Zobrazeno 1 - 10
of 314
pro vyhledávání: '"Cancer predisposition syndrome"'
Autor:
Giada Del Baldo, Angela Mastronuzzi, Selene Cipri, Emanuele Agolini, Marta Matraxia, Antonio Novelli, Antonella Cacchione, Annalisa Serra, Andrea Carai, Luigi Boccuto, Giovanna Stefania Colafati, Pier Luigi Di Paolo, Evelina Miele, Sabina Barresi, Rita Alaggio, Sabrina Rossi, Isabella Giovannoni
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Cancer predisposition syndromes are recognized in about 10% of pediatric malignancies with several genes specifically involved in a subset of pediatric tumors such as DICER1, in pleuropulmonary blastoma, cystic nephroma, and brain sarcomas.
Externí odkaz:
https://doaj.org/article/6e9544ccf65a442488bd95429b65a943
Autor:
Natalia Campacci, Rebeca Silveira Grasel, Henrique de Campos Reis Galvão, Lucas França Garcia, Paula Carvalho Ribeiro, Kercy Fram de Jesus de Sena Pereira, José Roberto Goldim, Patricia Ashton-Prolla, Edenir Inêz Palmero
Publikováno v:
Frontiers in Psychology, Vol 15 (2024)
IntroductionCancer Genetic Counseling (CGC) and genetic testing (GT) assume a paramount role for hereditary cancer predisposition syndrome families. We assessed the effects of CGC and GT on women affected by cancer who are at risk for hereditary brea
Externí odkaz:
https://doaj.org/article/ac6b1c0b14a14b17b4e1c102022c97c2
Autor:
Raymond J. Monnat
Publikováno v:
Cells, Vol 13, Iss 13, p 1077 (2024)
James German’s work to establish the natural history and cancer risk associated with Bloom syndrome (BS) has had a strong influence on the generation of scientists and clinicians working to understand other RECQ deficiencies and heritable cancer pr
Externí odkaz:
https://doaj.org/article/466226b2086d427e8384b123f050e633
Autor:
Francesco Fabozzi, Rosalba Carrozzo, Mariachiara Lodi, Angela Di Giannatale, Selene Cipri, Chiara Rosignoli, Isabella Giovannoni, Alessandra Stracuzzi, Teresa Rizza, Claudio Montante, Emanuele Agolini, Michela Di Nottia, Federica Galaverna, Giada Del Baldo, Francesco Del Bufalo, Angela Mastronuzzi, Maria Antonietta De Ioris
Publikováno v:
Frontiers in Oncology, Vol 13 (2024)
The increased availability of genetic technologies has significantly improved the detection of novel germline variants conferring a predisposition to tumor development in patients with malignant disease. The identification of variants of uncertain si
Externí odkaz:
https://doaj.org/article/9a9082b1342045729d45a563947a18ad
Autor:
Carolina Sassorossi, Marco Chiappetta, Maria Teresa Congedo, Sara Flamini, Annalisa Campanella, Jessica Evangelista, Rodolfo Iuliano, Luigi Boccuto, Filippo Lococo
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Externí odkaz:
https://doaj.org/article/bff1bf6812d84ac1a8a00acc2b2a1cd1
Autor:
Anna Maria Caroleo, Silvia Rotulo, Emanuele Agolini, Marina Macchiaiolo, Luigi Boccuto, Manila Antonelli, Giovanna Stefania Colafati, Antonella Cacchione, Giacomina Megaro, Andrea Carai, Maria Antonietta De Ioris, Mariachiara Lodi, Assunta Tornesello, Valeria Simone, Filippo Torroni, Giuseppe Cinalli, Angela Mastronuzzi
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a cancer predisposition syndrome characterized by an increased risk of developing benign and malignant tumors, caused by germline pathogenic variants of the PTEN tumour suppress
Externí odkaz:
https://doaj.org/article/503a38aa24fe4b618452fafd6c80ad26
Akademický článek
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Akademický článek
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Autor:
Laura Roht, Hanne K. Hyldebrandt, Astrid T. Stormorken, Hilde Nordgarden, Rolf H. Sijmons, Dennis K. Bos, Douglas Riegert‐Johnson, Sarah Mantia‐Macklin, Pilvi Ilves, Kai Muru, Monica H. Wojcik, Tiina Kahre, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information. Methods Data we
Externí odkaz:
https://doaj.org/article/5aff02c19dec4b41b527299b5660ab84
Autor:
Triantafyllia Brozou, Layal Yasin, Danielle Brandes, Daniel Picard, Carolin Walter, Julian Varghese, Martin Dugas, Ute Fischer, Arndt Borkhardt, Oskar A. Haas
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
Molecular screening tools have significantly eased the assessment of potential germline susceptibility factors that may underlie the development of pediatric malignancies. Most of the hitherto published studies utilize the comparative analyses of the
Externí odkaz:
https://doaj.org/article/6708bfe8cbf947749a0cbf40b25fba82