Cancer Genetics & Hereditary Syndromes Flashcards

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

Answer: STK11 (LKB1)

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

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:

Answer: Prostate cancer and male breast cancer

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

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

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

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

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

Answer: Microsatellite instability (MSI)

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

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

Answer: RET

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

The phenomenon of 'anticipation' in cancer genetics refers to:

Answer: Earlier onset or increased severity of a condition in successive generations due to expanding repeats

Anticipation describes the observation in certain conditions where repeat expansions grow across generations, causing earlier onset or greater severity.