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Article

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.

Familial cancer - 1 Mar 2024

Chan James M, Clendenning Mark, Joseland Sharelle, Georgeson Peter, Mahmood Khalid, Joo Jihoon E, Walker Romy, Como Julia, Preston Susan, Chai Shuyi Marci, Chu Yen Lin, Meyers Aaron L, Pope Bernard J, Duggan David, Fink J Lynn, Macrae Finlay A, Rosty Christophe, Winship Ingrid M, Jenkins Mark A, Buchanan Daniel D

Abstract excerpt

Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Cancer Type X (FCCTX), remains poorly understood. We describe a multi-generation CRC-affected family segregating pathogenic variants in both BRCA1, a gene associated with breast and ovarian cancer and RNF43, a gene associated with Serrated Polyposis Syndrome (SPS). A single family out of 105...

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Topics

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Share to BRCA1 Protein
Share to Colorectal Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to RNF43 gene

Share to Genetic Predisposition to Disease

Share to Germ-Line Mutation

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Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 38063999
DOI: 10.1007/s10689-023-00351-2
PMCID: PMC10869370

Genes

BRCA1
RNF43
BRAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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