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- Title
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer.
- Authors
Lintas, Carla; Canalis, Benedetta; Azzarà, Alessia; Sabarese, Giovanna; Perrone, Giuseppe; Gurrieri, Fiorella
- Abstract
Background: MUTYH germline monoallelic variants have been detected in a number of patients affected by breast/ovarian cancer or endometrial cancer, suggesting a potential susceptibility role, though their significance remains elusive since the disease mechanism is normally recessive. Hence, the aim of this research was to explore the hypothesis that a second hit could have arisen in the other allele in the tumor tissue. Methods: we used Sanger sequencing and immunohistochemistry to search for a second MUTYH variant in the tumoral DNA and to assess protein expression, respectively. Results: we detected one variant of unknown significance, one variant with conflicting interpretation of pathogenicity and three benign/likely benign variants; the MUTYH protein was not detected in the tumor tissue of half of the patients, and in others, its expression was reduced. Conclusions: our results fail to demonstrate that germinal monoallelic MUTYH variants increase cancer risk through a LOH (loss of heterozygosity) mechanism in the somatic tissue; however, the absence or partial loss of the MUTYH protein in many tumors suggests its dysregulation regardless of MUTYH genetic status.
- Subjects
ENDOMETRIAL cancer; OVARIAN cancer; BREAST; GENES; DISEASE risk factors; PROTEIN expression
- Publication
Genes, 2024, Vol 15, Issue 5, p554
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes15050554