The multiple colorectal adenoma phenotype and MYH, a base excision repair gene.

The multiple colorectal adenoma phenotype and MYH, a base excision repair gene.

We summarize the genetic and clinical features of the colorectal adenomas and cancers that occur in MYH-associated polyposis (MAP). MAP results from biallelic germline mutations in the base excision repair gene, mutY homologue (MYH). MAP has a phenotype that is often indistinguishable from classical...

Full beskrivning

Bibliografiska uppgifter
Huvudupphovsmän:	Lipton, L, Tomlinson, I
Materialtyp:	Journal article
Språk:	English
Publicerad:	2004

Liknande verk

Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
av: Sieber, O, et al.
Publicerad: (2003)

Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.
av: Enholm, S, et al.
Publicerad: (2003)

Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
av: Thirlwell, C, et al.
Publicerad: (2007)

Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers.
av: Halford, SE, et al.
Publicerad: (2003)

Contribution of the CHEK2 1100delC variant to risk of multiple colorectal adenoma and carcinoma.
av: Lipton, L, et al.
Publicerad: (2003)

Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype.
av: Lipton, L, et al.
Publicerad: (2003)

Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.
av: Cheng, T, et al.
Publicerad: (2014)

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas.
av: Beck, N, et al.
Publicerad: (1997)

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.
av: Fearnhead, N, et al.
Publicerad: (2004)

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.
av: Will, O, et al.
Publicerad: (2007)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas
av: Sieber, O, et al.
Publicerad: (2002)

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
av: Sieber, O, et al.
Publicerad: (2002)

A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia
av: Yasuhiro Ikawa, et al.
Publicerad: (2024-02-01)

Same MYH7 gene mutation but different phenotypes of cardiomyopathy in one family
av: Ting Liu, et al.
Publicerad: (2023-10-01)

Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway.
av: Lipton, L, et al.
Publicerad: (2003)

Multiple colorectal adenomas in Lynch syndrome
av: Ayushi Jain, et al.
Publicerad: (2022-12-01)

The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas.
av: Hao, X, et al.
Publicerad: (2002)

MYH7 Genotype–Phenotype Correlation in a Cohort of Finnish Patients
av: Teemu Vepsäläinen, et al.
Publicerad: (2022-03-01)

MYH9 gene mutations associated with bleeding
av: Anna Savoia, et al.
Publicerad: (2017-04-01)

Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility
av: Jinhong Zhu, et al.
Publicerad: (2018-07-01)

Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications
av: Romy Walker, et al.
Publicerad: (2025-02-01)

Myh deficiency enhances intestinal tumorigenesis in multiple intestinal neoplasia (ApcMin/+) mice.
av: Sieber, O, et al.
Publicerad: (2004)

A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities
av: Svetlana I. Safiullina, et al.
Publicerad: (2022-11-01)

Nonmuscle myosin 2 proteins encoded by Myh9, Myh10, and Myh14 are uniquely distributed in the tubular segments of murine kidney
av: Karla L. Otterpohl, et al.
Publicerad: (2017-12-01)

MACROTROMBOCITOPENIA RELACIONADA À MUTAÇÃO GENE MYH9
av: AA Araujo, et al.
Publicerad: (2023-10-01)

APC mutations are sufficient for the growth of early colorectal adenomas.
av: Lamlum, H, et al.
Publicerad: (2000)

Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
av: Nicolas N. Madigan, et al.
Publicerad: (2021-04-01)

Polymorphisms of nucleotide excision repair genes associated with colorectal cancer risk: Meta-analysis and trial sequential analysis
av: Chuncheng Yi, et al.
Publicerad: (2022-10-01)

MYH knockdown in pancreatic cancer cells creates an exploitable DNA repair vulnerability
av: James Ephraums, et al.
Publicerad: (2025-03-01)

Nucleotide excision repair genes shaping embryonic development
av: Sofia J. Araújo, et al.
Publicerad: (2019-10-01)

Regulation of the base excision repair pathway
av: Fletcher, S, et al.
Publicerad: (2017)

Base excision repair and the role of <it>MUTYH</it>
av: Kairupan Carla, et al.
Publicerad: (2007-12-01)

MYH9 nephropathy
av: Taehoon Oh, et al.
Publicerad: (2015-03-01)

Cautionary note on the use of Caenorhabditis elegans to study muscle phenotypes caused by mutations in the human MYH7 gene
av: Alejandro Gil-Gálvez, et al.
Publicerad: (2020-06-01)

Phenotype variation of hypertrophic cardiomyopathy in carriers of the p.Arg870His pathogenic variant in the MYH7 gene
av: A. N. Kucher, et al.
Publicerad: (2022-10-01)

Bottom-up histogenesis of colorectal adenomas: origin in the monocryptal adenoma and initial expansion by crypt fission.
av: Preston, S, et al.
Publicerad: (2003)

Regression of colorectal adenoma
av: Subin Song, et al.
Publicerad: (2023-07-01)

Synchronous colorectal adenomas
av: Radovanović-Dinić Biljana, et al.
Publicerad: (2010-01-01)

MUTYH-associated polyposis (MAP), the syndrome implicating Base Excision Repair in inherited predisposition to colorectal tumors
av: Tiziana eVenesio, et al.
Publicerad: (2012-08-01)

Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.
av: Tomlinson, I, et al.
Publicerad: (2012)