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Your search keyword '"Cipri, Selene"' showing total 2 results
Start Over Author "Cipri, Selene" Topic brca genes
2 results on '"Cipri, Selene"'

1. The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect

Author

Del Baldo, Giada, Mastronuzzi, Angela, Cipri, Selene, Agolini, Emanuele, Matraxia, Marta, Novelli, Antonio, Cacchione, Antonella, Serra, Annalisa, Carai, Andrea, Boccuto, Luigi, Colafati, Giovanna Stefania, Di Paolo, Pier Luigi, Miele, Evelina, Barresi, Sabina, Alaggio, Rita, Rossi, Sabrina, and Giovannoni, Isabella

Published
2024
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2. A second case report of medulloblastoma in a patient carrying biallelic pathogenic MUTYH germline variants.

Author

Cipri, Selene, Del Baldo, Giada, Carai, Andrea, Cacchione, Antonella, Agolini, Emanuele, Novelli, Antonio, Rossi, Sabrina, Colafati, Giovanna Stefania, Boccuto, Luigi, and Mastronuzzi, Angela

Subjects
*RECESSIVE genes, *GERM cells, *MEDULLOBLASTOMA, *BRCA genes, *CANCER genetics, *INFORMED consent (Medical law), *MEDICAL genetics
Abstract

This article discusses a case report of a patient with medulloblastoma (MB) who carried biallelic pathogenic MUTYH germline variants. The MUTYH gene is involved in DNA repair and is associated with a type of adenomatous polyposis affecting the colon and duodenum. While there is speculation about an increased risk of other cancers, such as ovarian, endometrial, and breast cancers, the connection remains unclear. The case report highlights the importance of considering MUTYH in the context of MB and related conditions and the need for further research to understand the genetic factors contributing to this cancer. [Extracted from the article]

Published
2024
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