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.
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).
Conclusion
Based on the analysis, statements 1, 3, and 4 accurately describe characteristics of Li-Fraumeni syndrome.
Therefore, the correct combination is 1, 3, and 4.
Important Questions from Tumours
Which types of cancer are associated with exposure to ionizing radiation?
1. Leukaemia
2. Lung cancer
3. Breast cancer
4. Lymphoma
Select the correct answer using the code given below.
- A 25 year old female patient with previous history of neck irradiation presents with thyroid swelling for last 6 months. The patient is clinically euthyroid. On examination, the right lobe of thyroid gland is enlarged with presence of ipsilateral cervical lymphadenopathy. The most probable clinical diagnosis in this patient is
Which of the following statements regarding Carcinoid tumour are correct?
1. Terminal ileum is the most common site for these tumours in the gastrointestinal tract
2. These tumors arise from Kulchitsky cells situated at the base of intestinal crypts
3. 5-Hydroxytryptamine is the most common vasoactive peptide produced by these tumors
4. Serum chromogranin A is a useful marker for disease recurrence
Select the correct answer using the code given below :
- Which one of the following is correct regarding Gastrointestinal Stromal Tumour (GIST)?
- Which one of the following is NOT associated with BRCA1/BRCA2 genes ?
