Tag: Li-Fraumeni Syndrome

ICARE Featured Video July 2024

Li-Fraumeni Syndrome

Below is a featured video from the July 2024 case conference, during which Megan Frone, MS, CGC presents on Li-Fraumeni Syndrome.

Permanent link to this article: https://inheritedcancer.net/video71224/

ICARE Newsletter Fall 2023

National Comprehensive Cancer Network (NCCN) Guidelines Updates

Check out the full NCCN guidelines by creating a FREE account at www.nccn.org Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic CancerReleased August 28th, 2023 (V1.2024) › Transgender, Non-Binary, and Gender Diverse Individuals: NEW section on care (Page 63-66, TNBGD-1 to 4)› Li-Fraumeni Syndrome: Significant updates to content (risks and care) (Pages 57-60, LIFR-A): Table added …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-fall-2023-national-comprehensive-cancer-network-nccn-guidelines-updates/

ICARE Social Media Post August 2023

 Updates to NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic

 

The National Comprehensive Cancer Network (NCCN) just released updated Genetic/Familial Breast, Ovarian, and Pancreatic Cancer guidelines on August 28th, 2023, which included: You can check out the full guidelines by creating a FREE account at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_bop.pdf

Permanent link to this article: https://inheritedcancer.net/post82923/

ICARE Social Media Post June 2023

Li-Fraumeni Syndrome/TP53 mutations

A recent study found that, regardless of a prior cancer diagnosis, there was no increased cancer worry after 1 year of full-body MRI surveillance in TP53 carriers. Further research is needed to evaluate these issues further. Use the link in bio to read the full article! Reference: Omran, et al. Cancer. 2023;129(6):946-955. PMID: 36601958.

Permanent link to this article: https://inheritedcancer.net/post62123/

ICARE Featured Video June 2023

CHIP/Variant Interpretation in Li-Fraumeni Syndrome

Below you may watch a featured video from the June 2023 Genetics Case Conference, which focused on CHIP and variant interpretation in Li-Fraumeni Syndrome with guest expert Bita Nehoray, MS, CGC from the City of Hope.

Permanent link to this article: https://inheritedcancer.net/video60823/

ICARE Newsletter Spring 2023

Melanoma Risk in Li-Fraumeni Syndrome

A recently published cohort study of 483 individuals with Li-Fraumeni Syndrome (LFS) identified 113 skin cancers. The cumulative incidence of a diagnosis of any skin cancer was 36.3% by the age of 70. Specifically for melanoma, the median age at diagnosis was 42 with a 7-fold increased incidence (SIR 7.28, 95% CI 4.50-11.13) compared with …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2023-melanoma-risk-in-li-fraumeni-syndrome/

ICARE Social Media Post March 2023

Melanoma in TP53 /Li-Fraumeni Syndrome

A new study found a 7-fold increased incidence of melanoma in individuals with TP53/Li-Fraumeni Syndrome compared with the general population:• Average age was 42• Risk to age 40 was 2.8%• Risk to age 60 was 7.8%• Risk to age 70 was 14.9% Learn more at the link below!https://pubmed.ncbi.nlm.nih.gov/35183552/ Reference: Hatton, et al. J Invest Dermatol. …

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Permanent link to this article: https://inheritedcancer.net/post30723/

ICARE Newsletter Spring 2022 

 Li-Fraumeni Syndrome and Cancer Risks 

A new study reported on differences in the TP53 mutations between patients who met vs those who did not meet Li-Fraumeni Syndrome (LFS) testing criteria. Several variants were identified multiple times in those who did and did not meet LFS clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282. Other variants were exclusively found in those …

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Permanent link to this article: https://inheritedcancer.net/icare-newsletter-spring-2022-li-fraumeni-syndrome-and-cancer-risks/

ICARE Featured Video August 2022

Total Body MRI Screening Protocol in Li-Fraumeni Syndrome Patients

Below you may watch a featured video from the August 2022 Genetics Case Conference focused on total body MRI screening protocol in Li-Fraumeni Syndrome patients with guest expert Joanna Shechtel, MD.

Permanent link to this article: https://inheritedcancer.net/video81122/

ICARE Social Media Post December 2021

Li-Fraumeni Syndrome Cancer Risks

• Several variants were identified multiple times in those who did and did not meet Li-Fraumeni Syndrome clinical criteria: p.R175, p.G245, p.R248, p.R273, and p.R282• Other variants were exclusively found in those in the Li-Fraumeni Syndrome group: p.M133T, p.P152L, p.C275Y, p.C275, p.R337C, p.R342, and p.R342P• One variant was exclusively found in patients with attenuated Li-Fraumeni …

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Permanent link to this article: https://inheritedcancer.net/post122121/

ICARE Newsletter Winter 2021

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

An old study back in 1999 suggested that CHEK2 may be a Li-Fraumeni Syndrome gene.1 However, a subsequent report in 2002 clearly refuted this original assertion, and based on additional data and analysis concluded that “… it is very unlikely that CHEK2 is an alternative Li-Fraumeni Syndrome susceptibility gene.”2 Another subsequent report in 2008 based …

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Permanent link to this article: https://inheritedcancer.net/4nlw2021/

ICARE Social Media Post December 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

For additional details, read the articles at the links below: 𝟭𝟵𝟵𝟵: https://pubmed.ncbi.nlm.nih.gov/10617473/ 𝟮𝟬𝟬𝟮: https://pubmed.ncbi.nlm.nih.gov/12442270/ 𝟮𝟬𝟬𝟴: https://pubmed.ncbi.nlm.nih.gov/18178638/

Permanent link to this article: https://inheritedcancer.net/post121820/

ICARE Featured Video November 2020

CHEK2 is NOT a Li-Fraumeni Syndrome Gene

Below you may watch a featured video from the November 2020 Genetics Case Conference, which outlined how CHEK2 is NOT a Li-Fraumeni Syndrome gene. For additional details, read the articles at the links below: 𝟭𝟵𝟵𝟵: https://pubmed.ncbi.nlm.nih.gov/10617473​ 𝟮𝟬𝟬𝟮: https://pubmed.ncbi.nlm.nih.gov/12442270​ 𝟮𝟬𝟬𝟴: https://pubmed.ncbi.nlm.nih.gov/18178638

Permanent link to this article: https://inheritedcancer.net/video111220/

ICARE Social Media Post October 2020

TP53: Cancer Risks and Risk Management

Gene: 𝙏𝙋𝟱𝟯 Syndrome: Li-Fraumeni Cancer Risks and Management per National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast/Ovarian/Pancreatic Version 1.2021: 𝗪𝗼𝗺𝗲𝗻: Breast cancer risk: Elevated at 54% – Recommend clinical breast exam every 6-12 months starting at age 20, annual breast MRI with contrast starting at age 20, and annual mammogram starting at age 30; …

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Permanent link to this article: https://inheritedcancer.net/post101620/

ICARE Newsletter Summer 2019

Community Spotlight

Life was great at 45. I had nothing more than a few headaches and was a tad overweight. After a friend was diagnosed with breast cancer, I realized I had not had a mammogram in a couple of years, so I scheduled an appointment. One mass was found, but it was benign and nothing to …

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Permanent link to this article: https://inheritedcancer.net/spotlightnls2019/

ICARE Newsletter Summer 2019

Expanding Our Thinking About Cancer Risks in TP53 Mutations and Li-Fraumeni Syndrome

Since expanded genetic testing has become available through multigene panel tests, studies have suggested that many people identified to have TP53 mutations do not have a typical personal or family history, which is usually seen with Li-Fraumeni syndrome (LFS). A recent study looking at over 300 individuals with TP53 mutations (identified through multi-gene panel testing) …

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Permanent link to this article: https://inheritedcancer.net/11nls2019/

ICARE Newsletter Summer 2018

Inherited Leukemias: The Importance of TP53/Li-Fraumeni Syndrome and Other Genes

It has long been established that the risk for developing leukemia in childhood is high among individuals with Li-Fraumeni Syndrome; however, better understanding the characteristics of leukemia among these individuals is important to guide treatment approaches. In a study of children with Acute Lymphocytic Leukemia (ALL), those with a germline TP53 mutation (compared to those …

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Permanent link to this article: https://inheritedcancer.net/11nls2018/

ICARE Newsletter Winter 2018

Advances in Cancer Screening Among Li-Fraumeni Syndrome Patients

Several research groups from around the world that have conducted cancer screening among patients with Li-Fraumeni syndrome and a germline TP53 mutation have recently reported on their observations. Specifically, the National Cancer Institute group demonstrated that screening inclusive of rapid total body MRI detected cancers at an early stage,1 similar to findings published through other …

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Permanent link to this article: https://inheritedcancer.net/5nlw2018/

ICARE Newsletter Summer 2017

What Are New and Subsequent Cancer Risks Among Patients with Li-Fraumeni Syndrome?

Although individuals with Li-Fraumeni Syndrome (LFS), due to mutations in the TP53 gene, have a very high lifetime risk of cancer, risks of initial and subsequent cancers are not well defined. Through a group of patients with the classic form of LFS, researchers at the National Cancer Institute estimated their cancer risks. They evaluated a …

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Permanent link to this article: https://inheritedcancer.net/3nls2017/

ICARE Newsletter Summer 2016

Surveillance Among Individuals with Li-Fraumeni Syndrome (LFS): An 11 Year Follow-Up Study

Results from the original screening protocol for LFS1 were recently updated following collection of 11 years of follow-up data.2 Through this study, 89 patients with LFS were given the option of a clinical surveillance protocol consisting of a physical examination as well as frequent biochemical and imaging studies. Forty asymptomatic tumors were detected in 32% …

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Permanent link to this article: https://inheritedcancer.net/4nls2016/

ICARE Newsletter Winter 2016

Improving Our Understanding of Cancer Risks Among Individuals with Li-Fraumeni Syndrome

A recent study from France included over 400 patients with Li-Fraumeni Syndrome (all of whom had an inherited TP53 gene mutation). Cancer types among children and adults differed, with the main cancer types among children being osteosarcomas, adrenocortical carcinomas, central nervous system (CNS) tumors and soft tissue sarcomas; whereas among adults, the main cancer types …

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Permanent link to this article: https://inheritedcancer.net/5nlw2016/