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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7899696 | PMC |
| http://dx.doi.org/10.1053/j.gastro.2020.08.042 | DOI Listing |
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Genetics, genomics and clinical features of adenomatous polyposis.
Fam Cancer
April 2025
Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Av. Gran Via 199- 203, Hospitalet de Llobregat, 08908, Spain.
Adenomatous polyposis syndromes are hereditary conditions characterised by the development of multiple adenomas in the gastrointestinal tract, particularly in the colon and rectum, significantly increasing the risk of colorectal cancer and, in some cases, extra-colonic malignancies. These syndromes are caused by germline pathogenic variants (PVs) in genes involved in Wnt signalling and DNA repair. The main autosomal dominant adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and polymerase proofreading-associated polyposis (PPAP), caused by germline PVs in APC and the POLE and POLD1 genes, respectively.
View Article and Find Full Text PDFMono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Front Oncol
October 2022
Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
Recently, biallelic germline variants of the DNA glycosylase genes and were linked to polyposis susceptibility. Significant fractions remain without a molecular explanation, warranting searches for underlying causes. We used exome sequencing to investigate clinically well-defined adenomatous polyposis cases and families from Finland (N=34), Chile (N=21), and Argentina (N=12), all with known susceptibility genes excluded.
View Article and Find Full Text PDFClinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.
Hum Genet
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Clinical Research Centre, Copenhagen University Hospital, Amager and Hvidovre Hospital, Copenhagen, Denmark.
The genetic background of familial, late-onset colorectal cancer (CRC) (i.e., onset > age 50 years) has not been studied as thoroughly as other subgroups of familial CRC, and the proportion of families with a germline genetic predisposition to CRC remains to be defined.
View Article and Find Full Text PDFFilling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Mol Genet Genomic Med
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Unit of Functional Oncogenomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, Aviano, Italy.
Backgrounds: MUTYH-associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic MUTYH PV. The analysis focused on 26 patients with suspected MAP, belonging to 23 families.
View Article and Find Full Text PDFPOLE, POLD1, and NTHL1: the last but not the least hereditary cancer-predisposing genes.
Oncogene
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Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, 90127, Palermo, Italy.
POLE, POLD1, and NTHL1 are involved in DNA replication and have recently been recognized as hereditary cancer-predisposing genes, because their alterations are associated with colorectal cancer and other tumors. POLE/POLD1-associated syndrome shows an autosomal dominant inheritance, whereas NTHL1-associated syndrome follows an autosomal recessive pattern. Although the prevalence of germline monoallelic POLE/POLD1 and biallelic NTHL1 pathogenic variants is low, they determine different phenotypes with a broad tumor spectrum overlapping that of other hereditary conditions like Lynch Syndrome or Familial Adenomatous Polyposis.
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