Li Fraumeni Syndrome News and Research

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New blood test revolutionizes early cancer detection in Li-Fraumeni Syndrome patients

Canadian researchers develop a cell-free DNA-based multimodal assay for early cancer detection in patients with Li-Fraumeni Syndrome, a high-cancer-risk condition. The assay outperforms conventional methods, promising more sensitive and less invasive cancer surveillance.

29 Oct 2023

Blood test detects cancer earlier in individuals with Li-Fraumeni syndrome

Researchers from The Hospital for Sick Children (SickKids), the Ontario Institute for Cancer Research (OICR) and University Health Network (UHN) have demonstrated that by analyzing patients' blood samples, they are able to detect cancer earlier in individuals with Li-Fraumeni syndrome, an inherited condition with an almost 100 percent life-time risk of developing cancer.

24 Oct 2023

Study modeling tumor evolution reveals a central tradeoff that could be exploited for cancer treatment

Though the mutations accumulated by cancer cells occur more or less randomly, certain regions of genes essential to cancer growth appear to be more frequently mutated than others in established tumors.

11 May 2022

TP53 mutations in men may predispose to aggressive prostate cancer

Men who have mutations in a gene called TP53 have a high risk of developing aggressive prostate cancer, a multicenter research team in the United States has found.

11 Dec 2021

Men with inherited gene mutation have high risk of aggressive prostate cancer

Men who inherit mutations in a gene called TP53 have a high risk of developing aggressive prostate cancer, a multicenter research team in the United States has found.

2 Dec 2021

Blood test could enable early detection of cancer in people with neurofibromatosis type 1

People with an inherited condition known as neurofibromatosis type 1, or NF1, often develop non-cancerous, or benign, tumors that grow along nerves. These tumors can sometimes turn into aggressive cancers, but there hasn't been a good way to determine whether this transformation to cancer has happened.

31 Aug 2021

Study findings help explain the diversity of cancers in different Li-Fraumeni patients

The most frequently mutated gene in human cancers is called p53. Patients with Li-Fraumeni syndrome, which is a rare disorder that increases the risk of developing several types of cancer, often have an increased risk to develop cancers at early ages if they inherit p53 mutations.

23 Feb 2021

Study outlines the reasons to test pediatric cancer patients for inherited genes

Because cancers in children are rare, many details about their biology remain unknown. In the field of cancer genetics, there's a limited understanding of how inherited genetic changes may contribute to the formation and growth of tumors.

16 Feb 2021

Rare inherited mutation in TP53 gene confers risk of multiple cancers

Rare inherited mutations in the body's master regulator of the DNA repair system – the TP53 gene – can leave people at a higher risk of developing multiple types of cancer over the course of their lives.

16 Jul 2020

Study offers new insight into genetic alterations associated with osteosarcoma

A study by researchers at the National Cancer Institute, part of the National Institutes of Health, offers new insight into genetic alterations associated with osteosarcoma, the most common cancerous bone tumor of children and adolescents.

19 Mar 2020

Research shows cost effectiveness and benefits of early cancer surveillance

New research published today in the journal Pediatric Blood and Cancer shows how early cancer screening and surveillance in patients with Li-Fraumeni Syndrome (LFS) results in additional years of life, and is cost effective for third-party payers.

5 Feb 2019

Blocking stress-responsive protein reduces loss of tumor suppressor gene in breast cancer

Over half of all breast cancers carry genetic defects in the p53 gene, a powerful tumor suppressor. Loss of this gene increases the risk of getting breast cancer and the resultant cancers become highly resistant to treatment.

4 Oct 2018

Researchers identify six genes that predispose carriers to develop medulloblastoma

Researchers have identified six genes that predispose carriers to develop the brain tumor medulloblastoma and have used the discovery to craft genetic counseling and screening guidelines. The study appears today in the journal The Lancet Oncology.

10 May 2018

Newly identified germline variations increase risk of relapse or second cancers in leukemia patients

Newly identified germline variations in a key tumor suppressor gene predispose individuals to develop leukemia as children and leave them with a 1-in-4 chance of developing a second cancer later. St. Jude Children's Research Hospital scientists led the study, which appears today in the Journal of Clinical Oncology.

5 Jan 2018

Study underscores need for genetic screening to improve safety of experimental stem cell treatments

Regenerative medicine using human pluripotent stem cells to grow transplantable tissue outside the body carries the promise to treat a range of intractable disorders, such as diabetes and Parkinson's disease.

26 Apr 2017

Qlucore’s Omics Explorer enables researchers to study genetic influences behind Li-Fraumeni Syndrome

While childhood cancer is rare (adult malignancies after 20 years are 20-30 times more common in general) it remains a major cause of death by disease in children. 15,700 children are diagnosed with cancer each year in the USA.

31 Mar 2016

Ambry Genetics presents groundbreaking TP53 gene data at ASHG; TP53 linked to breast cancer

Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, has announced new data affirming the effectiveness of multi-gene panel testing (MGPT) in identifying TP53 gene mutations in people who might otherwise not have been tested. The findings, presented as a poster at the American Society of Human Genetics (ASHG) 2015 Annual Meeting in Baltimore, includes data collected from more than 25,000 individuals having TP53 testing, of which 187 were positive. The tested cohort is the largest to date from a single testing laboratory.

9 Oct 2015

Researchers find mutated gene responsible for cardiac angiosarcoma in two brothers

A few years ago, Javier Benítez, director of the Human Genetics Group at the CNIO, received a call from Pablo García Pavía, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS).

26 Sep 2015

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, where the survival rate has not improved in 40 years despite treatment advances.

10 Apr 2015

New study sheds light on syndrome linked to aggressive pediatric cancer

A new study involving researchers at The University of Nottingham has revealed how children with an aggressive cancer predisposition syndrome experience a never before seen flood of mutations in their disease in just six months.

4 Feb 2015