Cancer Research and Treatment

CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function

Carolina Pires, Inês J. Marques, Mariana Valério, Ana Saramago, Paulo E. Santo, Sandra Santos, Margarida Silva, Margarida M. Moura, João Matos, Teresa Pereira, Rafael Cabrera, Diana Lousa, Valeriano Leite, Tiago M. Bandeiras, João B. Vicente, Branca M. Ca

Journal of Biological Chemistry.2024; 300(3): 105767. CrossRef

The role of germline BRCA1 & BRCA2 mutations in familial pancreatic cancer: A systematic review and meta-analysis

Edward Kurnia Setiawan Limijadi, Muflihatul Muniroh, Yan Wisnu Prajoko, Kevin Christian Tjandra, Danendra Rakha Putra Respati, Alvaro Galli

Germline variant profiling of CHEK2 sequencing variants in breast cancer patients

Claire McCarthy-Leo, Scott Baughan, Hunter Dlugas, Prisca Abraham, Janice Gibbons, Carolyn Baldwin, Sarah Chung, Gerald L. Feldman, Gregory Dyson, Russell L. Finley, Michael A. Tainsky

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Helen Hanson, Esteban Astiazaran-Symonds, Laura M. Amendola, Judith Balmaña, William D. Foulkes, Paul James, Susan Klugman, Joanne Ngeow, Rita Schmutzler, Nicoleta Voian, Myra J. Wick, Tuya Pal, Marc Tischkowitz, Douglas R. Stewart

Genetics in Medicine.2023; 25(10): 100870. CrossRef

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review

Antonino Pantaleo, Giovanna Forte, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Katia De Marco, Elisabetta Di Nicola, Marialaura Latrofa, Valentina Grossi, Vittoria Disciglio, Cristiano Simone

Germline genetic variability in pancreatic cancer risk and prognosis

Manuel Gentiluomo, Federico Canzian, Andrea Nicolini, Federica Gemignani, Stefano Landi, Daniele Campa

Seminars in Cancer Biology.2022; 79: 105. CrossRef

Identification of high-risk germline variants for the development of pancreatic cancer: Common characteristics and potential guidance to screening guidelines

Cade Bennett, Mike Suguitan, John Abad, Akhil Chawla

A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes

Esteban Astiazaran-Symonds, Jung Kim, Jeremy S. Haley, Sun Young Kim, H. Shanker Rao, Regeneron Genetics Center, David J. Carey, Douglas R. Stewart, Alisa M. Goldstein

Hereditary Cancer in Clinical Practice.2022;[Epub] CrossRef

Genetic predisposition to male breast cancer in Poland

Marek Szwiec, Joanna Tomiczek-Szwiec, Wojciech Kluźniak, Dominika Wokołorczyk, Karolina Osowiecka, Robert Sibilski, Małgorzata Wachowiak, Jacek Gronwald, Helena Gronwald, Jan Lubiński, Cezary Cybulski, Steven A. Narod, Tomasz Huzarski

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

Greet Wieme, Jan Kral, Toon Rosseel, Petra Zemankova, Bram Parton, Michal Vocka, Mattias Van Heetvelde, Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, Jenneke van den Ende, Petr Nehasil, Sabine Tejpar, Marianna Borecka, Encarna B. Gómez García, Mari

Assembling and Validating Bioinformatic Pipelines for Next-Generation Sequencing Clinical Assays

Jeffrey A SoRelle, Megan Wachsmann, Brandi L. Cantarel

Archives of Pathology & Laboratory Medicine.2020; 144(9): 1118. CrossRef

Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer

Matthew B. Yurgelun, Anu B. Chittenden, Vicente Morales-Oyarvide, Douglas A. Rubinson, Richard F. Dunne, Margaret M. Kozak, Zhi Rong Qian, Marisa W. Welch, Lauren K. Brais, Annacarolina Da Silva, Justin L. Bui, Chen Yuan, Tingting Li, Wanwan Li, Atsuhiro

Genomic Features and Clinical Management of Patients with Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer

International Journal of Molecular Sciences.2019; 20(3): 561. CrossRef

Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma

O. Obazee, L. Archibugi, A. Andriulli, P. Soucek, E. Małecka‐Panas, A. Ivanauskas, T. Johnson, M. Gazouli, T. Pausch, R. T. Lawlor, G. M. Cavestro, A. C. Milanetto, M. Di Leo, C. Pasquali, P. Hegyi, A. Szentesi, C. E. Radu, C. Gheorghe, G. E. Theodoropoul

International Journal of Cancer.2019; 145(3): 686. CrossRef

Spectrum of APC and MUTYH germ‐line mutations in Russian patients with colorectal malignancies

G.A. Yanus, T.A. Akhapkina, A.O. Ivantsov, E.V. Preobrazhenskaya, S.N. Aleksakhina, I.V. Bizin, A.P. Sokolenko, N.V. Mitiushkina, E.Sh. Kuligina, E.N. Suspitsin, A.R. Venina, M.M. Holmatov, O.A. Zaitseva, O.S. Yatsuk, D.V. Pashkov, A.M. Belyaev, A.V. Togo

Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines

Akihiro Ohmoto, Chigusa Morizane, Emi Kubo, Erina Takai, Hiroko Hosoi, Yasunari Sakamoto, Shunsuke Kondo, Hideki Ueno, Kazuaki Shimada, Shinichi Yachida, Takuji Okusaka

Journal of Gastroenterology.2018; 53(10): 1159. CrossRef

Germline Variants and Risk for Pancreatic Cancer

Wei Zhan, Celeste A. Shelton, Phil J. Greer, Randall E. Brand, David C. Whitcomb