CATSPERB and Colorectal Cancer

The association between CATSPERB and colorectal cancer derives from recent exome sequencing studies in serrated polyp lesions from a patient with serrated polyposis syndrome (SPS). This work has identified, among several somatic events, a predicted deleterious alteration in CATSPERB in early neoplastic lesions. Although the mutation was detected in a single patient’s lesions, its recurrence within this context suggests a potential role in tumorigenesis.

Genetic evidence is based on exome analyses of 11 early serrated polyps obtained from a 41‐year‑old female with SPS, where a deleterious mutation in CATSPERB was noted alongside other candidate genes. However, the absence of segregation data or replication in multiple unrelated probands limits the strength of this gene–disease association (PMID:29213343).

In terms of genetic findings, the study reported deleterious missense changes identified in candidate genes, with CATSPERB highlighted as potentially impactful. No explicit HGVS string for CATSPERB was provided in the mutation list, and further detailed variant-level evidence is pending. Consequently, while the genetic signal is evident, the lack of a standardized reported variant underscores the need for additional molecular characterization.

Preliminary functional assessments have been mentioned in the context of the study, although explicit details regarding functional assays, rescue experiments, or animal/cellular models remain sparse. This dearth of in-depth functional data further contributes to the overall limited strength of evidence currently available for CATSPERB in colorectal cancer.

There is no documented conflicting evidence; however, the solitary nature of the observation and the absence of comprehensive experimental validation warrant cautious interpretation. Further studies are required to reproduce these findings in additional patient cohorts and to elucidate the underlying mechanism of pathogenicity.

In summary, while the identification of a deleterious CATSPERB alteration in SPS-associated serrated lesions provides an intriguing clue towards its role in colorectal cancer, the overall evidence remains limited. Clinicians and researchers should view this association as a promising candidate for future investigation, but not yet definitive for diagnostic decision‑making.

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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