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

Katona BW, Powers J, McKenna DB, Long JM, Le AN, Hausler R, Zelley K, Jennings S, Domchek SM, Nathanson KL, MacFarland SP, Maxwell KN: Upper Gastrointestinal Cancer Risk and Surveillance Outcomes in Li-Fraumeni Syndrome Am J Gastroenterol epub : 2020.

Maxwell KN, Wenz BM, Kulkarni A, Wubbenhorst, B, D’Andrea K, Weathers B, Goodman N, Vijai J, Lilyquist J, Hart SN, Slavin TP, Schrader KA, Ravichandran V, Thomas T, Hu C, Robson ME, Peterlong P, Bonanni B, Ford JM, Garber JE< NEuhausen SL, Shah PD, Bradbury AR, DeMichele AM, Offit K, Weitzel JN, Couch FJ, Domchek SM, Nathanson KL.: Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers JCO Precision Oncology 4 (PO.19.00301): 2020.

Paul MR, Pan TC, Pant DK, Shih NN, Chen Y, Harvey KL, Solomon A, Lieberman D, Morrissette JJ, Soucier-Ernst D, Goodman NG, Stavropoulos SW, Maxwell KN, Clark C, Belka GK, Feldman M, DeMichele A, Chodosh LA: Genomic landscape of metastatic breast cancer identifies preferentially dysregulated pathways and targets J Clin Invest 129941 : 2020.

Johnson KE, Siewert KM, Desai H, Klarin D, Damrauer SM, the VA Million Veteran Program, Chang KM, Tsao PS, Assimes TL, Maxwell KN, Voight BF: Assessing a causal relationship between circulating lipids and breast cancer risk: Mendelian randomization study PLOS Medicine In press : 2020.

Powers J, Pinto EM, Barnoud T, Leung JC, Martynyuk T, Kossenkov AV, Phillips AH, Desai H, Hausler R, Kelly G, Le AN, Li MM, MacFarland SP, Pyle LC, Zelley K, Nathanson KL, Domchek SM, Slavin TP, Weitzel JN, Stopfer JE, Garber JE, Joseph V, Offit K, Dolinsky JS, Gutierrez S, McGoldrick K, Couch FJ, Levin B, Edelman MC, Fein Levy C, Spunt SL, Kriwacki RW, Zambetti GP, Ribeiro RC, Murphy ME, Maxwell KN: A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers Cancer Res canres.1390 : 2020.

Pinto EM, Figueiredo BC, Chen W, Galvao HCR, Formiga MN, Fragoso MCBV, Ashton-Prolla P, Ribeiro EMSF, Felix G, Costa TEB, Savage SA, Yeager M, Palmero EI, Volc S, Salvador H, Fuster-Soler JL, Lavarino C, Chantada G, Vaur D, Odone-Filho V, Brugières L, Else T, Stoffel EM, Maxwell KN, Achatz MI, Kowalski L, de Andrade KC, Pappo A, Letouze E, Latronico AC, Mendonca BB, Almeida MQ, Brondani VB, Bittar CM, Soares EWS, Mathias C, Ramos CRN, Machado M, Zhou W, Jones K, Vogt A, Klincha PP, Santiago KM, Komechen H, Paraizo MM, Parise IZS, Hamilton KV, Wang J, Rampersaud E, Clay MR, Murphy AJ, Lalli E, Nichols KE, Ribeiro RC, Rodriguez-Galindo C, Korbonits M, Zhang J, Thomas MG, Connelly JP, Pruett-Miller S, Diekmann Y, Neale G, Wu G, Zambetti GP: XAF1 as a modifier of p53 function and cancer susceptibility Sci Adv 6 (26): eaba3231,2020.

Desai H, Le A, Hausler R, Verma SS, Verma A, Judy R, Doucette A, Regeneron Genetics Center, Gabriel P, Damrauer SM, Ritchie MD, Rader DJ, Kember RL, Maxwell KN: Performance of polygenic risk scores for cancer prediction in an academic biobank J Clin Oncol 38 : suppl; abstr 1528,2020.

Powers J, Morrison C, Le AN, Hausler R, Domchek SM, Nathanson KL, Garber JE, Stopfer J, Maese L, Schiffman J, Weitzel JN, MacFarland SP, Lee D, Schwartz LE, Maxwell KN: Prostate cancer incidence in male carriers of germline TP53 mutations American Society of Human Genetics Annual Meeting 2020 : 2020-A-2342-ASHG,2020.

Wineland D, Le AN, Hausler R, Kelly G, Wubbenhorst B, Symecko H, D'Andrea K, Nayak A, Feldman M, Domchek SM, Nathanson KL, Maxwell KN: The majority of primary non-breast and ovarian tumors in germline BRCA1/2 carriers do not have biallelic BRCA loss American Society of Human Genetics Annual Meeting 2020 : 2020-A-3144-ASHG,2020.

Fortuno C, Mester J, Pesaran T, Weitzel JN, Dolinsky J, Yussuf A, McGoldrick K, Garber JE, Savage SA, Khincha PP, Gareth Evans D, Achatz MI, Nichols KE, Maxwell KN, Schiffman JD, Sandoval R; Li-Fraumeni Exploration (LIFE) Consortium, James PA, Spurdle AB: Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines Hum Mutat Online ahead of print : 2020.

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Academic Contact Information

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