What are the sexual predilections of Li-Fraumeni syndrome?

Updated: Nov 13, 2018
  • Author: ; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Li-Fraumeni syndrome has an autosomal dominant inheritance pattern; therefore, the genetic predisposition for cancer equally affects males and females. Cancer penetrance is 93% for female carriers compared with 73% for male carriers, owing to the increased risk of breast cancer in females. [20] It is estimated that 5-8% of women diagnosed with early-onset breast cancer (at < 30 y) with a negative family history may have a mutation in the TP53 gene. [25]

Almost 90% of affected females develop breast cancer by age 60 years, with a majority occurring before age 45 years. [26] Increased occurrence of breast cancer in males of Li-Fraumeni syndrome kindreds is not reported.

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