Results 41 to 50 of about 3,303,931 (259)

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

First international workshop of the ATM and cancer risk group (4-5 December 2019). [PDF]

, 2023
The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene in cancer was held on December 4 and 5, 2019 at Institut Curie in Paris, France. It was motivated by the fact that germline
Taylor, AMR, Arun, B, Roberts, NJ, Stoppa-Lyonnet, D, Southey, MC, Andrieu, N, Plaseska-Karanfia, D, CARRIERS and Ambry Groups,, Eeles, RA, Goldgar, DE, Dalmasso, BS, Nguyen-Dumont, T, Kote-Jarai, Z, Le Gal, D, Versmold, B, Cavaciuti, E, Goldstein, AM, Spanish ATM working group,, Dominguez-Valentin, M, Renault, A-L, Dorling, L, Tavtigian, SV, Lesueur, F, Dunning, AM, Herold, N, Bernstein, JL, Ghiorzo, P, Easton, DF, Schmutzler, RK, GC-HBOC,, Feliubadaló, L, Rookus, M   +31 more
core   +1 more source

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent.
Willemina R. Geurts‐Giele, Efraim H. Rosenberg, Anja van Rens, Monique E. van Leerdam, Winand N. Dinjens, Fonnet E. Bleeker   +5 more
doaj   +1 more source

Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice

Hereditary Cancer in Clinical Practice, 2021
Background This nationwide study assessed the impact of nationally agreed cancer genetics guidelines on use of BRCA1/2 germline testing, risk management advice given by health professionals to women with pathogenic BRCA1/2 variants and uptake of such ...
Bettina Meiser, Rajneesh Kaur, April Morrow, Michelle Peate, W. K. Tim Wong, Emily McPike, Elisa Cops, Cassandra Nichols, Rachel Austin, Miriam Fine, Letitia Thrupp, Robyn Ward, Finlay Macrae, Janet E. Hiller, Alison H. Trainer, Gillian Mitchell, for the ICCon Audit Study Collaborative Group   +16 more
doaj   +1 more source

Evidence‐Informed Multidisciplinary Consensus Guidance for the Psychosocial Care of Adolescents With High‐Risk Cancer: Recommendations From the Italian Association of Pediatric Hematology and Oncology

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adolescents with high‐risk cancer face complex developmental, psychosocial, and ethical challenges that extend beyond disease‐directed treatment. Although international recommendations exist for communication, psychosocial care, pediatric palliative care, survivorship, and shared decision‐making, these have largely evolved within ...
Johanna M. C. Blom, Dorella Scarponi, Giulia Zucchetti, Teresa Perillo, Maria Montanaro, Elisa Marconi, Chiara Rutigliano, Paolo Colavero, Paola Quarello, Marina Bertolotti, Monica Cellini, Carlo Clerici, Maurizio Mascarin, Francesca Bomben, Andrea Ferrari, the expert workgroup   +15 more
wiley   +1 more source

The prevalence of BRCA mutations among familial breast cancer patients in Korea: Results of the Korean Hereditary Breast Cancer study

, 2021
The primary aim of this study was to estimate the prevalence of BRCA1/2 mutations among familial breast cancer (BC) patients in Korea. We analyzed 775 familial BC patients who were enrolled in the Korean Hereditary Breast Cancer (KOHBRA) study and ...
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core   +1 more source

Bridging the Loneliness Gap: Depression, Connectivity, and Isolation in Pediatric Oncology Patients and Their Peers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld, Scott H. Maurer, Michelle D. Watkinson, John Nury, Elise Barberis, Molly C. Mack   +5 more
wiley   +1 more source

Reclassification of BRCA2 Variants of Uncertain Significance Using Saturation Genome Editing Combined with Clinical Phenotypes in Breast Cancer

Current Oncology
Purpose: To evaluate the pathogenicity of BRCA2 variants of uncertain significance (VUS) located within the functionally critical exons 15–26 using published SGE data, and to reclassify these VUS by integrating clinical phenotypes. Methods: A total of 15,
Yueran Shen, Jiuan Chen, Li Hu, Jie Sun, Juan Zhang, Lu Yao, Ye Xu, Yuntao Xie   +7 more
doaj   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Clinical Significance of FOXP3 Expression in BRCA1/2-Mutant Breast Cancer

Zhongliu Fangzhi Yanjiu
ObjectiveTo investigate the potential significance of FOXP3 expression in BRCA1/2-mutant breast cancer. MethodsA total of 48 BRCA mutation carriers (16 with BRCA1 and 32 with BRCA2) and 78 age-matched non-carriers were included in this study ...
Linxi CHEN, Li HU, Jiuan CHEN, Lu YAO, Juan ZHANG, Ye XU, Yuntao XIE   +6 more
doaj   +1 more source