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Mosaicism in PTEN—new case and comment on the literature

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Fig. 1: Cowden syndrome patient and mutational analysis of PTEN c.331T>C pathogenic variant.

Data availability

All the data generated in this study can be found within the published article and its Supplementary files.


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We thank CERCA Program/Generalitat de Catalunya for their institutional support. We also wish to thank all the members of the ICO Hereditary Cancer Program.


Supported by the Carlos III National Health Institute and Ministerio de Ciencia e Innovación, funded by FEDER funds—a way to build Europe—[PI19/00553; PI16/00563; PID2019-111254RB-I00] and CIBERONC [CB16/12/00234]; the Government of Catalonia [Pla estratègic de recerca i innovació en salut (PERIS_MedPerCan and URDCat projects), 2017SGR1282 and 2017SGR496].

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Authors and Affiliations



PR, JV, and CL conceived, designed, and planned the study; PR, LF, RC, OC, SG, GC, JV, and CL contributed to the acquisition, analysis, and/or interpretation of the molecular data; AT, MS, SI, and JB provided samples and clinical data; PR, AT, and CL drafted the manuscript. All authors critically reviewed the manuscript for intellectual content and approved the final version.

Corresponding author

Correspondence to Conxi Lázaro.

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Competing interests

The authors declare no competing interests.

Ethical approval

Informed written consent for both diagnostic and research purposes was obtained from the patient presented here. The study protocol was approved by the ethics committee of Bellvitge Biomedical Research Institute (IDIBELL; PR278/19).

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Rofes, P., Teulé, Á., Feliubadaló, L. et al. Mosaicism in PTEN—new case and comment on the literature. Eur J Hum Genet 30, 641–644 (2022).

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