Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

SETD6 dominant negative mutation in familial colorectal cancer type X.

Human molecular genetics - 15 Nov 2017

Martín-Morales Lorena, Feldman Michal, Vershinin Zlata, Garre Pilar, Caldés Trinidad, Levy Dan

Abstract excerpt

Familiar colorectal cancer type X (FCCTX) comprises families that fulfill the Amsterdam criteria for hereditary non-polyposis colorectal cancer, but that lack the mismatch repair deficiency that defines the Lynch syndrome. Thus, the genetic cause that increases the predisposition to colorectal and other related cancers in families with FCCTX remains to be elucidated. Using whole-exome sequencing, we have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Base Sequence
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Frameshift Mutation

Share to NF-kappa B

Share to Pedigree

Share to Protein Methyltransferases

Source

Identifiers

PMID: 28973356
DOI: 10.1093/hmg/ddx336

Genes

SETD6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

SETD6 dominant negative mutation in familial colorectal cancer type X.PMID 28973356Read ↗

Clinical and histopathologic characterization of SETD2-mutated colorectal cancer.Semantic proximity Read ↗

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer.Semantic proximity Read ↗

Analysis of CCN6 in the Context of Human Health and Disease: Current Insights and Unexplored Frontiers.Semantic proximity Read ↗

Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series.Semantic proximity Read ↗

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.Semantic proximity Read ↗

Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report.Semantic proximity Read ↗

A Novel Deleterious Variant and a Founder Effect in Four New Families of MBD4-Associated Neoplasia Syndrome Recruited Over a Period of 20 Years.Semantic proximity Read ↗

DUSP6 regulates Notch1 signalling in colorectal cancerSemantic proximity Read ↗

Inherited KDM6AA649T facilitates tumor-immune escape and exacerbates colorectal signet-ring cell carcinoma outcomes.Semantic proximity Read ↗

Thirty-nine-year-old with familial colon cancer, and variant of undetermined significance in MSH6.Semantic proximity Read ↗

The most common RNF43 mutant G659Vfs*41 is fully functional in inhibiting Wnt signaling and unlikely to play a role in tumorigenesis.Semantic proximity Read ↗

Mutation and expression alterations of histone methylation-related NSD2, KDM2B and SETMAR genes in colon cancers.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.