QuizMe 30

Genetic Cancer Syndrome (III)

A 21 yr old lady is with breast cancer. Her brother was diagnosed with osteosarcoma at the age of 17 years, and her cousin with a brain tumor at the age of 20 years.

  • BRCA 1 or 2 gene mutation
  • Lynch syndrome
  • Peutz-Jehgers syndrome
  • Cowden syndrome
  • Li-Fraumeni syndrome

 Li-Fraumeni syndrome

Li Fraumeni is an autosomoal dominant syndrome caused by abnormalities within the tumor suppressor gene P53. These patients have a substantially high lifetime cumulative risk of developing multiple malignancies, and have a strong family history for early-onset malignancies.

Li-Fraumeni Syndrome (LFS) component tumors include soft tissue sarcomas osteosarcoma, premenopausal breast cancer, brain tumors, and adrenal cortical carcinomas, with an increased risk for a multitude of different cancer types as well.


  • Whether part of well-woman clinics, or alongside presentation of a neoplasm (benign or otherwise), a meticulous family history is integral for the detection of sinister genetic cancer syndromes. As such, any healthcare professional involved in the patient’s diagnostic pathway should be familiar with the clinical criteria and the guidance used to identify these patients.
  • Clues that may alert for an underlying genetic cancer syndrome include:
    • Cancer diagnosed at young age
    • Several neoplasms of different types in a patient
    • Unusual presentation of a cancer type
    • Several close blood relatives with malignancies
    • Pathognomonic signs
  • At risk patients should be referred for genetic counseling and testing, with potentially life-saving cancer risk reduction measures; follow-up, surveillance, and prophylactic surgery when indicated.