CD47 – Colorectal Cancer

The association between CD47 (HGNC:1682) and colorectal cancer (MONDO_0005575) is supported by large-scale genetic studies in diverse populations. Two independent studies—a genome‑wide association study in a Singapore Chinese cohort (PMID:29079706) and an association analysis from a Northern German cohort (PMID:23011546)—identified significant copy number and single nucleotide variant associations that implicate CD47 as a risk modifier in sporadic colorectal cancer.

From a genetic standpoint, the evidence is compelling despite the complex inheritance pattern characteristic of colorectal cancer. The GWAS involved over 1000 patients (PMID:29079706), and the association study encompassed 613 cases (PMID:23011546). Although detailed segregation data is limited due to the multifactorial nature of the disease, the large sample size and replication across independent cohorts provide robust support for the association.

While no specific coding mutation in CD47 meeting the strict c. HGVS criteria is reported in these studies, the genetic evidence is further bolstered by statistical associations with both copy number variants and regulatory SNPs. Given the absence of a valid c. variant in the available data, the variant list remains empty in this context.

Experimental data indicate a functional role for CD47 in modulating phagocytosis and immune checkpoint activity. Studies have shown that alterations in CD47 expression affect immune evasion mechanisms in tumors, as evidenced by assays using engineered SIRP variants that enhance CD47 binding (PMID:34315811). This functional evidence provides a plausible biological mechanism linking CD47 activity with colorectal tumorigenesis.

There is little conflicting evidence reported regarding the role of CD47 in colorectal cancer. Although additional work is necessary to delineate its contribution within the complex genetic landscape of the disease, the current genetic and functional data converge to support a strong association.

In conclusion, the combined genetic association data and supporting functional studies underpin a strong connection between CD47 and colorectal cancer. This link has significant implications for diagnostic decision‑making, commercial applications, and further research into targeted therapeutic strategies. Key take‑home message: CD47 represents a promising biomarker for colorectal cancer risk and a potential target for immunotherapeutic intervention.

References

• Journal of Medical Genetics • 2018 • Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk PMID:29079706
• International Journal of Colorectal Disease • 2013 • Association study identifying polymorphisms in CD47 and other extracellular matrix pathway genes as putative prognostic markers for colorectal cancer PMID:23011546
• Molecular Pharmacology • 2021 • Selection and Characterization of FD164, a High-Affinity Signal Regulatory Protein Variant with Balanced Safety and Effectiveness, from a Targeted Epitope Mammalian Cell-Displayed Antibody Library PMID:34315811

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