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 breast and prostate cancers, and in determinants of disease penetrance.

Maxwell Lab
https://www.med.upenn.edu/kmaxwelllab/
We are a translational human genetics and genomics research laboratory studying mechanisms of tumor formation in inherited cancer syndromes. We have a focus on breast and prostate cancer, but are interested in the broad range of tumor types affected by DNA repair deficiency. We are using multi-omics analyses of human samples coupled with in vitro and in vivo modelling systems to understand how tumors form in patients with inherited cancers. We are also interested in environmental and other determinants of disease penetrance in patients at risk for breast and prostate cancer.

In order to perform our studies, we leverage the resources of the Basser Center for BRCA (https://www.basser.org/) and the Penn Medicine Biobank (https://www.itmat.upenn.edu/biobank/). We take a multi-disciplinary approach, collaborating with our colleagues across basic science labs and the clinical arena.

Rotation/Postdoc projects:
1) Mechanisms of tumor formation in CHEK2 mutation carriers
2) Prostate Cancer Genetics
3) Determinants of penetrance and advances in clinical management of low risk TP53 mutation carriers
4) Utility of polygenic risk scores in cancer risk
5) Extreme cholesterol lowering in breast cancer

Lab Members:
Greg Kelly (Lab Manager)
Heena Desai (Bioinformatician)
Ryan Hausler (Bioninformatician)
Maddy Good (Research Specialist)
Anh Le (Clinical Research Coordinator)

Students:
Jimmy Ding

Fellows:
Shun Yu MD
Louise Wang MD

Selected Publications

Maxwell KN, Domchek SM.: Toward Application of Polygenic Risk Scores to Both Enhance and Deintensify Breast Cancer Screening J Clin Oncol JCO2400029 : 2024.

Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani NL, Dymek M, Desai H, Hausler R, Hicks B, Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ.: Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival J Natl Cancer Inst 10 (116): 149-159,2024.

Latham A, MacFarland SP, Walsh MF, Maxwell KN, Stadler ZK.: Is It Time to Incorporate Liquid Biopsy into High-Risk Cancer Surveillance Protocols in Li-Fraumeni Syndrome? Cancer Discov 14 (1): 23-25,2024.

Vapiwala N, Maxwell KN.: "Likely Pathogenic Heterozygous ATM Gene Mutation": Not Always What It Seems Int J Radiat Oncol Biol Phys 118 (1): 10,2024.

de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT, BioBank PM, Center RG, Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA: Genome-First Approach of the Prevalence and Cancer Phenotypes of Pathogenic or Likely Pathogenic Germline TP53 Variants HGG Adv 5 (1): 100242,2024.

Pinto EM, Fridman C, Figueiredo BC, Salvador H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP.: Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility HGG Adv 5 (1): 100244,2024.

Shevach JW, Candelieri-Surette D, Lynch JA, Hubbard RA, Alba PR, Glanz K, Parikh RB, Maxwell KN: Racial Differences in Germline Genetic Testing Completion Among Males With Pancreas, Breast and Metastatic Prostate Cancers J Natl Compr Canc Netw in press : 2023.

Lin JK, Hearn CM, Getzen E, Long Q, Lee DC, Keaveny TM, Jayadevappa R, Robinson KW, Wong YN, Maxwell KN, Narayan V, Haas NB, Takvorian SU, Bikle DD, Chiang JM, Khan AN, Rajapakse CS, Morgans AK, Parikh RB.: Validation of Biomechanical Computed Tomography for Fracture Risk Classification in Metastatic Hormone-sensitive Prostate Cancer Eur Urol Oncol S2588-9311 (23): 00230-4,2023.

Daly MB, Pal T, Maxwell KN, Churpek J, Kohlmann W, AlHilli Z, Arun B, Buys SS, Cheng H, Domchek SM, Friedman S, Giri V, Goggins M, Hagemann A, Hendrix A, Hutton ML, Karlan BY, Kassem N, Khan S, Khoury K, Kurian AW, Laronga C, Mak JS, Mansour J, McDonnell K, Menendez CS, Merajver SD, Norquist BS, Offit K, Rash D, Reiser G, Senter-Jamieson L, Shannon KM, Visvanathan K, Welborn J, Wick MJ, Wood M, Yurgelun MB, Dwyer MA, Darlow SD.: NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 J Natl Compr Canc Netw 21 (10): 1000-1010,2023.

Kim J, Vaksman Z, Egolf LE, Kaufman R, Evans JP, Conkrite KL, Danesh A, Lopez G, Randall MP, Dent MH, Farra LM, Menghani N, Dymek M, Desai H, Hausler R; Penn Medicine BioBank; Regeneron Genetics Center; Cancer Genomics Research Laboratory; Auvil JG, Gerhard DS, Hakonarson H, Maxwell KN, Cole KA, Pugh TJ, Bosse KR, Khan J, Wei JS, Maris JM, Stewart DR, Diskin SJ.: Germline pathogenic variants in 786 neuroblastoma patients J Natl Cancer Inst djad183 : 2023.

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Academic Contact Information

BRB Room 810
421 Curie Blvd
Philadelphia, PA 19104
Patient appointments: 800-789-7366