Li-fraumeni syndrome

Overview

What is Li-Fraumeni syndrome?

Li-Fraumeni syndrome is a cancer condition caused by genetic changes in the TP53 gene. Genetic changes in this gene can be passed from parent to child. In other words, Li-Fraumeni syndrome runs in families. People with a genetic change in TP53 have an increased risk for certain types of cancer, including breast cancer, soft tissue sarcoma, osteosarcoma, and other cancers. Both men and women can have Li-Fraumeni syndrome.

References
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Are there other names for Li-Fraumeni syndrome?

How common is Li-Fraumeni syndrome?

Are there any other diseases that look a lot like Li-Fraumeni syndrome?

What's the usual abbreviation for Li-Fraumeni Syndrome?

What type of syndrome is Li-Fraumeni?

Are there other names for Li-Fraumeni syndrome?

Li-Fraumeni syndrome is sometimes abbreviated to LFS. This condition has also historically been referred to as SBLA syndrome based on the cancers that occur in families with this condition. These cancers include sarcoma, breast and brain tumors, leukemia, laryngeal and lung cancer, and adrenal cortical carcinoma. Li-Fraumeni syndrome was named after Dr. Frederick Li and Dr. Joseph F. Fraumeni, Jr. who initially described this condition.

References
How common is Li-Fraumeni syndrome?

Li-Fraumeni syndrome is a rare hereditary cancer condition. It is estimated that about 1% of hereditary breast cancer is due to Li-Fraumeni syndrome. Recent data suggests that 1 in 5,000 to 1 in 20,000 people have Li-Fraumeni syndrome. As more families undergo TP53 testing, we will learn more about how many people have this condition.

References
  • Li-Fraumeni syndrome - Genetics Home Reference - NIH. (2019, November 12). Retrieved from http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome
  • Lalloo F, Varley J, Ellis D, Moran A, O'Dair L, Pharoah P, Evans DG., Early Onset Breast Cancer Study Group. Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet. 2003 Mar 29;361(9363):1101-2.
  • Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN. Beyond Li-Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009b;27:1250-6.
  • Sidransky D, Tokino T, Helzlsouer K, et al. Inherited p53 gene mutations in breast cancer. Cancer Res.1992;52:2984-2986.
Are there any other diseases that look a lot like Li-Fraumeni syndrome?

Li-Fraumeni syndrome is caused by mutations, or genetic changes, in the TP53 gene. There are also other hereditary breast cancer syndromes. For example:

  • Hereditary Breast and Ovarian Cancer syndrome (BRCA1 and BRCA2 genes) increases the risk for breast, ovarian, prostate, pancreatic, and other cancers
  • Cowden syndrome (PTEN gene) increases the risk for breast, thyroid, uterine, kidney, and other cancers
  • Hereditary Diffuse Gastric Cancer syndrome (CDH1 gene) increases the risk for breast, stomach, and colorectal cancer
  • Peutz-Jeghers syndrome (STK11 gene) increases the risk for breast, colorectal, stomach, small bowel, pancreatic, and other cancers

Of note, there are other hereditary cancer syndromes caused by mutations in different genes.

There are also other genes, referred to as moderately penetrant genes, that are associated with hereditary breast and/or hereditary ovarian cancer. Although moderate penetrance genes are associated with hereditary cancer, the cancer risks are not as high when compared to genes such as TP53. Moderate penetrance genes associated with an increased risk for breast and other cancers include genes such as ATM, CHEK2, and PALB2.

References
  • Petrucelli, N. (2016, December 15). BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1247/.
  • Li-Fraumeni syndrome - Genetics Home Reference - NIH. (2019, November 12). Retrieved from http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome
What's the usual abbreviation for Li-Fraumeni Syndrome?

Li-Fraumeni Syndrome is most often abbreviated as LFS, standing for Li-Fraumeni Syndrome. However, sometimes it is know as other things, such as Sarcoma, breast, leukemia, and adrenal gland syndrome, which can be abbreviated as SBLA Syndrome.

References
What type of syndrome is Li-Fraumeni?

Li-Fraumeni is a cancer predisposition syndrome. This means that being diagnosed with this syndrome can help give you all of your cancer risks (based on type, age, etc). A predisposition syndrome is a syndrome that you may not show symptoms of at the time of testing, but symptoms may appear later in life. Testing for a predisposition can be helpful because it may lead to getting increased screening or recommended surgeries that can help reduce your risk or allow for early detection.

References

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