Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis - Scorecard - MDSpire

Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis

  • By

  • Claire Palles

  • Luke Freeman-Mills

  • Edward Arbe-Barnes

  • Nathalie Feeley

  • Laura Chegwidden

  • Helen Curley

  • Sara Galavotti

  • Connor Woolley

  • Jeremy Cheadle

  • Dmitri Mouradov

  • Oliver Sieber

  • Silvia Salatino

  • Steve Thorn

  • Anshita Goel

  • Juan Fernandez-Tajes

  • Sulochana Omwenga

  • Sujata Biswas

  • Timothy Maughan

  • Simon J Leedham

  • S:CORT Consortium

  • UK Colorectal Cancer Genomics Consortium

  • CORGI Consortium

  • WGS500 Consortium

  • Viktor Hendrik Koelzer

  • Lai Mun Wang

  • Roland Arnold

  • James Edward East

  • Ian Tomlinson

  • July 1, 2026

  • 0 min

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Clinical Scorecard: Differential Genotype-Phenotype Correlations in Germline versus Somatic RNF43 Loss-of-Function Mutations: Insights into the Genetic Mechanisms Underlying Colorectal Tumor Development

At a Glance

CategoryDetail
Condition
Key Mechanisms
Target PopulationIndividuals with familial colorectal cancer and/or multiple polyps.
Care Setting

Key Highlights

  • CRC risks

Guideline-Based Recommendations

Diagnosis

    Management

      Monitoring & Follow-up

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      Risks

        Patient & Prescribing Data

        Expand on treatment options based on RNF43 mutation status.

        Clinical Best Practices

        • recommendations

        Related Resources & Content

        Original Source(s)

        Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis

        • by Claire Palles, Luke Freeman-Mills, Edward Arbe-Barnes, Nathalie Feeley, Laura Chegwidden, Helen Curley, Sara Galavotti, Connor Woolley, Jeremy Cheadle, Dmitri Mouradov, Oliver Sieber, Silvia Salatino, Steve Thorn, Anshita Goel, Juan Fernandez-Tajes, Sulochana Omwenga, Sujata Biswas, Timothy Maughan, Simon J Leedham, S:CORT Consortium, UK Colorectal Cancer Genomics Consortium, CORGI Consortium, WGS500 Consortium, Viktor Hendrik Koelzer, Lai Mun Wang, Roland Arnold, James Edward East, Ian Tomlinson

        • July 1, 2026

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