INPP5J and Uterine Corpus Leiomyoma

A recent familial study identified INPP5J as one of five candidate genes within regions of homozygosity in two siblings with multiple primary cancers, including uterine corpus leiomyoma (PMID:27900359). Although the affected individuals exhibited complex cancer phenotypes, the study’s design—based on whole exome sequencing and SNP genotyping—provided only preliminary genetic evidence for INPP5J, without reporting any INPP5J‑specific pathogenic variants or additional segregation data.

The genetic evidence supporting INPP5J remains limited. No individual causal variant meeting stringent ClinGen criteria was described, and subsequent functional assessments focused on other candidates (notably CHEK2), leaving the molecular mechanism of INPP5J in uterine corpus leiomyoma uncharacterized. In summary, while INPP5J is a potential contributor based on its inclusion in the candidate gene panel derived from homozygosity mapping, further replication and targeted functional studies are essential to establish its clinical utility.

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

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