Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S, Camp SY, Chu H, Collins R, Gillani R, Park J, Bakouny Z, Ricker CA, Reardon B, Moore N, Kofman E, Labaki C, Braun D, Choueiri TK, AlDubayan SH, Van Allen EM.
medRxiv [Preprint]. 2023 Jan 19:2023.01.18.23284664. doi: 10.1101/2023.01.18.23284664.
Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Dudley B, Karloski E, Millard C, Carraway C, Hoang L, Karam R, Everett J, Brand R.
Fam Cancer. [O-08: Research Categories» Pancreatic cancer-related syndromes.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.
Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.
Decreased time from diagnosis to referral of PDAC patients: a quality improvement effort. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Cohen SA, Doran W, Harshbarger C, Nixon DM, Lichtenberg E, Cantafio A.
Fam Cancer. [P-24: Research Categories» Delivery of Care and Alternative Models.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Actionable pathogenic germline variants discovered by panel-based hereditary cancer testing in families with previously identified pathogenic variants. [2022 CGA-IGC Annual Meeting: The collaborative group of the Americas on Inherited Gastrointestinal Cancer November 11–13, 2022.]
Neumann C, Mcsweeny M, Rainey K, Campbell H, Nguyen C, Hall M.
Fam Cancer. [P-13: Research Categories » Counseling, Behavioral Health, Psychosocial, and Survivorship.] 2023 Jan 23. doi: 10.1007/s10689-022-00324-x. Epub ahead of print.
Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.
Lopes Cardozo JMN, Andrulis IL, Bojesen SE, Dörk T, Eccles DM, Fasching PA, Hooning MJ, Keeman R, Nevanlinna H, Rutgers EJT, Easton DF, Hall P, Pharoah PDP, van 't Veer LJ, Schmidt MK; Breast Cancer Association Consortium and MINDACT Collaborators.
J Clin Oncol. 2023 Jan 23:JCO2201978. doi: 10.1200/JCO.22.01978. Epub ahead of print.
Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.
McGee RB, Oak N, Harrison L, Xu K, Nuccio R, Blake AK, Mostafavi R, Lewis S, Taylor LM, Kubal M, Ouma A, Hines-Dowell SJ, Cheng C, Furtado LV, Nichols KE.
Clin Cancer Res. 2023 Jan 24:ccr.22.2482. doi: 10.1158/1078-0432.CCR-22-2482. Epub ahead of print.
Response to bipolar androgen therapy and PD-1 inhibition in a patient with metastatic castration-resistant prostate cancer and a germline CHEK2 mutation.
Berger BT, Labriola MK, Antonarakis ES, Armstrong AJ.
BMJ Case Rep. 2023 Jan 18;16(1):e251320. doi: 10.1136/bcr-2022-251320.