Science Advances: New Brazilian study: Genetic variation increases risk of cancer

Variationin in biology refers to various differences between biological species and individuals, including morphology, physiology, biochemistry and behavior, habits and other aspects of differences, variation is the root cause of biological evolution and human breeding, including inheritable and non-genetic variationdue to the interaction between environmental influence and genotype, it is characterized by individual phenotype variation, environmental variation and genetic variation of population, which is a major factor in biological evolutionStJude a Children's Research Hospital (StJudea) Scientists at Jude Children's Research Hospital and global partners are working together to study a common tp53-R337H variant found in Brazilian descentThe researchers found that when a variant of the tumor suppressor gene XAF1 is combined with the genetic TP53-R337H mutation, the risk of cancer increasesThe findings 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, Ph.D.,stJudea's Pathology,Once clinicians know what variants they are looking for, they can better manage patients who are at higher risk of cancera 20-year-old discovery
more than 20 years ago, researchers at the University of StJudea, led by DrRaul Ribeiro, discovered the genetic variant of TP53-R337H in Brazil Pinto and her colleagues later discovered that TP53-R337H was a invasive mutation introduced during the Brazilian colonial period TP53-R337H is rare in the general population, but is common in Brazil That's the case for one in every 300 Brazilians "The TP53-R337H mutation does not explain the full risk of cancer," said Gerard Zambetti, a professor of pathology at the of St Judea, and senior author of the paper Differences between individuals carrying the TP53-R337H gene can lead to multiple cancers in some people, one for some and one for others in a genome-wide sequencing study, researchers found a mutation in the tumor suppressor gene XAF1 in a subset of the TP53-R337H mutation vector Individuals who inherited the XAF1 and TP53-R337H mutations had a greater risk of cancer than those who inherited only the TP53-R337H mutation In patients with only R337H and extended hapnotype, tumor type was distributed as a second, third, or fourth type of malignant tumor XAF1 increases the transcription altimeter of the TP53 subtype TP53 mutations are common in rare pediatric adrenal cortical cancer patients However, TP53 mutations are an important factor in many other types of cancer The understanding of XAF1 modified TP53Dev may lead to further research into whether this target can be the basis for a new treatment strategy the discovery could help adjust public health methods
researchers at the University of St Jude studied the cause of the mutation by sequencing the entire genome of individuals of Brazilian descent Partnerships built through St Jude Global are key to obtaining the samples needed to carry out this work Under the leadership of the Global Department of Paediatric Medicine, St Jude Global formed the St Judas Global Alliance Jude Global Alliance), which includes projects in Asia Pacific, Central and South America, China, Eastern and Mediterranean, Eurasia, Mexico and sub-Saharan Africa the study would not have been possible without the cooperation of partners around the world These results will have an impact on public health in Brazil and will be important for the entire pediatric cancer community "