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Article

Family-Based Study Reveals PDE11A/PDE11A-AS1 Variants in Testicular Germ Cell Tumor Predisposition.

International journal of molecular sciences - 10 Jun 2026

Côrtes Luiza, Rodrigues Ana Beatriz, Silveira Sara Martoreli, Ramírez-Mejía Julieta M, Dreyer Carine Spenassatto, Aagaard Mads M, Fernandez Geysson Javier, Lopes Ademar, Filho José Carlos S Trindade, Rogatto Silvia Regina

Abstract excerpt

Testicular germ cell tumor (TGCT) is a common tumor type in young men. Family history of TGCT and its presence in twins support the involvement of inherited genetic factors. Germline exome sequencing was performed on monozygotic twins with TGCT and their parents. The twins presented compound heterozygous variants in PDE11A (rs776984134 and rs17400325) inherited from each parent. The rs776984134 variant disrupts...

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Topics

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Share to 3',5'-Cyclic-GMP Phosphodiesterases
Share to Exome Sequencing
Share to Genetic Predisposition to Disease
Share to Neoplasms, Germ Cell and Embryonal
Share to Pedigree
Share to Polymorphism, Single Nucleotide
Share to RNA, Long Noncoding
Share to Testicular Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 42352980
DOI: 10.3390/ijms27125261
PMCID: PMC13300246

Genes

PDE11A
CTU2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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