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JAMA Oncology|November 12, 2015
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNAKasmintan A Schrader, Donavan T Cheng, Vijai Joseph, et al.Plos One|January 12, 2016
A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer MetastasisSanford D Markowitz, Nora L Nock, Stephanie L Schmit, et al.Nature Communications|January 19, 2026
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer riskRick A C M Boonen, Sabine C Knaup, Roberta Menafra, 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.Journal of Hematology & Oncology|January 6, 2026
Multiple myeloma risk linked to DNA damage response genesMichael Conry, Irina Ostrovnaya, Yelena Kemel, et al.Plos Genetics|September 7, 2013
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndromeBari J Ballew, Vijai Joseph, Saurav De, et al.Plos Genetics|February 2, 2018
Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma riskRosalie G Waller, Todd M Darlington, Xiaomu Wei, et al.JAMA Network Open|July 12, 2021
Prevalence of Germline Alterations on Targeted Tumor-Normal Sequencing of Esophagogastric CancerGeoffrey Y Ku, Yelena Kemel, Steve B Maron, et al.European Urology Oncology|October 16, 2021
Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic TestingHong Truong, Rania Sheikh, Ritesh Kotecha, et al.Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Integrated Clinicogenomic Risk Modeling for Metachronous Second Primary CancersJohnathan Amsalem, Irina Ostrovnaya, Andrew R Marderstein, et al.Pageof 6