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Article

Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors

1
Medical Genetics, National Institute of Gastroenterology “S. de Bellis” Research Hospital, Castellana Grotte, 70013 Bari, Italy
2
Oncology Unit, National Institute of Gastroenterology “S. de Bellis” Research Hospital, Castellana Grotte, 70013 Bari, Italy
3
Department of Pathology, National Institute of Gastroenterology “S. de Bellis” Research Hospital, Castellana Grotte, 70013 Bari, Italy
4
Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari Aldo Moro, 70124 Bari, Italy
*
Author to whom correspondence should be addressed.
These authors contributed equally to the work.
Academic Editor: Robert Winqvist
Genes 2022, 13(4), 644; https://doi.org/10.3390/genes13040644
Received: 30 December 2021 / Revised: 31 March 2022 / Accepted: 2 April 2022 / Published: 5 April 2022
(This article belongs to the Special Issue Feature Papers: Molecular Genetics and Genomics)
Genetic variants located in non-coding regions can affect processes that regulate protein expression, functionally contributing to human disease. Germline heterozygous mutations in the non-coding region of the PTEN gene have been previously identified in patients with PTEN hamartoma tumor syndrome (PHTS) diagnosed with breast, thyroid, and/or endometrial cancer. In this study, we report a PTEN promoter variant (rs34149102 A allele) that was identified by direct sequencing in an Italian family with a history of gastroesophageal junction (GEJ) adenocarcinoma and breast cancer. In order to investigate the putative functional role of the rs34149102 A allele variant, we evaluated the status of PTEN alterations at the somatic level. We found that PTEN protein expression was absent in the GEJ adenocarcinoma tissue of the index case. Moreover, we detected the occurrence of copy number loss involving the PTEN rs34149102 major C allele in tumor tissue, revealing that the second allele was somatically inactivated. This variant is located within an active regulatory region of the PTEN core promoter, and in silico analysis suggests that it may affect the binding of the nuclear transcription factor MAZ and hence PTEN expression. Overall, these results reveal the functional role of the PTEN promoter rs34149102 A allele variant in the modulation of PTEN protein expression and highlight its contribution to hereditary cancer risk. View Full-Text
Keywords: PTEN promoter; PTEN hamartoma tumor syndrome (PHTS); gastroesophageal junction adenocarcinoma; breast cancer PTEN promoter; PTEN hamartoma tumor syndrome (PHTS); gastroesophageal junction adenocarcinoma; breast cancer
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MDPI and ACS Style

Disciglio, V.; Sanese, P.; Fasano, C.; Lotesoriere, C.; Valentini, A.M.; Forte, G.; Lepore Signorile, M.; De Marco, K.; Grossi, V.; Lolli, I.; Cariola, F.; Simone, C. Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors. Genes 2022, 13, 644. https://doi.org/10.3390/genes13040644

AMA Style

Disciglio V, Sanese P, Fasano C, Lotesoriere C, Valentini AM, Forte G, Lepore Signorile M, De Marco K, Grossi V, Lolli I, Cariola F, Simone C. Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors. Genes. 2022; 13(4):644. https://doi.org/10.3390/genes13040644

Chicago/Turabian Style

Disciglio, Vittoria, Paola Sanese, Candida Fasano, Claudio Lotesoriere, Anna Maria Valentini, Giovanna Forte, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Ivan Lolli, Filomena Cariola, and Cristiano Simone. 2022. "Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors" Genes 13, no. 4: 644. https://doi.org/10.3390/genes13040644

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