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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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18 hot topic(s) found with the query "Li-fraumeni syndrome"

Cancer incidence, patterns, and genotype–phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study
KC Andrade et al, Lancet Oncology, November 12, 2021 (Posted: Nov 13, 2021 6AM)

Individuals with Li-Fraumeni syndrome had a nearly 24 times higher incidence of any cancer than the general population (standardised incidence ratio 23·9; 95% CI 21·9–26·0), with the highest comparative incidence from childhood to 30 years of age. The overall cancer incidence remained 10·3 (95% CI 7·9–13·2) times higher than that of the general population after age 50 years.


Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.
Kratz Christian P et al. JAMA oncology 2021 10 (Posted: Nov 02, 2021 6PM)

Li-Fraumeni syndrome is a cancer predisposition syndrome that is associated with a high, lifelong risk of a broad spectrum of cancers that is caused by pathogenic TP53 germline variants. A definition that reflects the broad phenotypic spectrum that has evolved since the gene discovery is lacking, and mechanisms leading to phenotypic differences remain largely unknown. The goal of this study was to define the phenotypic spectrum of Li-Fraumeni syndrome and conduct phenotype-genotype associations across the phenotypic spectrum. We analyzed and classified the germline variant data set of the International Agency for Research on Cancer TP53 database that contains data on a cohort of 3034 persons from 1282 families reported in the scientific literature since 1990.


Cancer killed my mother, brother, and sisters. As the longest-living member of my family, I was determined to understand why
L Ingrassia, Stat News, July 28, 2021 (Posted: Jul 28, 2021 10AM)

There are many genetic mutations linked to cancers, but the mutation inherited by Li-Fraumeni families is especially pernicious. It’s in the p53 gene, a cancer suppressor gene known as the “guardian of the genome” because it regulates DNA repair and cell division. p53 has the remarkable power to stop potentially cancerous cells — cells we all carry — from developing into tumors. That is, when it is working properly. When there’s a mutation in the gene and it doesn’t work properly, the consequences can be tragic.


Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
T Frebourg et al, EJHG et al, May 26, 2020 (Posted: May 27, 2020 9AM)


Cancer at Baseline Screening in Patients With Li-Fraumeni Syndrome
ASCO Post, August 4, 2017 (Posted: Aug 07, 2017 9AM)


NCI study shows feasibility of cancer screening protocol for Li-Fraumeni syndrome patients
Science Mag, August 3, 2017 (Posted: Aug 07, 2017 9AM)


Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Kratz Christian P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 06 (11) e38-e45 (Posted: Aug 03, 2017 8PM)


Surveillance of Dutch Patients With Li-Fraumeni Syndrome The LiFe-Guard Study
JMWJ Rujis et al, JAMA Oncology, August 3, 2017 (Posted: Aug 03, 2017 8PM)


Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging A Meta-analysis
ML Ballinger et al, JAMA Oncology, August 3, 2017 (Posted: Aug 03, 2017 8PM)


Surveillance in Germline TP53 Mutation Carriers Utilizing Whole-Body Magnetic Resonance Imaging
ML Ballinger et al JAMA Oncology, August 3, 2017 (Posted: Aug 03, 2017 8PM)


Prevalence of Cancer at Baseline Screening in the National Cancer Institute Li-Fraumeni Syndrome Cohort
PL Mi et al, JAMA Oncology, August 3, 2017 (Posted: Aug 03, 2017 8PM)


Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition.
Valdez Jessica M et al. British journal of haematology 2017 Feb (4) 539-552 (Posted: Mar 22, 2017 10AM)


Should Genetic Testing be Offered for Children? The Perspectives of Adolescents and Emerging Adults in Families with Li-Fraumeni Syndrome.
Alderfer Melissa A et al. Journal of genetic counseling 2017 Mar (Posted: Mar 22, 2017 10AM)


Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome
MN da Cruz Formiga et al, JAMA Oncology, January 19, 2016 (Posted: Jan 20, 2017 1PM)


Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
Bougeard Gaëlle et al. J. Clin. Oncol. 2015 May 26. (Posted: Jun 11, 2015 8AM)


Surveillance recommendations for patients with germline TP53 mutations.
Ballinger Mandy L et al. Curr Opin Oncol 2015 Jul (4) 332-7 (Posted: Jun 11, 2015 8AM)


Stomach (Gastric) Cancer Prevention (PDQ®)–Health Professional Version
Brand (Posted: Jan 11, 2014 11AM)

Overview Note: Separate PDQ summaries on Stomach (Gastric) Cancer Screening, Gastric Cancer Treatment, and Levels of Evidence for Cancer Screening and Prevention Studies are also available. Who Is at Risk? People at elevated risk for gastric cancer include elderly patients with atrophic gastritis or pernicious anemia, patients with sporadic gastric adenomas,[1] familial adenomatous polyposis,[2] or hereditary nonpolyposis colon cancer,[3] and immigrant ethnic populations from countries with high rates of gastric carcinoma.[4,5] Workers in the rubber and coal industries are also at increased risk.[6] Risk factors for gastric cancer include the presence of precursor conditions such as chronic atrophic gastritis and intestinal metaplasia, pernicious anemia, and gastric adenomatous polyps. Genetic factors include a family history of gastric cancer, Li Fraumeni syndrome, and Type A blood type.[6] Environmental factors include low consumption of fruits and vegetables; consumption of salted, smoked, or poorly preserved foods; cigarette smoking; and radiation exposure.[6-8] There is consistent evidence that Helicobacter pylori infection, also known as H. pylori infection, of the stomach is strongly associated with both the initiation and promotion of carcinoma of the gastric body and antrum and of gastric lymphoma.[9-11] The International Agency for Research on Cancer classifies H. pylori infection as a cause of noncardia gastric carcinoma and gastric low-grade B-cell mucosa-associated lymphoid tissue or MALT lymphoma (i.e., a Group 1 human carcinogen).[12,13] Compared with the general population, people with duodenal ulcer disease may have a lower risk of gastric cancer.[14] Interventions for Reduction of Stomach (Gastric) Cancer Risk Smoking cessation Based on solid evidence, smoking is associated with an increased risk of stomach cancer.[15-17] The 2004 Surgeon General?s report identifies cigarette smoking as a cause of stomach cancer, with an average relative risk (RR) in former smokers of 1.2 and in current smokers of 1.6.[18] Compared with persistent smokers, the risk of stomach cancer decreases among former smokers with time since cessation. This pattern of observations makes it reasonable to infer that cigarette smoking prevention or cessation would result in a decreased risk of gastric cancer. Magnitude of Effect: A systematic review and meta-analysis showed a 60% increase in gastric cancer in male smokers and a 20% increase in gastric cancer in female smokers compared with nonsmokers.[15] Study Design: Evidence obtained from case-control and cohort studies. Internal Validity: Good. Consistency: Good. External Validity: Good. H. Pylori infection eradication Based on solid evidence, H. pylori infection is associated with an increased risk of gastric cancer. A meta-analysis of seven randomized studies, all conducted in areas of high-risk gastric cancer and all but one conducted in Asia, suggests that treatment of H. pylori may reduce gastric cancer risk (from 1.7% to 1.1%; RR = 0.65; 95% confidence interval, 0.43?0.98).[19] Only two studies assessed gastric cancer incidence as the primary study outcome, and two different studies were double blinded. It is unclear how generalizable the results may be to the North American population. In the initial report from a clinical trial, 3,365 randomized subjects were followed in an intention-to-treat analysis; it was shown that short-term treatment with amoxicillin and omeprazole reduced the incidence of gastric cancer by 39% during a period of 15 years following randomization, with similar but not statistically significant reductions for gastric cancer mortality.[20] Magnitude of Effect: Risk of cancer may be reduced; effect on cancer mortality is not known. Study Design: Randomized controlled trials of H. pylori eradication. Internal Validity: Good. Consistency: Good. External Validity: Good. Interventions With Inadequate Evidence as to Whether They Reduce the Risk of Stomach (Gastric) Cancer Diet Based on fair evidence, excessive salt intake and deficient dietary consumption of fresh fruits and vegetables are associated with an increased risk of gastric cancer. Dietary intake of vitamin C contained in vegetables, fruits, and other foods of plant origin is associated with a reduced risk of gastric cancer. Diets high in whole-grain cereals, carotenoids, allium compounds, and green tea are also associated with a reduced risk of this cancer. However, it is uncertain if changing one's diet to include more vegetables, fruits, and whole grains would reduce the risk of gastric cancer. Magnitude of Effect: Small, difficult to determine. Study Design: Cohort or case-control studies. Internal Validity: Good. Consistency: Small number of studies. External Validity: Fair (populations vary greatly in their underlying nutritional status). Cancer


Li-Fraumeni syndrome
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)



Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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