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NPJ Precision Oncology|November 19, 2025
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrumKelsey E Breen, Nikita Mehta, Vignesh Ravichandran, et al.Human Mutation|August 25, 2019
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinomaLiying Zhang, Michael F Walsh, Sowmya Jairam, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.Journal of Hematology & Oncology|January 6, 2026
Multiple myeloma risk linked to DNA damage response genesMichael Conry, Irina Ostrovnaya, Yelena Kemel, et al.Cancer Genetics|September 4, 2012
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortiumPhuong L Mai, David Malkin, Judy E Garber, et al.Cancer Research|July 9, 2009
Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriersTimothy R Rebbeck, Nandita Mitra, Susan M Domchek, et al.HGG Advances|October 5, 2023
Multiple TP53 p.R337H haplotypes and implications for tumor susceptibilityEmilia M Pinto, Cintia Fridman, Bonald C Figueiredo, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|March 30, 2016
Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing PanelsZsofia K Stadler, Francesca Battaglin, Sumit Middha, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 8, 2022
NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response DefectsSami Belhadj, Aliya Khurram, Chaitanya Bandlamudi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2024
Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factorsBrent Mabey, Elisha Hughes, Matthew Kucera, et al.Pageof 68