Results 101 to 110 of about 34,649 (263)

Parent and patient knowledge and attitudes about cancer predisposition syndrome genetic testing in pediatric oncology: Understanding sociodemographic and parent–child differences

Cancer Reports
Background Cancer predisposition syndromes (CPS) impact about 10% of patients with pediatric cancer. Genetic testing (CPS‐GT) has multiple benefits, but few studies have described parent and child knowledge and attitudes regarding CPS‐GT decision‐making.
Chelsea S. Rapoport, Diane Masser‐Frye, Sapna Mehta, Alyssa K. Choi, Sydney Olfus, Megan Korhummel, Veronica Hoyo, David Dimmock, Vanessa L. Malcarne, Dennis J. Kuo   +9 more
doaj   +1 more source

The Nordic ChiCaP Network: An interdisciplinary approach to childhood cancer predisposition

Rare
Testing for Childhood Cancer Predisposition (ChiCaP) syndromes is increasingly common in pediatric oncology as early identification can help adapt treatment and initiate surveillance.
Fulya Taylan, Joel Janhonen, Katja Ekholm, Svetlana Bajalica-Lagercrantz, Stefan Becker, Andreas Benneche, Patrick Cairns, Åsa Grauman, Maria Haanpää, Ole Haubjerg Nielsen, Hildegunn Høberg Vetti, Lauge Holm Sørensen, Bushra Ishaq, Kirsi Jahnukainen, Andreina Kero, Ida Katrine Knapstad, Laura S. Korhonen, Ekaterina Kuchinskaya, Kristina Lagerstedt-Robinson, Hanne C. Lie, Gustaf Ljungman, Carolina Maya-González, Saara Nolvi, Kristiina Nordfors, Thale Kristin Olsen, Sara Orrsjö, Anna Poluha, Kjeld Schmiegelow, Ulrik Kristoffer Stoltze, Sonja Strang-Karlsson, Alexander Sun Zhang, Bianca Tesi, Giorgio Tettamanti, Emma Tham, Alexandra Wachtmeister, Karin A.W. Wadt, Ayo Wahlberg, Teresia Wangensteen, Joakim Wille, Monica Cheng Munthe-Kaas, Ann Nordgren   +40 more
doaj   +1 more source

Hereditary ovarian cancer [PDF]

, 2009
Apoptosis is a form of cell death that permits the removal of damaged, senescent or unwanted cells in multicellular organisms, without damage to the cellular microenvironment.
BAZAN, Viviana, BRUNO, Loredana, Calò, V, DI FEDE, Gaetana, RIZZO, Sergio, RUSSO, Antonio   +5 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Pancreatic Cancer in Lynch Syndrome Patients [PDF]

, 2017
Although colorectal cancer (CRC) is the most common cancer type in Lynch syndrome (LS) families, patients have also increased lifetime risk of other types of tumors.
Bujanda Fernández de Pierola, Luis, Herreros Villanueva, Marta   +1 more
core   +4 more sources

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Paraneoplastic neurological syndromes associated with ovarian tumors [PDF]

, 2014
Introduction: Paraneoplastic neurological syndromes (PNS) are neurologic deficits triggered by an underlying remote tumor. PNS can antedate clinical manifestation of ovarian malignancy and enable its diagnosis at an early stage.
Michalak, Slawomir, Nowak-Markwitz, Ewa, Spaczynski, Marek, Zaborowski, Mikolaj Piotr   +3 more
core   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Lineage-specific T-cell responses to cancer mucosa antigen oppose systemic metastases without mucosal inflammatory disease. [PDF]

, 2009
Cancer mucosa antigens are emerging as a new category of self-antigens expressed normally in immunologically privileged mucosal compartments and universally by their derivative tumors.
Birbe, Ruth C, Bombonati, Alessandro, Eisenlohr, Laurence C., Faul, Elizabeth J, Huang, Lan, Li, Peng, Schnell, Matthias J, Schulz, Stephanie, Snook, Adam E, Stafford, Benjamin J, Waldman, Scott A   +10 more
core   +2 more sources

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source