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

Ward A, Farengo-Clark D, McKenna DB, Safonov A, Good M, Le A, Kessler L, Shah PD, Bradbury AR, Domchek SM, Nathanson KL, Powers J, Maxwell KN.: Clinical management of TP53 mosaic variants found on germline genetic testing Cancer Genet 284-285 : 43-47,2024.

Maxwell KN, Domchek SM: Toward Application of Polygenic Risk Scores to Both Enhance and Deintensify Breast Cancer Screening J Clin Oncol 42 (13): 1462-1465,2024.

Pyle LC, Kim J, Bradfield J, Damrauer SM, D'Andrea K, Einhorn LH, Godse R, Hakonarson H, Kanetsky PA, Kember RL, Jacobs LA, Maxwell KN, Rader DJ, Vaughn DJ, Weathers B, Wubbenhorst B, Regeneron Genetics Center Research Team, Cancer Genomics Research Laboratory, Greene MH, Nathanson KL, Stewart DR.: Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes Eur Urol 85 (4): 337-345,2024.

Luo M, Wong D, Zelley K, Wu J, Schubert J, Denenberg EH, Fanning EA, Chen J, Gallo D, Golenberg N, Patel M, Conlin LK, Maxwell KN, Wertheim GB, Surrey LF, Zhong Y, Brodeur GM, MacFarland SP, Li MM.: Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence J Natl Cancer Inst : 2024.

Boruah N, Hoyos D, Moses R, Hausler R, Desai H, Le AN, Good M, Kelly G, Raghavakaimal A, Tayeb M, Narasimhamurthy M, Doucette A, Gabriel P, Feldman MJ, Park J, de Rodas ML, Schalper KA, Goldfarb SB, Nayak A, Levine AJ, Greenbaum BD, Maxwell KN: Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers biorxv 2024.04.03.588009 : 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 Pancreatic, Breast, or Metastatic Prostate Cancers J Natl Compr Canc Netw 22 (4): 2024.

Niccum BA, Coughlin S, Clay D, Heiman J, Buckley KH, Dungan M, Daniel MG, Ruiz J, Maxwell KN, Domchek SM, Leung G, Ahmad NA, Ginsberg GG, Kochman ML, Katona BW: Prevalence of H. pylori and gastric intestinal metaplasia in BRCA1 and BRCA2 carriers Cancer Prev Res : 2024.

Miyahira AK, Kamran SC, Jamaspishvili T, Marshall CH, Maxwell KN, Parolia A, Zorko NA, Pienta KJ, Soule HR: Disrupting prostate cancer research: Challenge accepted; report from the 2023 Coffey-Holden Prostate Cancer Academy Meeting Prostate : 2024.

Wadhwa A, Roscoe C, Duran EA, Kwan L, Haroldsen CL, Shelton JB, Cullen J, Knudsen BS, Rettig MB, Pyarajan S, Nickols NG, Maxwell KN, Yamoah K, Rose BS, Rebbeck TR, Iyer HS, Garraway IP: Neighborhood Deprivation, Race and Ethnicity, and Prostate Cancer Outcomes Across California Health Care Systems JAMA Netw Open 7 (3): e242852,2024.

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

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Academic Contact Information

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