline mutations implicated in LFS

Question 16

CA-125

Answer 16

Cancer antigen-125
Test measures amount of CA 125 in blood and is used to monitor certain cancers during/after treatment
Sometimes increased CA125 shows risk of ovarian cancer
Normal value: 0-35

Question 17

Transvaginal ultrasound

Answer 17

Type of pelvic ultrasound used by doctors to examine female reproductive organs

Question 18

Lynch Syndrome

Answer 18

Autosomal dominant disorder that increases the risk for certain types of cancers: colon, stomach, endometrial, ovarian and others