Ausgabe 1/2025
Inhalt (27 Artikel)
Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature
- Original Article
Maria Laura Gonzalez, Carolina Vazquez, Maria J. Argüero, Juan P. Santino, Ana Braslavsky, Marcelo M. Serra
Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland
- Original Article
Mechelle Loughrey, Lauren V. O’Connell, Lynda McSorley, Sean Martin, Ann Hanly, Des C. Winter, Ian M. Frayling, Kieran Sheahan, Rory Kennelly
Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome
- Open Access
- Original Article
Heidi Hesselø Brinch, Anna Byrjalsen, Zuzana Lohse, Andreas Ørslev Rasmussen, John Gásdal Karstensen, Britta Schlott Kristiansen, Anne Marie Jelsig
BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants
- Brief Report
Aastha Vatsyayan, R. I. Anu, Prerika Mathur, Divya Uchil, Ashish Joshi, Aradhana Dwivedi, Bhawna Sirohi, Aju Mathew, Dileep Damodaran, Soumya Surath Panda, Spoorthy Kolluri, Shaji K. Ayillath, Deepak Amalnath, Gomathi Shankar, Kavita Pandhare, Vinod Scaria
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis
- Original Article
Francisco Cezar Aquino de Moraes, Lucca Dal Moro, Maria Eduarda Cavalcanti Souza, Anna Luíza Soares de Oliveira Rodrigues, Vitor Kendi Tsuchiya Sano, Bárbara Ferraz Barbosa, Lucas Gama Pacheco, Daniel Ferreira Cunha, Otávio Luiz de Queiroz, Dilma do Socorro Moraes de Souza, Danielle Feio, Carlos Stecca, Rommel Mario Rodríguez Burbano
The genetic landscape of Lynch syndrome in the Israeli population
- Open Access
- Original Article
Aasem Abu Shtaya, Sofia Naftaly Nathan, Inbal Kedar, Eitan Friedman, Elizabeth Half, Gabi Lidzbarsky, Gili Reznick Levi, Ido Laish, Lior Katz, Lily Bazak, Lilach Peled Peretz, Lina Basel Salmon, Liza Douiev, Marina Lifshitc Kalis, Menachem Schechter, Michal Barzily-Rokni, Nadra Nasser Samra, Naim Abu-Freha, Ofir Hagari-Bechar, Ori Segol, Samar Mattar, Sarit Farage Barhom, Shikma Mordechai, Shiri Shkedi Rafid, Stavit A. Shalev, Tamar Peretz-Yablonski, Zohar Levi, Revital Bruchim, Chana Vinkler, Rinat Bernstein-Molho, Sari Lieberman, Yael Goldberg
Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service
- Brief Report
Francesca Fiorentino, Giovanni Innella, Federica Balducci, Laura Marullo, Giulia Lanzoni, Sara Miccoli, Laura Cardarelli, Daniela Turchetti, Sergio Tempesta
A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic
- Original Article
Rida Haider, Lauren Desrosiers-Battu, Sarah Scollon, Pawel Stankiewicz, Philip J. Lupo, Sharon E. Plon
Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework
- Original Article
Liliana Varesco, Francesco Di Tano, Juri Monducci, Stefania Sciallero, Daniela Turchetti, Claudia Bighin, Giulia Buzzatti, Irene Giannubilo, Lucia Trevisan, Linda Battistuzzi
Sarcomas arising in MEN1 patients: demonstrating LOH of the MEN1 locus and loss of menin expression
- Original Article
Rachel S. van Leeuwaarde, Thorvardur R. Halfdanarson, Shwetha M. Sudhakar, Ruud W. J. Meijers, Andrew L. Folpe, Lodewijk A. A. Brosens
Recurrent paraneoplastic nephrotic syndrome; insights from a Lynch syndrome patient with multiple malignancies
- Short Communication
Myrthe A. de Jong, Marije Slingerland, Lukas J. A. C. Hawinkels, Maartje Nielsen, Augustinus S. L. P. Crobach, Eveline S. M. de Jonge-Muller, Antonius J. Rabelink, Alexandra M. J. Langers
Bilateral familial retinoblastoma diagnosed via optical coherence tomography following a normal funduscopic exam
- Brief Report
Mitchell T. Allphin, Aparna Ramasubramanian
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort
- Original Paper
Harsh Sheth, Jyoti Sadhwani, Abhinav Jain, S. G. Thenral, Vedam Ramprasad, D. Timothy Bishop
The challenge of preventing gastric cancer in patients under surveillance for familial adenomatous polyposis
- Open Access
- Brief Report
Hicham Bouchiba, Arthur S. Aelvoet, Nicole C. T. van Grieken, Lodewijk A. A. Brosens, Barbara A. J. Bastiaansen, Evelien Dekker
Progress report on multiple endocrine neoplasia type 1
- Open Access
- Review
Reut Halperin, Amit Tirosh
Correction: Benign tumors and non-melanoma skin cancers in patients with fanconi anemia
- Open Access
- Correction
Aura Enache, Bia Sajjad, Burak Altintas, Neelam Giri, Lisa J. McReynolds, Edward W. Cowen
Correction: Outcomes of retesting in patients with previously uninformative cancer genetics evaluations
- Correction
Shenin A. Sanoba, Erika S. Koeppe, Michelle F. Jacobs, Elena M. Stoffel
Case review of perivascular epithelioid cell tumor occurring in patients with Li-Fraumeni syndrome
- Brief Report
Natsuno Abe, Fumito Yamazaki, Hanako Tsujikawa, Ryosuke Kasuga, Nobuhito Taniki, Hiroyuki Shimada
Thirty-year compliance with a surveillance program for patients with familial adenomatous polyposis
- Original Article
Boris Cleret de Langavant, Jéremie H. Lefèvre, Julie Metras, Antoine Dardenne, Lauren V. O’Connell, Maxime Collard, Yann Parc
Myelodysplastic syndrome with dual germline RUNX1 and DDX41 variants: a rare genetic predisposition case
- Brief Report
Virginia Bove, Maria Noel Spangenberg, Carolina Ottati, Lucia Vázquez, Ana I. Catalán, Sofía Grille
Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing
- Brief Report
Morgane Boedec, Camille Aucouturier, Mathias Cavaillé, Raphaël Leman, Laurent Castéra, Hélène Delhomelle, Nancy Uhrhammer, Virginie Bernard, Sophie Giraud, Eulalie Lasseaux, Natalie Jones, Marie Bidart, Nadia Boutry-Kryza, Catherine Noguès, Chrystelle Colas, Christine Maugard, Sophie Krieger, Ahmed Bouras
New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients
- Original Article
Julie Amiot, Lara Gubeljak, Agathe Fontaine, Denis Smith, Isabelle Mortemousque, Nathalie Parodi, Jacques Mauillon, Edwige Kasper, Stéphanie Baert-Desurmont, Julie Tinat, Claude Houdayer
CHEK2-related breast cancer: real-world challenges
- Original Article
Luiza N. Weis, Brittany L. Bychkovsky, Adela Rodríguez Hernandez, Romualdo Barroso-Sousa, Renata L. Sandoval
A novel likely pathogenic germline variant in CDKN1B in a patient with MEN4 and medullary thyroid cancer
- Brief Report
Fernández Mercè, Queralt Asla, Francisco J. Illana, Fusté Victòria, Hernández-Losa Javier, Sesé Marta, Carmela Iglesias, Susan M. Webb, Anna Aulinas
Healthcare provider-mediated cascade testing of Lynch syndrome to at-risk family members: an interview study
- Original Article
Serene Ong, Zi Yang Chua, Jeanette Yuen, Jianbang Chiang, Zhang Zewen, Joanne Ngeow, Tamra Lysaght
Addressing uncertainty in hereditary colorectal cancer: the role of a regional expert multidisciplinary team meeting
- Open Access
- Brief Report
Avani Varde, Terri McVeigh, Vicky Cuthill, Angela F. Brady, Bianca DeSouza, Andrew Latchford, Kevin J. Monahan
Optimizing MRI sequences and apparent diffusion coefficient parameters for small pancreatic ductal adenocarcinoma detection
- Open Access
- Letter To the Editor
Naoko Mori
