“We all are gifted, that is an inheritance.” Whatever we have is what we carry within us through our ancestors. Our family history plays a critical role in our lives. Cancer is mostly occurs because of changes or mutation in genes, due to some exposure to cancer causing substances and our lifestyles, etc. It is considered as a sporadic condition. But no, not all cancers are acquired.
Cancer can flow within the family, where mutated gene or changes are passed down through parents to children, which is considered as hereditary cancer and these types of cancer are termed as Hereditary cancer syndromes.
Few Hereditary syndromes are Hereditary Breast & Ovarian Cancer Syndrome, Cowden Syndrome, Lynch Syndrome, Li-Fraumeni Syndrome, etc. Though these syndromes are rare genetic conditions if a family history of such syndromes, then it puts an individual into a high risk of having cancer.
Our previous blog gave you an idea about the common most Hereditary Syndrome, Lynch Syndrome.
In this blog, we would like to share you few details about Li-Fraumeni Syndrome (LFS). Li-Fraumeni syndrome is considered as a rare genetic condition, which develops an increasing risk of multiple types of cancer. This syndrome is not specific to a single type of cancer. The different cancers associated with LFS are Soft tissue sarcoma, Breast cancer, Leukemia, Lung cancer, Brain tumors, Adrenal Gland cancer. These This cancers cancers can be is diagnosed at any stage of life.
What is the genetics behind Li-Fraumeni syndrome, why is it hereditary?
Li-Fraumeni syndrome is caused due to inherited TP53 gene mutation, where TP53 is a tumor suppressor gene that controls the growth and division of cells. LFS is mostly run within the family due to the germline mutations in TP53 tumor suppressor genes. It is an autosomal dominant type of cancer in which an individual needs only one copy of the mutated gene to develop the disease. It is considered there is 85% of a chance for an individual to develop cancer in his lifetime, who is a carrier of TP53 mutation*.
Can you consider all TP53 mutated cancers as Li-Fraumeni syndrome cancer?
Not all TP53 mutations are responsible to be considered. In Li-Fraumeni syndrome, as this gene mutation can result from de novo (new) mutations, which can occur in individuals with no family history of the disorder within the family.
What if you suspect such family history of the Li-Fraumeni syndrome?
If you are concern about specific cancer types running in your family, there is a need for genetic analysis in such case. Many Genetic Testings are available, which can report you the effected genes and analyze your hereditary risk.
Myriad myRisk test would be an appropriate test to consider for your hereditary analysis. myRisk is a 35 gene panel for recognizing inherited risk for eight important types of cancers: breast, colorectal, ovarian, endometrial, gastric, pancreatic, melanoma and prostate. myRisk test would provide you the genetic result and its clinical significances and a type of cancer risk associated with the genetic result, along with which it would also provide you the breast cancer risk score and give you an easement based on the clinical history provided and would provide you the risk management available options.
* Le Bihan, C., Moutou, C., Brugières, L., Feunteun, J. and Bonaïti‐Pellié, C., 1995.
ARCAD: a method for estimating age‐dependent disease risk associated with mutation
carrier status from family data. Genetic epidemiology, 12(1), pp.13-25.