MBIP – Papillary Thyroid Carcinoma

The association between MBIP and papillary thyroid carcinoma is supported by evidence from multi-patient genetic studies. Two independent investigations have analyzed germline single nucleotide polymorphisms in MBIP and found statistically significant associations with disease parameters, although the reported effect sizes indicate a moderate impact on risk (PMID:27342578, PMID:35907052).

The genetic evidence is derived from studies that evaluated cohorts of 1216 and 86 papillary thyroid carcinoma patients respectively. Although neither study provided detailed familial segregation data (0 affected relatives), the analysis of MBIP expression and variant associations (e.g. the variant recast as c.116T>G (p.Leu39Arg)) has contributed to a moderate score for gene-disease association (PMID:27342578, PMID:35907052).

MBIP is proposed to influence thyroid cancer predisposition via a germline mechanism that is likely autosomal dominant in its effect, as suggested by risk allele data from genome-wide association studies. Within the genetic evidence, the recast variant c.116T>G (p.Leu39Arg) serves as a representative molecular lesion supporting the association, although further investigation is warranted to better understand its role.

On the functional side, MBIP expression levels have been shown to correlate with tumor T stage, indicating a potential role in disease progression. However, the available experimental data are limited to expression studies without complementary in vivo models or rescue experiments. This confines the functional evidence to a limited tier in terms of informing pathogenic mechanism (PMID:27342578).

Integrating the genetic and functional findings, the evidence collectively supports a moderate association between MBIP and papillary thyroid carcinoma. While robust population data and significant correlations with clinical features justify its relevance, the absence of family segregation data and more detailed functional assays suggests that additional validation studies are needed.

Key take‑home: MBIP germline variant assessment can contribute valuable information for clinical stratification in papillary thyroid carcinoma management, potentially enhancing diagnostic decision‑making and paving the way for future translational research.

References

• Thyroid • 2016 • Papillary Thyroid Carcinoma: Association Between Germline DNA Variant Markers and Clinical Parameters PMID:27342578
• Bratislavske lekarske listy • 2022 • Risk genetic polymorphism and haplotype associated with papillary thyroid cancer and their relation to associated diseases in Slovak population PMID:35907052

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