Question

40F with soft tissue sarcoma. Worried about passing it on to her children. What do you tell her? a. High risk as associated with autosomal dominant syndromes b. Low risk as associated with autosomal recessive syndromes c. Depends on environmental factors d. Low risk as most arise from spontaneous mutations (The most true? - there is a genetic linkage with some autosomal dominant syndromes (Li-fraumeni, etc.) but the MAJORITY are sporadic)

Answer 1

A 40-year-old female with soft tissue sarcoma has a low risk of passing it on to her children as most cases are due to spontaneous mutations, with a small percentage linked to hereditary conditions such as Li-Fraumeni syndrome.

Step-by-step explanation:

The risk of a 40-year-old female with soft tissue sarcoma passing it on to her children is generally low, as most soft tissue sarcomas arise from spontaneous mutations. Although there is a genetic component to some sarcomas, such as those associated with Li-Fraumeni syndrome which is related to mutations in the p53 gene, the vast majority are sporadic and not inherited.

Inherited cancer syndromes like Li-Fraumeni are rare and involve autosomal dominant inheritance patterns; however, these account for a small percentage of all cancer cases. Environmental factors can also play a role in cancer development, but they do not change the inherent genetic risk for inheritable cancers.

Even with high-risk cancer genes, like BRCA1 and BRCA2, not everyone who inherits the genes will develop cancer. It is important to consider family history and consult a genetic counselor to assess familial risk and explore genetic testing options. For recessive disorders, such as cystic fibrosis, offspring require two copies of the mutated gene to be affected, whereas autosomal dominant disorders can be passed with just one copy of the mutated gene.

Learn more about Genetic Risk of Soft Tissue Sarcoma

Answer 2

The risk of passing soft tissue sarcoma to children is low, as most cases are sporadic and not inherited. Certain genetic conditions like Li-Fraumeni syndrome do increase cancer risk but are rare. Genetic counseling is recommended for those with a family history suggesting a genetic predisposition. The correct option is D.

Step-by-step explanation:

If a 40-year-old woman with soft tissue sarcoma is concerned about passing the condition on to her children, the most accurate answer is that there is a low risk as most cases arise from spontaneous mutations.

While there are certain genetic syndromes, such as Li-Fraumeni syndrome, that can increase the risk due to inherited mutations in genes like p53, the majority of sarcomas are considered sporadic with no clear genetic predisposition. Therefore, the hereditary risk of the children developing sarcoma based solely on their mother's condition is low.

It is important to know that various factors, including genetics and environmental exposures, can influence cancer risk. However, familial syndromes that lead to a predisposition to cancer, such as Li-Fraumeni syndrome or mutations in the BRCA1 and BRCA2 genes, represent a minority of cancer cases. In cases where there is a family history suggestive of such a genetic predisposition, genetic counseling and testing may be advised to assess individual risk. The correct option is D.