ReviewMutation research2010
Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.
Review in Mutation research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 63 citations in OpenAlex.
- Identification of a novel CNV at theFrontiers in molecular biosciences · 2023Article
- Article
- Article
- Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer.Diagnostics (Basel, Switzerland) · 2021Article
- Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.Genes · 2020Review
- Genetic predisposition in pediatric oncology.Medicine and pharmacy reports · 2020Review
- Article
- PathogenicMedicina (Kaunas, Lithuania) · 2019Article
- Clinical Impact of Mismatch Repair Protein Testing on Outcome of Early Staged Colorectal Carcinomas.Journal of gastrointestinal cancer · 2018Article
- Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam.BMC medical genetics · 2018Article
- The changing landscape of Lynch syndrome due to PMS2 mutations.Clinical genetics · 2018Review
- Article
- Inactivation of MSH3 by promoter methylation correlates with primary tumor stage in nasopharyngeal carcinoma.International journal of molecular medicine · 2017Article
- Tumor suppressor genes in familial adenomatous polyposis.Gastroenterology and hepatology from bed to bench · 2017Review
- Current status of familial gastrointestinal polyposis syndromes.World journal of gastrointestinal oncology · 2015Review
- Nuclear signaling from cadherin adhesion complexes.Current topics in developmental biology · 2015Review
- TALEN-mediated apc mutation in Xenopus tropicalis phenocopies familial adenomatous polyposis.Oncoscience · 2015Article
- The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.The application of clinical genetics · 2015Review
- Molecular classification of colorectal carcinomas: the genotype-to-phenotype relation.World journal of gastroenterology · 2013Review
- Distinct requirements within the Msh3 nucleotide binding pocket for mismatch and double-strand break repair.Journal of molecular biology · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
With improvements to DNA sequencing technologies, including the advent of massively parallel sequencing to perform "deep sequencing" of tissue samples, the ability to determine all of the nucleotide variations in a tumor becomes a possibility. This information will allow us to more fully understand the heterogeneity within each tumor, as well as to identify novel genes involved in cancer development. However, the new challenge that arises will be to interpret the pathogenic significance of each genetic variant. The enormity and complexity of this challenge can be demonstrated by focusing on just the genes involved in the hereditary colon cancer syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis coli (HNPCC). The genes responsible for each disease were identified almost two decades ago -APC for FAP and the MMR genes for HNPCC - and a large number of germline variations have been identified in these genes in hereditary cancer patients. However, relating the effect of an individual genotype to phenotype is not always straightforward. This review focuses on the roles of the APC and MMR genes in tumor development and the work that has been done to relate different variants in each gene to functional aberrations and ultimately tumorigenesis. By considering the work that has already been done on two well-defined diseases with clear genetic associations, one can begin to understand the challenges that lie ahead as new genes and gene mutations are discovered through tumor sequencing.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.