Unveiling a Genetic Link Between Adenomyosis and Carcinogenesis via Whole-Exome Sequencing: Could NTN1-Mediated Epithelial Mesenchymal Transition Be a Shared Mechanism?

Feyza Nur Tuncer, Sevcan Aydın, Nura Fitnat Topbaş Selçuki, Pınar Yalçın Bahat
In: Experimed · 2026 · vol. 16(1) , pp. 72–79 · doi:10.26650/experimed.1877834 · W7157140714
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⚙ AI-generated summary by claude@2026-06, 2026-06-06 ⓘ

Whole-exome sequencing identified a novel NTN1 variant associated with epithelial-mesenchymal transition in families with both adenomyosis and various cancers, suggesting a shared pathobiological mechanism.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-06 · read from full text ⓘ

This paper investigates whether adenomyosis shares a genetic mechanism with carcinogenesis by using whole-exome sequencing to identify genetic links, focusing on the potential role of NTN1 in epithelial–mesenchymal transition pathways. The high-level approach compares or analyzes exome-derived variants in the adenomyosis context to connect altered genes to tumor-associated processes. A key finding highlighted is the suggested association involving NTN1-mediated epithelial–mesenchymal transition as a shared pathway between adenomyosis and cancer-related biology. The authors’ primary caveat is the mechanistic interpretation based on genetic associations rather than direct functional confirmation within the study. This paper is centrally about adenomyosis — identifying a whole-exome genetic link to carcinogenesis with emphasis on NTN1-mediated epithelial–mesenchymal transition.

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Abstract

Objective: Adenomyosis is a benign uterine condition characterized by the invasion of endometrial glands and stromal tissue into the myometrium. It exhibits cancer-like characteristics, such as epithelial-mesenchymal transition (EMT). We aimed to identify shared genetic variants between different cancers and adenomyosis, focusing on a family with women affected by both conditions.Materials and Methods: Among the four women with a family history of adenomyosis and carcinogenesis, two received pathologically confirmed diagnosis of ovarian adenocarcinoma and clear cell renal cell carcinoma (ccRCC). Genomic material was obtained from blood leukocytes, followed by whole exome sequencing to investigate novel and rare genetic variants related to both conditions.Results: Pathological evaluations excluded adenomyosis in the case diagnosed with ovarian mucinous adenocarcinoma, whereas it was confirmed in the case with ccRCC. A novel genetic variant, NTN1 p. (Ser271Ala), which triggers EMT and encourages tumor growth, was identified across all cases. The DynaMut prediction tool reported that this variant has a destabilizing impact on protein structure, which gained further support from four distinct prediction tools (ENCoM, mCSM, DUET, and MUpro). Additional rare variants in five genes were shared among the cases diagnosed with cancer.Conclusion: NTN1 may be involved in the pathobiology of carcinogenesis and adenomyosis, potentially linking these conditions through EMT. Functional studies are required to further investigate the impact of this novel variant.
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adenomyosis

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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