Zobrazeno 1 - 10
of 2 919
pro vyhledávání: '"cancer predisposition"'
Publikováno v:
Case Reports in Oncology, Vol 17, Iss 1, Pp 1309-1315 (2024)
Introduction: Von Hippel-Lindau (VHL) is a diagnosis that leads to increased risk of tumor development over the course of a patient’s lifetime. Patients with VHL undergo screening for multiple tumor types, including pheochromocytomas (PCCs). There
Externí odkaz:
https://doaj.org/article/481d869b7ab842d2bb62c1840ccdb6d9
Autor:
Mohammad-Salar Hosseini
Publikováno v:
Discover Oncology, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract Li-Fraumeni syndrome is a rare yet serious hereditary cancer predisposition syndrome, marked by a significant early-life increased risk of developing cancer. Primarily caused by germline mutations in the TP53 tumor suppressor gene, Li-Fraume
Externí odkaz:
https://doaj.org/article/aecc43d7f67e455792eb44d253f6c621
Autor:
Manuela Krumbholz, Anna Dolnik, Eric Sträng, Tabita Ghete, Sabrina Skambraks, Stephan Hutter, Alfred Simonis, Frank Stegelmann, Meinolf Suttorp, Anselm H.C. Horn, Heinrich Sticht, Torsten Haferlach, Lars Bullinger, Markus Metzler
Publikováno v:
Molecular Cancer, Vol 23, Iss 1, Pp 1-9 (2024)
Abstract Chronic myeloid leukemia (CML) typically occurs in late adulthood. Pediatric CML is a rare form of leukemia. In all age groups, the characteristic genetic driver of the disease is the BCR::ABL1 fusion gene. However, additional genomic events
Externí odkaz:
https://doaj.org/article/c0002c5502d947b59c0f86f299280767
Autor:
Joana M. Xavier, Ramiro Magno, Roslin Russell, Bernardo P. de Almeida, Ana Jacinta-Fernandes, André Besouro-Duarte, Mark Dunning, Shamith Samarajiwa, Martin O’Reilly, António M. Maia, Cátia L. Rocha, Nordiana Rosli, Bruce A. J. Ponder, Ana-Teresa Maia
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-19 (2024)
Abstract Understanding breast cancer genetic risk relies on identifying causal variants and candidate target genes in risk loci identified by genome-wide association studies (GWAS), which remains challenging. Since most loci fall in active gene regul
Externí odkaz:
https://doaj.org/article/5911727bfc684d7781c670c96a6ca054
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:
Maria P. Silva, Luísa T. Ferreira, Natércia F. Brás, Lurdes Torres, Andreia Brandão, Manuela Pinheiro, Marta Cardoso, Adriana Resende, Joana Vieira, Carlos Palmeira, Gabriela Martins, Miguel Silva, Carla Pinto, Ana Peixoto, João Silva, Rui Henrique, Sofia Maia, Helder Maiato, Manuel R. Teixeira, Paula Paulo
Publikováno v:
Journal of Biomedical Science, Vol 31, Iss 1, Pp 1-17 (2024)
Abstract Background Prostate cancer (PrCa) is the most frequently diagnosed cancer in men. Variants in known moderate- to high-penetrance genes explain less than 5% of the cases arising at early-onset (
Externí odkaz:
https://doaj.org/article/89556ac24efa46d1a230f329bd5bf87d
Autor:
John Apps, Timothy A. Ritzmann, JoFen Liu, Dhurgshaarna Shanmugavadivel, Christina Halsey, Kathy Pritchard Jones, Rifat Atun, Kathy Oliver, Kavita Vedhara, Ashley Ball-Gamble, Neil Ranasinghe, Angela Polanco, Jenny Adamski, Adam L. Green, David A. Walker
Publikováno v:
EJC Paediatric Oncology, Vol 4, Iss , Pp 100191- (2024)
Childhood cancers are increasingly recognised as disorders of tissue growth and development, through early life into adulthood. A rising proportion are currently considered to be related to a familial predisposition or associated with identified gene
Externí odkaz:
https://doaj.org/article/1711c731233b49c6871687c579334744
Autor:
Jette J. Bakhuizen, Franck Bourdeaut, Karin A.W. Wadt, Christian P. Kratz, Marjolijn C.J. Jongmans, Nicolas Waespe
Publikováno v:
EJC Paediatric Oncology, Vol 4, Iss , Pp 100176- (2024)
Background: Cancer Predisposition Syndromes (CPSs) have been identified in 7–15 % of children with cancer. The possibilities for germline genetic testing have increased in recent years, presenting new opportunities but also challenges. There is cur
Externí odkaz:
https://doaj.org/article/80ac3cc002404966bcc44cb173a75ae0
Autor:
Margaret Shatara, Kathleen M. Schieffer, Marilena Melas, Elizabeth A. Varga, Diana Thomas, Brianna A. Bucknor, Heather M. Costello, Gregory Wheeler, Benjamin J. Kelly, Katherine E. Miller, Diana P. Rodriguez, Mariam T. Mathew, Kristy Lee, Erin Crotty, Sarah Leary, Vera A. Paulson, Bonnie Cole, Mohamed S. Abdelbaki, Jonathan L. Finlay, Margot A. Lazow, Ralph Salloum, Maryam Fouladi, Daniel R. Boué, Elaine R. Mardis, Catherine E. Cottrell
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionIn the setting of pediatric and adolescent young adult cancer, increased access to genomic profiling has enhanced the detection of genetic variation associated with cancer predisposition, including germline syndromic conditions. Noonan sy
Externí odkaz:
https://doaj.org/article/3f7187b0ada1421ea4a77df0475dfdd6
Autor:
Mengjie Zhong, Wenjie Xu, Pan Tian, Qin Zhang, Zixian Wang, Limiao Liang, Qixiang Zhang, Yuehong Yang, Ying Lu, Gong‐Hong Wei
Publikováno v:
Advanced Science, Vol 11, Iss 32, Pp n/a-n/a (2024)
Abstract Genetic and epigenetic alterations are cancer hallmark characteristics. However, the role of inherited cancer predisposition alleles in co‐opting lineage factor epigenetic reprogramming and tumor progression remains elusive. Here the FinnG
Externí odkaz:
https://doaj.org/article/52b2215bb66f4b908aa3592e93dfdd0d