CGC Cancer Genetics & Hereditary Syndromes

Question 1

Which hereditary syndrome is associated with pathogenic variants in the BRCA1 and BRCA2 genes?

Accepted Answer

Hereditary breast and ovarian cancer (HBOC) syndrome

Answer

Lynch syndrome

Answer

Li-Fraumeni syndrome

Answer

Cowden syndrome

Question 2

Lynch syndrome is caused by pathogenic variants in which set of genes?

Accepted Answer

MLH1, MSH2, MSH6, PMS2, EPCAM

Answer

BRCA1, BRCA2, PALB2

Answer

APC, MUTYH, NTHL1

Answer

TP53, CHEK2, ATM

Question 3

A patient has a personal history of colorectal cancer at age 38 with MSI-high tumor testing. This MOST likely suggests:

Accepted Answer

Lynch syndrome

Answer

Familial adenomatous polyposis (FAP)

Answer

MUTYH-associated polyposis (MAP)

Answer

Serrated polyposis syndrome

Question 4

The Amsterdam II criteria are used to identify families at high risk for:

Accepted Answer

Lynch syndrome

Answer

HBOC syndrome

Answer

Li-Fraumeni syndrome

Answer

Familial adenomatous polyposis

Question 5

A patient with Li-Fraumeni syndrome carries a germline TP53 pathogenic variant. Which of the following cancer surveillance recommendations is MOST appropriate?

Accepted Answer

Whole-body MRI annually, with brain MRI and breast MRI included

Answer

Annual mammography starting at age 40 only

Answer

Colonoscopy every 3 years starting at age 25

Answer

No surveillance needed until symptoms arise

Question 6

Which of the following is a characteristic feature of hereditary diffuse gastric cancer (HDGC) syndrome?

Accepted Answer

Germline CDH1 pathogenic variants and lobular breast cancer risk

Answer

Pathogenic variants in SMAD4

Answer

Multiple colonic polyps

Answer

Hamartomatous polyps of the GI tract