CGC Cancer Genetics & Hereditary Syndromes 3

Question 1

Peutz-Jeghers syndrome is characterized by hamartomatous polyps and mucocutaneous pigmentation and is caused by variants in:

Accepted Answer

STK11 (LKB1)

Answer

Peutz-Jeghers syndrome is caused by germline STK11 (LKB1) pathogenic variants and is associated with GI hamartomas and elevated cancer risk.

Question 2

A patient with a known BRCA2 pathogenic variant asks about male-specific cancer risks. The counselor should inform him that BRCA2 increases his risk for:

Accepted Answer

Prostate cancer and male breast cancer

Answer

BRCA2 carriers have elevated risks for prostate cancer and male breast cancer, making surveillance important for male carriers.

Question 3

Which of the following best describes 'variant of uncertain significance' (VUS) in the context of cancer genetics?

Accepted Answer

A variant whose clinical significance for disease risk has not yet been established

Answer

A VUS has insufficient evidence to classify it as pathogenic or benign and should not be used to guide clinical management decisions.

Question 4

The Bethesda guidelines for colorectal cancer testing were designed to identify tumors likely to show:

Accepted Answer

Microsatellite instability (MSI)

Answer

The Bethesda guidelines identify colorectal cancers with features suggesting MSI, prompting further Lynch syndrome evaluation.

Question 5

Multiple endocrine neoplasia type 2 (MEN2) is caused by germline pathogenic variants in which gene?

Accepted Answer

RET

Answer

MEN2 is caused by activating germline variants in the RET proto-oncogene and is associated with medullary thyroid cancer, pheochromocytoma, and hyperparathyroidism.

CGC - Certified Genetic Counselor Practice Test

CGC - Certified Genetic Counselor Practice Test

CGC Cancer Genetics & Hereditary Syndromes 3