Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
about
Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohortA novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.Loss of MLH1 sensitizes colon cancer cells to DNA-PKcs inhibitor KU60648.Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.Exome and genome sequencing for inborn errors of immunity.Attenuated adenomatous polyposis of the large bowel: Present and future.Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.The Changing Landscape of Lynch Syndrome due to PMS2 Mutations.NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?Inflammation-associated microsatellite alterations: Mechanisms and significance in the prognosis of patients with colorectal cancer.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.Microsatellite Instability Pathway and EMAST in Colorectal Cancer.Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes.Advances in therapeutic targeting of the DNA damage response in cancer.Molecular Diagnostics in Clinical OncologyConstitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies
P2860
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P2860
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 27 July 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Exome Sequencing Identifies Bi ...... lorectal Adenomatous Polyposis
@en
Exome Sequencing Identifies Bi ...... orectal Adenomatous Polyposis.
@nl
type
label
Exome Sequencing Identifies Bi ...... lorectal Adenomatous Polyposis
@en
Exome Sequencing Identifies Bi ...... orectal Adenomatous Polyposis.
@nl
prefLabel
Exome Sequencing Identifies Bi ...... lorectal Adenomatous Polyposis
@en
Exome Sequencing Identifies Bi ...... orectal Adenomatous Polyposis.
@nl
P2093
P2860
P50
P1476
Exome Sequencing Identifies Bi ...... lorectal Adenomatous Polyposis
@en
P2093
Andreas Laner
Angela Brieger
Aylar Tafazzoli
Dietlinde Stienen
Elke Holinski-Feder
Gabriela Möslein
Giancarlo Marra
Glen Kristiansen
Holger Thiele
Inga Hinrichsen
P2860
P304
P356
10.1016/J.AJHG.2016.06.015
P407
P577
2016-07-27T00:00:00Z