Cargando…

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome

SIMPLE SUMMARY: Cancer is the second leading cause of death worldwide. Serrated polyposis syndrome (SPS) is characterized by the presence of serrated lesions in the colon and a higher colorectal cancer (CRC) risk. An important part of risk is due to the alteration of certain genes, which will be tra...

Descripción completa

Detalles Bibliográficos
Autores principales:	Soares de Lima, Yasmin, Arnau-Collell, Coral, Díaz-Gay, Marcos, Bonjoch, Laia, Franch-Expósito, Sebastià, Muñoz, Jenifer, Moreira, Leticia, Ocaña, Teresa, Cuatrecasas, Miriam, Herrera-Pariente, Cristina, Carballal, Sabela, Moreno, Lorena, Díaz de Bustamante, Aránzazu, Castells, Antoni, Bujanda, Luis, Cubiella, Joaquín, Rodríguez-Alcalde, Daniel, Balaguer, Francesc, Castellví-Bel, Sergi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927050/ https://www.ncbi.nlm.nih.gov/pubmed/33672345 http://dx.doi.org/10.3390/cancers13040929

Ejemplares similares

Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing
por: Toma, Claudio, et al.
Publicado: (2019)

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
por: Arnau-Collell, Coral, et al.
Publicado: (2020)

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome
por: Bonjoch, Laia, et al.
Publicado: (2023)

Germline mutations in WNK2 could be associated with serrated polyposis syndrome
por: Soares de Lima, Yasmin, et al.
Publicado: (2023)

Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer
por: Toma, Claudio, et al.
Publicado: (2019)

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer
por: Esteban-Jurado, Clara, et al.
Publicado: (2016)

Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer
por: Herrera-Pariente, Cristina, et al.
Publicado: (2021)

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer
por: Díaz-Gay, Marcos, et al.
Publicado: (2019)

POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer
por: Esteban-Jurado, Clara, et al.
Publicado: (2017)

Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers
por: Golubicki, Mariano, et al.
Publicado: (2021)

The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management
por: Leoz, Maria Liz, et al.
Publicado: (2015)

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
por: Esteban-Jurado, Clara, et al.
Publicado: (2015)

Clinical, Molecular and Genetic Characteristics of Early Onset Gastric Cancer: Analysis of a Large Multicenter Study
por: Pocurull, Anna, et al.
Publicado: (2021)

Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study
por: Bleijenberg, Arne GC, et al.
Publicado: (2020)

Identification of Lynch Syndrome Carriers among Patients with Small Bowel Adenocarcinoma
por: Sánchez, Ariadna, et al.
Publicado: (2021)

Serrated Polyposis: An Enigmatic Model of Colorectal Cancer Predisposition
por: Rosty, Christophe, et al.
Publicado: (2011)

Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy
por: Llach, Joan, et al.
Publicado: (2020)

Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
por: Díaz-Gay, Marcos, et al.
Publicado: (2018)

Serrated Polyposis Syndrome: Increasing Awareness and Importance
por: Song, Heeyah, et al.
Publicado: (2020)

Germline variant testing in serrated polyposis syndrome
por: Murphy, Aisling, et al.
Publicado: (2022)

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome
por: Golubicki, Mariano, et al.
Publicado: (2020)

Frequency of serrated polyposis syndrome recognition by community endoscopists
por: McWhinney, Connor D., et al.
Publicado: (2023)

RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps
por: van Herwaarden, Yasmijn J, et al.
Publicado: (2020)

CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications
por: Franch-Expósito, Sebastià, et al.
Publicado: (2020)

Polyps and Colorectal Cancer in Serrated Polyposis Syndrome: Contribution of the Classical Adenoma-Carcinoma and Serrated Neoplasia Pathways
por: van Toledo, David E. F. W. M., et al.
Publicado: (2023)

Serrated polyposis syndrome and colonoscopic surveillance: who is it safe to follow?
por: Parry, S, et al.
Publicado: (2012)

A study of cancer risks in relatives of patients with serrated polyposis
por: Win, AK, et al.
Publicado: (2012)

Impact of changing diagnostic criteria on the diagnosis of serrated polyposis syndrome
por: McWhinney, Connor D., et al.
Publicado: (2023)

LINE-1 hypomethylation is neither present in rectal aberrant crypt foci nor associated with field defect in sporadic colorectal neoplasia
por: Quintanilla, Isabel, et al.
Publicado: (2014)

Long-Term Incidence of Advanced Colorectal Neoplasia in Patients with Serrated Polyposis Syndrome: Experience in a Single Academic Centre
por: Rodríguez-Alcalde, Daniel, et al.
Publicado: (2021)

Clinicopathological Characteristics of Serrated Polyposis Syndrome in Korea: Single Center Experience
por: Kim, Hyung-Keun, et al.
Publicado: (2015)

Serrated Polyposis Syndrome in a Single-Center 10-Year Experience
por: Kim, Hyun Young
Publicado: (2018)

Acetic acid spray contribution in the endoscopic diagnosis of serrated polyposis syndrome
por: Popoutchi, Pedro, et al.
Publicado: (2018)

Importance of sessile serrated lesions in a patient with familial adenomatous polyposis
por: Watanabe, Motoki, et al.
Publicado: (2021)

Serrated polyps and polyposis of the colon: a brief review for surgeon endoscopists
por: Hyun, Eric, et al.
Publicado: (2021)

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)
por: Horpaopan, Sukanya, et al.
Publicado: (2017)

GeMSTONE: orchestrated prioritization of human germline mutations in the cloud
por: Chen, Siwei, et al.
Publicado: (2017)

Imatinib: a new chemopreventive option in adenomatous polyposis?
por: Tobon, Angelica, et al.
Publicado: (2020)

Differentially Deregulated MicroRNAs as Novel Biomarkers for Neoplastic Progression in Ulcerative Colitis
por: Quintanilla, Isabel, et al.
Publicado: (2022)

Clinical predictors for sessile serrated polyposis syndrome: A case control study
por: Wu, Yang, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_proilb2tf93edkkdlmo22q48io