QuizMe 28

Genetic cancer syndrome (I)

A 45 yr old lady with a positive family history for a father passing away of colon cancer at the age of 42, and a paternal aunt diagnosed with endometrial cancer at the age of 45.

  • Colon Cancer
  • Endometrial cancer¬†

A- BRCA 1 or 2 gene mutation
B- Lynch syndrome
C- Peutz-Jehgers syndrome
D- Cowden syndrome
E- Li-Fraumeni syndrome

B- Lynch syndrome

Lynch syndrome is one of the more common familial cancer syndromes. It describes an autosomal dominant pathology caused by a variance in the genes of the mismatch mechanism for repair of damaged DNA. It confers an increased risk of early onset cancer of multiple types, including colorectal, endometrial, ovarian, gastric, small bowel, hepatobiliary, brain, ureteric and renal pelvis tumors.

Families with Lynch syndrome are identified clinically using Amsterdam criteria and Bathesda guidelines. Immunohistochemistry and microsatellite instability testing would follow in order to identify individuals with the greatest probability of carrying a germ line mutation within the mismatch repair gene.

Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793. Obstet Gynecol [2019]. Available from: https://pubmed.ncbi.nlm.nih.gov/31764758/