Which of the following are correct regarding Li-Fraumeni syndrome?
1. It has autosomal dominant inheritance and is associated with P53 gene.
2. It has autosomal recessive inheritance and is associated with P53 gene.
3. It is associated with an increased risk of sarcomas and leukaemia.
4. It is associated with an increased risk of brain tumours and osteo- sarcomas.
Select the answer using the code given below.

Question

Which of the following are correct regarding Li-Fraumeni syndrome?

1. It has autosomal dominant inheritance and is associated with P53 gene.

2. It has autosomal recessive inheritance and is associated with P53 gene.

3. It is associated with an increased risk of sarcomas and leukaemia.

4. It is associated with an increased risk of brain tumours and osteo- sarcomas.

Select the answer using the code given below.

Prepp Team · Accepted Answer

Li-Fraumeni Syndrome: Key Characteristics

Li-Fraumeni syndrome is a rare inherited disorder that significantly increases the risk of developing various types of cancer. Understanding its inheritance pattern, associated genes, and cancer risks is crucial.

Statement Analysis

Let's analyze each statement regarding Li-Fraumeni syndrome:

Statement 1: Correct. Li-Fraumeni syndrome follows an autosomal dominant inheritance pattern. This means only one copy of a mutated gene in each cell is sufficient to increase the risk of cancer. The syndrome is strongly associated with mutations in the TP53 tumor suppressor gene, often referred to as the 'guardian of the genome'.
Statement 2: Incorrect. This statement incorrectly claims an autosomal recessive inheritance. The established pattern is autosomal dominant.
Statement 3: Correct. Individuals with Li-Fraumeni syndrome have a substantially elevated lifetime risk for a wide array of cancers, including various types of sarcomas (cancers of connective tissues like bone and muscle) and leukaemia (cancer of blood-forming tissues).
Statement 4: Correct. The syndrome is also linked to an increased risk of other cancers such as brain tumours (including gliomas and medulloblastomas) and osteosarcomas (a type of bone cancer).