Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer. Molecular characterization of the genes that are involved in these syndromes was useful in the development of genetic testing for diagnosis and also facilitated understanding of the genetic basis of GI cancers. Current knowledge on the genetics of GI cancers with emphasis on heritability and germ line mutations forms the basis of the present review.
Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome
Molecular genetics and clinical-pathology features of hereditary nonpolyposis colorectal carcinoma (Lynch syndrome): historical journey from pedigree anecdote to molecular genetic confirmation
Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters
Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations
Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers
GI polyposis and glycogenic acanthosis of the esophagus associated with PTEN mutation positive Cowden syndrome in the absence of cutaneous manifestations
Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer
Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations
MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium
Short report: the mediator effect of meaning in life in the relationship between self-acceptance and psychological wellbeing among gastrointestinal cancer patients
Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
Evaluation of the effect of 2-(2,4-dihydroxyphenyl)-4H -benzofuro[3,2-d ][1,3]thiazin-4-one on colon cells and its anticancer potential
Relationships Between Meaning in Life, Dispositional Mindfulness, Perceived Stress, and Psychological Symptoms Among Chinese Patients With Gastrointestinal Cancer
Meaningful relationships as a driving force in the experience of parents of a child living with polyposis conditions.
Adenomatous Polyposis Coli
Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.