Kara Noelle Maxwell MD PHD

PubMed

• Chemoresistance of TP53 mutant acute myeloid leukemia requires the mevalonate byproduct, geranylgeranyl pyrophosphate, for induction of an adaptive stress response.
  Sarah J Skuli, A'ishah Bakayoko, Marisa Kruidenier, Bryan Manning, Paige Pammer
  Leukemia. 2025-09-01
• Variation at the R181 residue of p53 confers loss of p53 DNA binding cooperativity with the retention of mitochondrial-associated apoptosis.
  Renyta Moses, Alexandra Indeglia, Alison S Levine, Ryan Hausler, Gregory Kelly
  Biorxiv. 2025-08-13
• Exploration of possible association ofpathogenic variants with central nervous system cancers in an institutional cohort.
  Jacqueline Cappadocia, Kara N Maxwell, Katherine L Nathanson, Stephen Bagley, Jacquelyn Powers
  Journal of Medical Genetics. 2025-08-07

Journal Articles

• The differential diagnosis of a TP53 genetic testing result  
  MacFarland SP, Maxwell KN, Genetics in Medicine, 1/1/2018
• Electronic health record phenotypes for precision medicine: perspectives and caveats from treatment of breast cancer at a single institution  
  Breitenstein MK, Liu H, Maxwell KN, Pathak J, Zhang R, Clinical and Translational Science, 1/1/2018
• Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer  
  Maxwell KN, Soucier-Ernst D, Tahirovic E, Troxel AB, Clark C, Feldman M, Colameco C, Kakrecha B, Langer M, Lieberman D, Morrissette JJD, Paul MR, Pan TC, Yee S, Shih N..., Breast Cancer Research and Treatment, 1/1/2017
• The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk  
  Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D..., NPJ Breast Cancer, 1/1/2017
• Allele-specific copy number estimation by whole exome sequencing  
  Chen H, Jiang Y, Maxwell KN, Nathanson KL, Zhang N, Ann Appl Stat, 1/1/2017
• Dietary influence on estrogens and cytokines in breast cancer  
  Nian X, Nagai Y, Jeffers C, Maxwell KN, Zhang H, AIMS Molecular Science, 1/1/2017
• BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers  
  Maxwell KN, Wubbenhorst B, Wenz BM, De Sloover D, Pluta J, Emery L, Barrett A, Kraya AA, Anastopoulos IN, Yu S, Jiang Y, Chen H, Zhang NR, Hackman N, D'Andrea K, Daber..., Nature Communications, 1/1/2017
• A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer  
  Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen ..., Cancer Discovery, 1/1/2016
• Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer  
  Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuh..., American Journal of Human Genetics, 1/1/2016
• Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations  
  Jean S, Li J, Katsaros D, Wubbenhorst B, Maxwell KN, Fishbein L, McLane MW, Benedetto C, Canuto EM, Mitra N, Zhang L, Nathanson KL, Tanyi JL, Oncotarget, 1/1/2016
• Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility ...  
  Hart SN, Maxwell KN, Thomas T, Ravichandran V, Wubberhorst B, Klein RJ, Schrader K, Szabo C, Weitzel JN, Neuhausen SL, Nathanson K, Offit K, Couch FJ, Vijai J, Briefings in Bioinformatics, 1/1/2016
• Population Frequency of Germline BRCA1/2 Mutations  
  Maxwell KN, Domchek SM, Nathanson KL, Robson ME, Journal of Clinical Oncology, 1/1/2016
• Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing  
  Bradbury Angela R, Patrick-Miller Linda J, Egleston Brian L, DiGiovanni Laura, Brower Jamie, Harris Diana, Stevens Evelyn M, Maxwell Kara N, Kulkarni Abha, Chavez Tyle..., Genetics in Medicine, 1/1/2015
• Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer  
  Maxwell KN, Wubbenhorst B, D'Andrea Ku, Garman B, Long JM, Powers J, Rathbun K, Stopfer JE, Zhu J, Bradbury AR, Simon MS, DeMichele A, Domchek SM, Nathanson KL, Genetics in Medicine, 1/1/2015
• A classic presentation of an uncommon leukemia  
  Maxwell KN, Porter DL, American Journal of Hematology, 1/1/2013
• Familial breast cancer risk  
  Maxwell KN, Domchek SM, Current Breast Cancer Reports, 1/1/2013
• Common breast cancer risk variants in the post-COGS era: a comprehensive review  
  Maxwell KN, Nathanson KL, Breast Cancer Research, 1/1/2013
• Cancer treatment according to BRCA1 and BRCA2 mutations  
  Maxwell KN, Domchek SM, Nature Reviews Clinical oncology, 1/1/2012
• Prophylactic Mastectomy and Risk-Reducing Salpingo-oophorectomy in BRCA1/2 Mutation Carriers  
  Maxwell KN, Domchek, SM, Current Breast Cancer Reports, 1/1/2012
• Antibodies to PCSK9: a superior way to lower LDL cholesterol?  
  Maxwell KN, Breslow JL, Circulation Research, 1/1/2012
• The incidence of both serious and minor complications in young women undergoing oocyte donation  
  Maxwell KN, Cholst IN, Rosenwaks Z, Fertility and Sterility, 1/1/2008
• Differential gene regulation of StarD4 and StarD5 cholesterol transfer proteins Activation of StarD4 by sterol regulatory element-binding protein-2 and StarD5 by endop...  
  Soccio RaE, Adams RM, Maxwell KN, Breslow JL, Journal of Biological Chemistry, 1/1/2005
• Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment  
  Maxwell KN, Fisher EA, Breslow JL, Proceedings of the National Academy of Sciences of the United States of America, 1/1/2005
• Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia  
  Maxwell KN, Breslow JL, Current Opinion in Lipidology, 1/1/2005
• Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype  
  Maxwell KN, Breslow JL, Proceedings of the National Academy of Sciences of the United States of America, 1/1/2004
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Abstracts/Posters

• Genes Everywhere: Germline, Somatic, and Circulation
  Maxwell KN, Cancer Prevention, Genetics and Epidemiology Track at the American Society of Clinical Oncology Annual Meeting, Chicago, IL, 1/1/2017
• Moving Beyond Clinical Risk Prediction Models for Cancer Susceptibility Assessment - Unexpected Results with Multiplex Panel Testing
  Maxwell KN, Clinical Sciences Symposium, American Society of Clinical Oncology Annual Meeting, Chicago, IL, 1/1/2016
• Evidence for diverse mechanisms of tumorigenesis in breast and ovarian tumors of BRCA1/2 carriers
  Maxwell, K.N., DeSloover D., Wubbenhorst, B., Wenz, B., Lunceford, N., Emery, L., D'Andrea, K., Feldman, M., Daber, R., Domchek, S.M., Nathanson, K.L., Cancer Research, 1/1/2015
• Identification of germline variants in cancer susceptibility genes in patients with multiple primary cancers
  Wenz, B., Maxwell, K.N., Wubbenhorst,B., D'Andrea, K.P., Garman, B., Long, J., Powers, J., Stopfer, J., Bradbury, A.R., DeMichele, A., Domchek, S.M., Nathanson, K.L., Cancer Research, 1/1/2015
• The contribution of high and moderate penetrance breast cancer susceptibility genes to familial breast cancer risk in BRCAx families
  Maxwell, K.N., Hart, S.N., Vijai, J, Schrader, K., Slavin, T.P., Thomas, T., Moore, R., Hu,C., Wubbenhorst, B., Domchek, S.M., Robson, M.E., Radice, P., Peterlong, P.,..., 65th Annual Meeting of The American Society of Human Genetics, 1/1/2015
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Lectures

• Inherited mutations in breast cancer patients with and without multiple primary cancers. 
  2018 ASCO Annual Meeting - Chicago, Illinois - 06/3/2018
• Inherited Genetics in Breast and Ovarian Tumorigenesis and Treatment 
  Multiple Dates and Locations - 1/1/2018
• New challenges in germline cancer risk evaluation - the interaction with advancing tumor testing technologies 
  Chicago, IL - 1/1/2017
• Variant classification and clinical benefit of gene panels for cancer susceptibility 
  1/1/2016
• Genetic Testing Today: What Genes Can Tell Us 
  Philadelphia, PA - 1/1/2016
• Characteristics of high risk breast cancer patients with mutations identified by multiplex panel testing 
  Chicago, IL - 1/1/2015
• Focus on BRCA deficient cancers 
  Philadelphia, PA - 1/1/2015
• When Worlds Collide: Genetic Counseling and Testing Conundrums in Identifying Cancer Risk for the Prenatal, Pediatric and Cancer Genetic Counselor 
  Pittsburgh, PA - 1/1/2015
• Focus on BRCA deficient and triple-negative breast cancers 
  Philadelphia, PA - 1/1/2014
• Prevalence of mutations in a panel of breast cancer susceptibility genes in patients with early onset breast cancer 
  Chicago, IL - 1/1/2014
• An adult cancer patient with biallelic BRCA2 mutations -expanding the clinical paradigm of Fanconi Anemia D1 
  Bethesda, MD - 1/1/2014
• Targeted massively parallel sequencing identifies a limited number of clinically actionable variants in women with early onset breast cancer 
  Washington, DC - 1/1/2013
• PCSK9: From microarray to clinical trial in 10 years 
  Rockefeller University, New York, NY - 1/1/2013
• Pcsk9 regulates LDL receptor function and LDL cholesterol levels 
  Readington Township, NJ - 1/1/2005
• Adenoviral mediated overexpression of the subtilisin protease Pcsk9 increases plasma LDL cholesterol levels in the mouse 
  San Francisco, CA - 1/1/2004
• Overexpression of Pcsk9 leads to the formation of an LDLR-Pcsk9 complex and acceleration of LDLR degradation 
  New Orleans, LA - 1/1/2004
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