welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Genetic Predisposition to Colorectal Cancer: Where we Stand and Future Perspectives
source: World journal of gastroenterology
year: 2014
authors: Valle L
summary/abstract:The development of colorectal cancer (CRC) can be influenced by genetic factors in both familial cases and sporadic cases. Familial CRC has been associated with genetic changes in high-, moderate- and low-penetrance susceptibility genes. However, despite the availability of current gene-identification techniques, the genetic causes of a considerable proportion of hereditary cases remain unknown. Genome-wide association studies of CRC have identified a number of common low-penetrance alleles associated with a slightly increased or decreased risk of CRC. The accumulation of low-risk variants may partly explain the familial risk of CRC, and some of these variants may modify the risk of cancer in patients with mutations in high-penetrance genes. Understanding the predisposition to develop CRC will require investigators to address the following challenges: the identification of genes that cause uncharacterized hereditary cases of CRC such as familial CRC type X and serrated polyposis; the classification of variants of unknown significance in known CRC-predisposing genes; and the identification of additional cancer risk modifiers that can be used to perform risk assessments for individual mutation carriers. We performed a comprehensive review of the genetically characterized and uncharacterized hereditary CRC syndromes and of low- and moderate-penetrance loci and variants identified through genome-wide association studies and candidate-gene approaches. Current challenges and future perspectives in the field of CRC predisposition are also discussed.
organization: Catalan Institute of OncologyDOI: 10.3748/wjg.v20.i29.9828
read more full text source
expertly curated content related to this topic
-
Genetics, Inheritance and Strategies for Prevention in Populations at High Risk of Colorectal Cancer (CRC)Hereditary forms of colorectal cancer ac...
-
Study provides better understanding of sequence of genetic events in colorectal cancer premalignancyWhole-exome sequencing of both colorecta...
-
Three Novel Mutations of the APC Gene in Korean Patients with Familial Adenomatous PolyposisGermline mutations within the adenomatou...
-
Broad Phenotypic Spectrum in Familial Adenomatous Polyposis; From Early Onset and Severe Phenotypes to Late Onset of...BACKGROUND : Familial adenomatous polypo...
-
A Novel Frameshift Mutation in Exon 12 of the Adenomatous Polyposis Coli Gene in an Italian Family with Familial Ade...The adenomatous polyposis coli (APC) gen...
-
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyp...In ∼30% of families affected by colore...
-
MUTYH Gene (Protein Coding)Genetic data for MUTYH...