CGC Cancer Genetics & Hereditary Syndromes 1

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

BRCA1 and BRCA2 pathogenic variants are the hallmark of hereditary breast and ovarian cancer (HBOC) syndrome.

Question 2

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

Accepted Answer

MLH1, MSH2, MSH6, PMS2, EPCAM

Answer

Lynch syndrome results from germline pathogenic variants in mismatch repair (MMR) genes: MLH1, MSH2, MSH6, PMS2, and EPCAM (which silences MSH2).

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

Early-onset colorectal cancer with MSI-high tumor testing is a classic presentation prompting evaluation for Lynch syndrome.

Question 4

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

Accepted Answer

Lynch syndrome

Answer

The Amsterdam II criteria identify families with increased risk for Lynch syndrome based on colorectal cancer and Lynch-spectrum cancers across generations.

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

Whole-body MRI is the primary surveillance tool for Li-Fraumeni syndrome due to the broad spectrum of associated cancers.

CGC - Certified Genetic Counselor Practice Test

CGC - Certified Genetic Counselor Practice Test

CGC Cancer Genetics & Hereditary Syndromes 1