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Papers & Research Literature

Clustering of TP53 variants into functional classes correlates with cancer risk and identifies different phenotypes of Li-Fraumeni syndrome

High resolution clustering of TP53 variants into functional classes  correlates with cancer risk among germline variant  carriers and identifies different phenotypes of the Li-Fraumeni Syndrome. Emilie Montellier, PhD (1), Nathanaël Lemonnier, PhD (1), Judith Penkert, MD (2), Claire Freycon, MD (1,3,4), Sandrine Blanchet, MSc (1), Amina Amadou, PhD (1,5), Florent Chuffart, PhD (1), Nicholas Fischer,

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome (“Toronto Protocol”)

In October 2016, the American Association for Cancer Research organized a meeting with international experts on Li-Fraumeni Syndrome (LFS) to review the current understanding of the condition and propose consensus guidelines for surveillance. This summary provides an overview of the clinical and genetic aspects of this aggressive cancer predisposition syndrome. The expert panel concluded that

By |2025-07-01T15:08:20-04:00January 31st, 2025|Papers & Research Literature, Reference|0 Comments

Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome

Immunotherapy has revolutionized the treatment of cancers in the last 15 years, demonstrating that a patient's very own immune system can seek and destroy a tumor even in its earlier stages. One of the most exciting findings from this research is the possibility that the immune system responds against non-inherited (spontaneous) mutations in the TP53

2011: Monograph on Li-Fraumeni Syndrome by David Malkin

Li-Fraumeni syndrome (LFS) is a genetic disorder linked to mutations in the p53 tumor suppressor gene, leading to a wide range of cancers. While p53 mutations help explain some cancer risks, they don't fully account for the complex patterns seen in LFS. Recent research has found other genetic factors, like polymorphisms and telomere changes, that

By |2024-08-13T17:05:42-04:00August 13th, 2024|Papers & Research Literature|0 Comments

1988: A cancer family syndrome in twenty-four kindreds by Fred Li

Researchers analyzed families with a pattern of sarcomas, breast cancer, and other cancers occurring in young patients. They found that cancer developed in an autosomal dominant pattern, with 79% of affected individuals diagnosed before age 45. These families also had higher rates of brain tumors, leukemia, and adrenocortical carcinoma. The variety of cancers suggests unique

By |2024-08-13T16:09:11-04:00August 13th, 2024|Papers & Research Literature|0 Comments

1987: Normal cytotoxic response of skin fibroblasts from patients with Li-Fraumeni familial cancer syndrome to DNA-damaging agents in vitro

Researchers tested cells from people with Li-Fraumeni Syndrome (LFS), a genetic condition that increases cancer risk, to see how they respond to DNA-damaging agents like X-rays. They found no significant differences between the cells of affected individuals and those of unaffected relatives or controls, suggesting this method might not be useful for identifying at-risk

By |2024-08-13T16:09:40-04:00August 13th, 2024|Papers & Research Literature|0 Comments

A qualitative study to assess the psychological experiences and coping strategies of families affected with Li-Fraumeni syndrome in the Indian population

Culture Matters:  Individuals affected by LFS reported a wide range of experiences with this rare and poorly understood condition. Limited availability of information often contributed to delays and denial in diagnosis. Their accounts highlight critical yet underexplored issues—such as guilt and helplessness—that warrant urgent attention. Future policies should be informed by these perceived needs

Family communication challenges of adolescents and young adults with Li-Fraumeni syndrome: Implications for psychosocial care

Adolescents and young adults (AYAs) reported family communication difficulties related to LFS that negatively affected their emotional well-being. Stress related to LFS and major life changes both contributed to and were worsened by these family challenges.  Clinicians can support AYAs with LFS by asking about family communication, responding with empathy, offering resources to help with

Breastfeeding reduces the risk of breast cancer

Although the reduced risk of breast cancer with breastfeeding has not been studied with Li-Fraumeni syndrome, in particular, this review of breast feeding and the reduced risk of breast cancer is cause for further consideration.  See more here - Breastfeeding reduces the risk of breast cancer:  A call for action in high-income countries with low

By |2026-01-15T11:43:17-05:00September 26th, 2022|Papers & Research Literature|0 Comments

Psychological Impact of TP53-Variant-Carrier Newborns and Counselling on Mothers: A Pediatric Surveillance Cohort

This study examined anxiety and depression in mothers of newborns carrying the TP53 p.R337H variant in southern Brazil. Mothers of carriers showed higher anxiety shortly after genetic testing, but anxiety decreased within four months. Depression levels did not significantly change. Ongoing psychological support may be needed for mothers with existing mental health concerns. (2022)

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