Description of Research Expertise:
I am a Medical Oncologist with postdoctoral training in Cancer Genetics and PhD training in molecular and cellular biology. My research interests are in the genetics of human disease, particularly familial cancers, and in the translation of genetic data for managing individuals at risk for cancer. My laboratory is using human genetic and genomic data coupled with model systems to study mechanisms of cancer formation in patients with inherited forms of breast and prostate cancer.
MacFarland SP, Zelley K, Long JM, McKenna D, Mamula P, Domchek SM, Nathanson KL, Brodeur GM, Rustgi AK, Katona BW, Maxwell KN: Earlier colorectal cancer screening may be necessary in patients with Li-Fraumeni Syndrome. Gastroenterology 5085 (18): 35028-5,2018.
MacFarland SP, Maxwell KN: The differential diagnosis of a TP53 genetic testing result Genetics in Medicine epub ahead of print : 2018.
Breitenstein MK, Liu H, Maxwell KN, Pathak J, Zhang R: Electronic health record phenotypes for precision medicine: perspectives and caveats from treatment of breast cancer at a single institution Clinical and Translational Science 11 (1): 85-92,2018.
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 R, Morrissette JJD, Mitra N, Feldman M, Domchek SM, Nathanson KL.: BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers Nature Communications 8 (1): 319,2017.
Nian X, Nagai Y, Jeffers C, Maxwell KN, Zhang H: Dietary influence on estrogens and cytokines in breast cancer AIMS Molecular Science 4 (3): 252-270,2017.
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'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ (*shared first authorship): The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk NPJ Breast Cancer 3 : 22,2017.
Chen H, Jiang Y, Maxwell KN, Nathanson KL, Zhang N.: Allele-specific copy number estimation by whole exome sequencing Ann Appl Stat 11 (2): 1169-1192,2017.
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, Carpenter E, Chodosh LA, DeMichele A: Comparative clinical utility of tumor genomic testing and cell-free DNA in metastatic breast cancer. Breast Cancer Research and Treatment 164 (3): 627-638,2017.
Maxwell KN, Domchek SM, Nathanson KL, Robson ME: Population Frequency of Germline BRCA1/2 Mutations. Journal of Clinical Oncology 34 (34): 4183-4185,2016.
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 SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Domchek S, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K: A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. Cancer Discovery 6 (11): 1267-1275,2016.
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