Cancer Genetics & Hereditary Syndromes Flashcards

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

Answer: Hereditary breast and ovarian cancer (HBOC) syndrome

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

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

Answer: MLH1, MSH2, MSH6, PMS2, EPCAM

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

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

Answer: Lynch syndrome

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

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

Answer: Lynch syndrome

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

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

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

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

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

Answer: Germline CDH1 pathogenic variants and lobular breast cancer risk

HDGC is caused by CDH1 germline pathogenic variants and confers high risks for diffuse gastric cancer and lobular breast cancer.