Dr. Israel Gomy graduated in Medicine at Pontificia Universidade Católica do Paraná, Curitiba, Brazil. He received his Master´s degree in Biomedical Research at Universidade de São Paulo, Ribeirão Preto, Brazil and his PhD in Oncology at Fundação Antônio Prudente, São Paulo, Brazil. Dr. Gomy is Assistant professor at Faculdades Pequeno Príncipe, Curitiba, Brazil and Assistant physician at Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Brazil.
The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.
Go to the bookPart of the book: Emerging Research and Treatments in Renal Cell Carcinoma
Colorectal cancer (CRC) heritability is determined by the complex interaction between inherited variants and environmental factors. CRC incidence rates have been increasing specially in developing countries, such as Brazil, where CRC is the third most frequent cancer in both genders. Genome‐wide association studies (GWAS), based on thousands of cases and controls typed at thousands of single nucleotide polymorphisms (SNPs), have identified several variants that associate with gastrointestinal cancer risk. Less of half of the familial risk has been elucidated through GWAS that identified common SNPs in almost exclusively European populations. Replication studies in admixed heterogeneous populations are scarce and most failed to replicate all the imputed SNPs. Population stratification by ethnic subgroups with different allele frequencies and so with different patterns of linkage disequilibrium may cause expurious associations. Here, we show the first replication study of CRC inherited susceptibility in South America and aimed to identify known SNPs, which are associated with CRC risk in European populations.
Part of the book: Genetic Polymorphisms
The risk assessment of the genetic susceptibility to cancer is the process of addressing and communicating the genetic risks to individuals and families with cancer. The recent breakthroughs of the next-generation sequencing era are adding new challenges to the precision clinical care.
Part of the book: Risk Assessment