ABI3BP – Colorectal Cancer

In a study of a patient with serrated polyposis syndrome (SPS), exome sequencing of eleven early serrated polyps revealed a rare deleterious missense variant in ABI3BP. Although well‐established somatic mutations in BRAF and KRAS were also identified, the ABI3BP variant was noted as potentially deleterious in SPS lesions (PMID:29213343). The analysis was based on a single SPS patient with multiple polyps, and no extended segregation or recurrence data were available. These observations place the ABI3BP–colorectal cancer association in the Limited range due to the small number of probands and absence of familial segregation or multiple independent validations (PMID:29213343).

Functional assessments remain sparse with no extensive in vitro or in vivo modeling reported to further substantiate a pathogenic role for ABI3BP in colorectal neoplasia. The reliance on in silico predictions and the isolated observation of a deleterious variant limit the strength of the functional evidence. In summary, while the detection of a somatic ABI3BP variant in SPS lesions may hint at a contributory role in colorectal tumorigenesis, additional studies are necessary to confirm its diagnostic and therapeutic impact.

Key Take‑home: Although current evidence is limited, the identification of a deleterious ABI3BP somatic variant in SPS lesions underscores the potential for integrating molecular findings into tailored diagnostic strategies for colorectal cancer.

References

• Hereditary cancer in clinical practice • 2017 • Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome PMID:29213343

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