Li-Fraumeni Syndrome Association Lauds Advancements in Classifying Hereditary Cancer Risks

HOLISTON, Mass., Oct. 29, 2021 /PRNewswire/ — The Li-Fraumeni Syndrome Association (LFSA), dedicated to advancing research and global awareness of the genetic predisposition to cancer, celebrates new findings published in the renowned JAMA Oncology journal with implications to better predict cancer risk. The concept of analyzing tumor patterns and genetic testing criteria, first presented last year at LFSA’s 5th International Symposium, may accelerate future research to develop more tailored approaches to cancer surveillance.

Li-Fraumeni syndrome (LFS) is an inherited cancer predisposition disorder often associated with early cancers that affect families, with particularly unique risks for children and women:

Women with LFS have about a 90% chance of developing cancer in their lifetime due to their markedly increased risk of breast cancer. About 40% of children with LFS will develop at least one cancer by age 18. People with LFS have about a 50% chance of developing cancer by age 40, and up to 90% by age 60. Each child of a parent with LFS has a 50% chance of inheriting the mutation

First recognized in 1969 by Dr. Frederick Li and Dr. Joseph Fraumeni through their study of childhood cancer and cancer-prone families, later found that LFS was caused by inherited defects of the TP53 gene, which serves as a tumor suppressor and is one of the most studied human genes. LFS research contributes greatly to cancer research as most cancers in the general population involve defects in the TP53 gene.

“These new findings lead the way for LFS patients and providers to make more informed decisions about surveillance and treatment based on our personal risk factors, with potential to improve prognosis,” said Jenn Perry, co-founder and president of LFSA.

The findings published in JAMA Oncology are the result of a collaboration of an international team of researchers, supported by LFSA and initiated by Professor Christian Peter Kratz, Hanover Medical School in Hanover, Germany.

“With the increasing use of TP53 sequencing over the past three decades, it became clear that the disease spectrum is broader than originally described. The new classification is an important step towards defining the factors that determine the unique cancer risk in individuals with Predicting LFS.” said Kratz.

Using the International Agency for Research on Cancer database, the research team analyzed data from 3,034 patients with an inherited TP53 variant and identified differences between variants in patients with severe disease compared to those with milder course.

“This new classification recognizes that LFS represents a spectrum of clinical presentations rather than a ‘one-size-fits-all’ syndrome. We expect that, armed with this knowledge, the LFS research community will be able to work on refining predictions.” individual cancer risk and tumor monitoring protocols will be tailored to the patient’s unique genetic and clinical characteristics,” said David Malkin, Hospital for Sick Children (SickKids) in Toronto, Canada, and senior author.

Malkin and Kratz were joined by senior author Professor Pierre Hainaut, of the Institute for Advanced Biosciences in Grenoble, France, and researchers from Brazil, England and the United States on the project. It was first discussed in October 2020 at the most recent LFSA-sponsored international symposium, where healthcare providers, researchers, medical students and people with LFS from around the world have a unique opportunity to collaborate.

The paper honors the memory of Professor Thierry Frébourg, a major contributor to genetic cancer research and president of the LFS Association France section, who passed away unexpectedly earlier this year.

For more information about the Li-Fraumeni Syndrome Association, visit www.lfsassociation.org, Facebook, Twitter, and Instagram.

About the Li-Fraumeni Syndrome Association The LFS Association (LFSA) was founded in 2010 to help promote research into Li-Fraumeni syndrome and create global awareness, support patients and families, and advance funding for cancer research. The association consists of a fully volunteer board, a medical advisory board, a scientific advisory board, and a genetic counselor advisory group with international chapters made up of medical professionals, patient family advocates, and youth coordinators. Chapters include Australia/New Zealand, Canada, France, Germany, India, Japan, Latin America, Netherlands, Saudi Arabia, Africa, and Singapore. LFSA is a member of the National Organization of Rare Diseases (NORD) and their Rare Cancer Coalition and is recognized and awarded by the Chan Zuckerberg Rare as One foundation.

Media contact: Elizabeth Cowles860-426-9991 ext 20322561@email4pr.com

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SOURCE Li-Fraumeni Syndrome Association

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