New findings: A genetic mutation unique to Brazilians increases their risk of cancer.

Introduction: genetic variation refers to the difference in DNA level between different individuals in the same gene pool on the basis of heredity, also known as "molecular variation", which is a qualitative or quantitative description of genetic differences between individuals of the same species.heredity and variation are not only the common phenomena in the biological world, but also the basis of species formation and biological evolution.variation generally refers to the differences between species and individuals, including morphological, physiological, biochemical, behavioral and behavioral differences. Variation is the root of biological evolution and human breeding, including heritable and non heritable variations.due to the interaction between environmental factors and genotypes, individual phenotypic variation, environmental variation and genetic variation of the population are the main factors of biological evolution.scientists from St. Jude Children's research hospital and global partners are working on a common tp53-r337h variant found in Brazilian descendants.the researchers found that when a variant of the tumor suppressor gene XAF1 is combined with a genetic tp53-r337h mutation, the risk of cancer is increased.the results of the study were published online June 24 in the journal science advances. "We expect these results to have a significant impact on public health," said Emilia Pinto, PhD, pathology, St. Juda and co-author of the study.once clinicians know what variants to look for, they can better manage patients with higher cancer risk.a 20-year discovery, researchers at the University of St. Juda, led by Dr. Raul Ribeiro, discovered a genetic variant of tp53-r337h in Brazilians more than 20 years ago.Pinto and her colleagues then found that tp53-r337h was a creative mutation introduced during the colonial period of Brazil.tp53-r337h is rare in the general population, but common in Brazil.one out of every 300 Brazilians is.Gerard zamberti, Professor of pathology in St. Juda and senior author of the paper, said, "the tp53-r337h mutation does not explain the overall cancer risk.differences between individuals carrying the tp53-r337h gene may lead to multiple cancers in some people, one in some, and none at all."in the whole genome sequencing study, the researchers found a mutation of XAF1 in a subset of tp53-r337h mutation vector.individuals with XAF1 and tp53-r337h mutations had a higher risk of cancer than those with only tp53-r337h mutations.in patients with only r337h and extended haplotypes, the distribution of tumor types as second, third or fourth malignancies was observed. XAF1 increases the transcriptional activity of TP53 subtype. TP53 mutations are common in rare pediatric patients with adrenocortical carcinoma. however, TP53 mutations are an important factor in many other types of cancer. the understanding of XAF1 modifying tp53dev may promote further research on whether this target can become the basis of new therapeutic strategies. this finding helps to adjust public health methods. Researchers at the University of St. Juda studied the causes of this variation by sequencing the whole genome of individuals of Brazilian origin. the partnership established through St. Juda global is the key to obtaining the samples needed to carry out this work. under the leadership of the global pediatric medicine department, St. Jude global alliance has been established, including projects in Asia Pacific, central and South America, China, East and Mediterranean, Eurasia, Mexico and sub Saharan Africa. this study would not have been completed without the cooperation of partners from all over the world. these results will have an impact on public health in Brazil and are important for the pediatric cancer community as a whole. "reference: [1] [2] recommended reading: anti epidemic, translational medicine network content team report:" willow blade magazine "from 21 countries 157436 people's research shows that air pollution is the main cause of cardiovascular disease [essence review] Professor Zheng Limin shared the expression, regulation and clinical significance of PD-L1 in liver cancer tissue. Now: high acid food will increase the risk of recurrence and death of breast cancer in people with a history of smoking! A metabolic enzyme inhibits the growth and proliferation of hepatocellular carcinoma cells