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INPP5J – Colon Carcinoma

In a recent familial cancer study, INPP5J (HGNC:8956) was identified among a set of candidate genes within a region exhibiting ~10% homozygosity in two siblings with multiple primary cancers, including colon carcinoma (PMID:27900359). The study used exome sequencing and SNP genotyping to narrow the region of interest; however, while additional affected relatives were noted in the family, no INPP5J-specific variant or detailed segregation analysis was provided. The genetic evidence in support of INPP5J’s involvement is thus derived from its presence in a candidate gene set rather than from a discrete, validated pathogenic alteration.

The functional evidence remains limited because the experimental analyses in the study focused on alternative candidates and particularly on CHEK2, leaving the mechanistic role of INPP5J in colon carcinoma unelucidated. Consequently, while the candidate status of INPP5J raises its potential relevance within familial colon cancer predisposition syndromes, further independent studies, robust segregation data, and direct functional assays will be crucial to firmly establish its clinical validity.

Key Take‑home sentence: INPP5J represents a potential candidate gene for colon carcinoma in familial cancer contexts, yet its clinical utility awaits further definitive genetic and functional validation.

References

  • Cold Spring Harbor Molecular Case Studies • 2016 • Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs PMID:27900359

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

A single familial study identified INPP5J in a region of homozygosity in 2 siblings with colon carcinoma (PMID:27900359); absence of gene-specific variant segregation and direct functional validation limits the evidence.

Genetic Evidence

Limited

INPP5J was one of five candidate genes detected via exome sequencing and homozygosity mapping in a familial case (PMID:27900359); no discrete pathogenic variant has been confirmed for this gene.

Functional Evidence

Limited

There are no direct functional assays for INPP5J; experimental studies were focused on evaluating other candidates, leaving its mechanistic role uncertain.