Li–Fraumeni syndrome

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

Retrieved on: 
Friday, October 29, 2021
Woman, Cancer, Research, Organic, Prognosis, Association, TP53, International Symposium on Graph Drawing, Hospital for Sick Children, Memory, Patient, Genetics, Observations, systematical and geographical, on the herbarium collected by Professor Christian Smith, in the vicinity of the Congo, National Organization for Rare Disorders, International Agency for Research on Cancer, Li–Fraumeni syndrome, Hospital, Degenerative disease, LFS, Awareness, Syndrome, Hannover Medical School, Hospital for Sick Children (Toronto), Coronavirus Scientific Advisory Board (Turkey), Classification, Institute, NORD, JAMA Oncology, Pharmaceutical industry

LFS research contributes strongly to cancer research as most cancers in the general population involve TP53 gene malfunctions.

Key Points: 
  • LFS research contributes strongly to cancer research as most cancers in the general population involve TP53 gene malfunctions.
  • The new classification is an important step toward defining the factors that predict the unique cancer risk in individuals with LFS," said Kratz.
  • The paper honors the memory of Professor Thierry Frbourg, a major contributor to cancer genetic research and LFS Association France chapter chair, who passed away unexpectedly earlier this year.
  • LFS Association (LFSA) was founded in 2010 to help promote Li-Fraumeni syndrome research and worldwide awareness, support patients and families and further cancer research funding.

New Study Highlights the Value of Genetic Testing to Guide Clinical Management and Improve Outcomes for Epilepsy Patients

Retrieved on: 
Saturday, September 25, 2021
ARNP, CCGC, Therapy, Cancer, Genetic, CP, Epilepsy, Diagnosis, CFC, National Society of Genetic Counselors, Risk, LCGC, University of British Columbia, Behavior, Senior counsel, VUS, Private Securities Litigation Reform Act, Hospital, Conference, Patient, National Society, CGC, Health, Master of Science, Prostate cancer, MS, University, Genetic counseling, NSGC, Brain, MSN, Classification, Family, Li–Fraumeni syndrome, Annual conferences, Genetics, Growth, SAN, Research, PTC Therapeutics, Forward-looking statement, PTC, Baylor University, Doctor of Philosophy, NYSE, Genetic testing, Seizure, FACMG, Department, Pharmaceutical industry

This study underscores the importance of genetic testing for all people with epilepsy and supports the growing evidence that medical genetic testing can improve health outcomes and reduce healthcare costs.

Key Points: 
  • This study underscores the importance of genetic testing for all people with epilepsy and supports the growing evidence that medical genetic testing can improve health outcomes and reduce healthcare costs.
  • Notably, the research found that a change in clinical management once genetic results were received was reported by clinicians for nearly half of patients.
  • The full research presentation from Invitae included:
    Epilepsy genetic testing guides clinical management and helps improve patient outcomes.
  • This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding the findings and implications of the study; and the value of genetic testing to guide clinical management and improve outcomes for epilepsy patients.

City of Hope’s Precision Oncology Tumor Board Able to Identify Patients Who May Have Inherited Increased Risk for Colorectal Cancer

Retrieved on: 
Saturday, November 14, 2020
Oncology, Health, Hospitals, Genetics, Research, Science, Biotechnology, Branches of biology, Clinical medicine, Health, Applied genetics, Medical genetics, Biotechnology, Colorectal cancer, Cancer, Oncogenomics, Muir–Torre syndrome, Li–Fraumeni syndrome

City of Hope has compiled a premier precision oncology tumor board that systematically looks at malignancies to identify patients who could benefit from a lifesaving genetic evaluation for inherited susceptibility to colorectal cancer.

Key Points: 
  • City of Hope has compiled a premier precision oncology tumor board that systematically looks at malignancies to identify patients who could benefit from a lifesaving genetic evaluation for inherited susceptibility to colorectal cancer.
  • Multidisciplinary review of the DNA found in the tumors of colorectal cancer patients provides an unexpected benefit it helps doctors identify patients who inherited a predisposition for colorectal cancer.
  • Nearly 10% of the patients included in this study were diagnosed with colorectal cancer.
  • City of Hopes precision oncology tumor board used specific criteria to identify patients who should be referred for an inherited susceptibility genetic evaluation, resulting in a 24% increase in cancer genetics referrals.

Researchers, cancer patients, and philanthropists launch Count Me In, a new model of patient-partnered research to speed progress against cancer

Retrieved on: 
Thursday, October 18, 2018
Cancer, Medicine, Health, RTT, Oncology, Ovarian cancer, Colorectal cancer, Osteosarcoma, Hereditary nonpolyposis colorectal cancer, Li–Fraumeni syndrome

Count Me In allows cancer patients anywhere in the United States or Canada to easily share their medical information, personal experience, and tumor samples for genetic analysis, propelling progress against cancer.

Key Points: 
  • Count Me In allows cancer patients anywhere in the United States or Canada to easily share their medical information, personal experience, and tumor samples for genetic analysis, propelling progress against cancer.
  • One reason is that the vast majority of cancer patients receive treatment in community hospitals and clinics not at the large academic medical centers that conduct cancer research.
  • Because of this, only a fraction ever have the opportunity to contribute to research that might unlock critical insights.
  • Over the next few years, Count Me In plans to launch additional projects in all major cancer types, as well as many rare cancers, including brain cancers, osteosarcoma, pancreatic cancer, lung cancer, colorectal cancer, urinary cancer, ovarian cancer and others.