CGC Cancer Genetics & Hereditary Syndromes 2

Question 1

A woman with a pathogenic BRCA1 variant asks about risk-reducing options. Which of the following has the greatest evidence for reducing ovarian cancer mortality?

Accepted Answer

Risk-reducing salpingo-oophorectomy (RRSO)

Answer

Annual CA-125 and transvaginal ultrasound

Answer

Oral contraceptive use indefinitely

Answer

Prophylactic whole-abdominal radiation

Question 2

Tumor testing for microsatellite instability (MSI) or mismatch repair (MMR) protein expression via immunohistochemistry (IHC) is recommended for:

Accepted Answer

All patients diagnosed with colorectal cancer

Answer

All patients with breast cancer

Answer

Patients over age 70 with any cancer

Answer

Patients with no family history of cancer

Question 3

Familial adenomatous polyposis (FAP) is caused by pathogenic variants in the APC gene and is characterized by:

Accepted Answer

Hundreds to thousands of colonic adenomatous polyps with near-100% colorectal cancer risk if untreated

Answer

A few colonic polyps (fewer than 10) in adulthood

Answer

Hamartomatous polyps throughout the GI tract

Answer

Exclusively upper GI polyps with low malignant potential

Question 4

Which PTEN-related syndrome is associated with an increased risk of breast, thyroid, endometrial, and colorectal cancers along with macrocephaly?

Accepted Answer

Cowden syndrome (PTEN hamartoma tumor syndrome)

Answer

Bannayan-Riley-Ruvalcaba syndrome

Answer

Peutz-Jeghers syndrome

Answer

Juvenile polyposis syndrome

Question 5

A 28-year-old woman is referred after her mother was diagnosed with ovarian cancer. BRCA1/2 testing is BEST initiated with:

Accepted Answer

The affected mother first to identify the familial variant before testing unaffected relatives

Answer

The 28-year-old patient directly since she is at risk

Answer

The patient's siblings simultaneously

Answer

Population-based BRCA testing without family history context

Question 6

Which of the following cancers is part of the Lynch syndrome cancer spectrum?

Accepted Answer

Endometrial, ovarian, gastric, urinary tract, and small bowel cancers

Answer

Pancreatic cancer exclusively

Answer

Medullary thyroid cancer

Answer

Mesothelioma