Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

• Published in: Scientific reports Vol. 9; no. 1; pp. 9814 - 10
• Main Authors: Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Fernández-Aceñero, María Jesús, Grolleman, Judith, Poves, Carmen, Llovet, Patricia, Tapial, Sandra, García-Barberán, Vanesa, Sanz, Julián, Pérez-Segura, Pedro, de Voer, Richarda M., Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad, Garre, Pilar
• Format: Journal Article Web Resource
• Language: English
• Published: London Nature Publishing Group UK 08.07.2019; Nature Publishing Group
• Subjects: 45/22; 45/23; 45/29; 45/47; 45/77; 45/90; 631/208/2489/1512; 631/208/68; 692/4028/67/1504/1885; Adenoma; Adenomatous Polyposis Coli - genetics; Adult; Age; Aged; Aged, 80 and over; Cancer genetics; Cohort Studies; Colorectal cancer; DNA Mutational Analysis - methods; Etiology; Family medical history; Female; Gene Expression Profiling - methods; Gene Expression Regulation, Neoplastic; Gene Regulatory Networks; Genes; Genetic counseling; Genetic diversity; Genetic Predisposition to Disease; Genetic screening; Genetic testing; Genetic variance; Genetics & genetic processes; Germ-Line Mutation; Génétique & processus génétiques; Heritability; Heterogeneity; High-Throughput Nucleotide Sequencing; Human health sciences; Humanities and Social Sciences; Humans; Laboratories; Life sciences; Male; Middle Aged; multidisciplinary; Mutation; Next-generation sequencing; Oncologie; Oncology; Patients; Pedigree; Penetrance; Polyps; Ribonucleic acid; RNA; Science; Science (multidisciplinary); Sciences de la santé humaine; Sciences du vivant; Sequence Analysis, DNA; Sequence Analysis, RNA; Spain; Splicing; Tumors; Spain

Attenuated adenomatous polyposis (AAP) is a heterogeneous syndrome in terms of clinical manifestations, heritability and etiology of the disease. Genetic heterogeneity and low penetrance alleles are probably the best explanation for this variability. Certainly, it is known that APC and MUTYH are hig...