Tag: TP53

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/icare-featured-video-august-2022total-body-mri-screening-protocol-in-li-fraumeni-syndrome-patients/

ICARE Social Media Post May 2022

Breast Cancer Genes in Women of African Ancestry

Permanent link to this article: https://inheritedcancer.net/post51722/

ICARE Social Media Post February 2022

Breast Cancer Characteristics Across Genes


Permanent link to this article: https://inheritedcancer.net/post20122/

ICARE Social Media Post December 2021

Li-Fraumeni Syndrome Cancer Risks

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

ICARE Social Media Post August 2021

Metastatic Breast Cancer Genes

For additional information, read the Journal of Clinical Oncology article at the link below 👇 https://ascopubs.org/doi/10.1200/JCO.20.01200

Permanent link to this article: https://inheritedcancer.net/post82021/

ICARE Social Media Post November 2020

ASCO Guideline Updates: Breast Cancer

The American Society of Clinical Oncology (ASCO) published updated guidelines for the management of hereditary breast cancer for the following gene carriers:   𝘽𝙍𝘾𝘼1/2 • Consider breast-conserving therapy • Consider nipple-sparing mastectomy, if medically appropriate • Advanced breast cancer: ⫸ PARP inhibitors (olaparib, talazoparib) preferred over non-platinum single agent chemotherapy ⫸ Platinum agents are recommended …

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Permanent link to this article: https://inheritedcancer.net/post112020/

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 Publication September 2020

Strategies to enhance identification of hereditary breast cancer gene carriers

No abstract available Reid S, et al. Strategies to enhance identification of hereditary breast cancer gene carriers. Expert Rev Mol Diagn. 2020 Sep; 20(9):861-865. Epub 2020 Sep 11. PMID: 32856489. 

Permanent link to this article: https://inheritedcancer.net/pub91120/

ICARE Social Media Post July 2020

BRCA1/2 and Other Gene Carriers with Breast Cancer Don’t Always Receive Recommended Treatment

BRCA1/2 and other gene mutation carriers with early stage breast cancer are not always receiving cancer treatment as recommended by national guidelines. Even though more and more people have been tested for hereditary cancer over the years, using this information accurately to guide treatment has not been as successful. These findings highlight the need for …

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Permanent link to this article: https://inheritedcancer.net/post71020/

ICARE Newsletter Winter 2020

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic

There were significant updates and restructuring of the guidelines, with some highlights included below: Substantial reorganization of the guidelines as follows: Now organized by organ site, rather than primarily by certain high penetrance genes Focused efforts to simplify genetic testing criteria Only one flow diagram included, to outline the ‘genetic testing process’ Following scenarios now …

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Permanent link to this article: https://inheritedcancer.net/1nlw2020/

ICARE Social Media Post December 2019

Updates to National Comprehensive Cancer Network (NCCN) Genetic/Familial Breast, Ovarian, and Pancreatic Guidelines (V1.2020)

We are excited to share the latest version of the NCCN Genetic/Familial Breast, Ovarian and Pancreatic Guidelines (V1.2020), which were just updated. Some of the changes made include: PALB2 was added as a high penetrance gene (similar to BRCA1, BRCA2, CDH1, PTEN and TP53) It is appropriate to consider risk reducing mastectomy for cancer risk management …

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Permanent link to this article: https://inheritedcancer.net/post12419/

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 Summer 2018

New Data to Suggest Additional Genes Associated with Breast and Ovarian Cancer

A recent study reported on cancer risks among over 10,000 cancer patients across the United States who had genetic testing. Findings suggest breast cancer risks were associated with ATM, CHEK2, and PALB2, as expected; but an association was also found with MSH6 (in line with other recently published data, as outlined in another article in …

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Permanent link to this article: https://inheritedcancer.net/7nls2018/

ICARE Newsletter Winter 2018

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

(Version 1.2018, posted Oct. 3, 2017) Metastatic prostate cancer was added as an indication for evaluation and testing for the BRCA1 and BRCA2 genes Among BRCA1, BRCA2, TP53 and PTEN carriers, women between ages 25-29 may consider having an annual mammogram with consideration of tomosynthesis if a breast MRI is not available. Among female BRCA2 …

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Permanent link to this article: https://inheritedcancer.net/1nlw2018/

ICARE Newsletter Winter 2018

Study Suggests Inherited Cancer Genes Are Important in Pancreatic Cancer

In a recent study which included over 800 patients with pancreatic ductal cancer, inherited cancer gene mutations were found in a much higher proportion than expected. Almost 5% of these patients had mutations identified in inherited cancer genes, the majority of which were in genes thought to be associated with pancreatic cancer (including BRCA2, ATM, …

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Permanent link to this article: https://inheritedcancer.net/9nlw2018/

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 2017

Breast and Ovarian Cancer Associations for Genes Tested Through Multi-Gene Panels

As testing for multiple genes at the same time (“multi-gene panel testing”) has become increasingly available with tremendous advances in genetic testing technology, it has become critical to evaluate and refine cancer associations and levels of risk for many of these genes now tested. Through a commercial laboratory database of almost 100,000 results of multi-gene …

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Permanent link to this article: https://inheritedcancer.net/2nls2017/

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/

ICARE Newsletter Summer 2015

2015 NCCN Clinical Practice Guideline Update

Breast and Ovarian Management Based on Genetic Test Resultsa   Recommend Breast MRIc (>20% lifetime risk of breast cancerd) Recommend Risk-reducing salpingo-oophorectomy Discuss Option of Risk-reducing mastectomy Intervention warranted based on gene and/or risk level ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53 BRCA1, BRCA2, Lynch syndromee BRCA1, BRCA2, CDH1, PTEN, TP53 Insufficient evidence …

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Permanent link to this article: https://inheritedcancer.net/1nls2015/