Faculty

Kara N Maxwell, MD, PhD

Assistant Professor of Medicine (Hematology-Oncology)

Department: Medicine

Graduate Group Affiliations

Contact information

BRB Room 810
421 Curie Blvd
Philadelphia, PA 19104

Email:
kara.maxwell@pennmedicine.upenn.edu

Publications

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Education:
BS (Genetics, Biochemistry)
University of Wisconsin-Madison, 1998.
PhD (Molecular and Cellular Biology)
Rockefeller University, 2006.
MD (Medicine)
Weill Cornell Medical College, 2007.

Links
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Permanent link

> Perelman School of Medicine > Faculty > Details

Description of Clinical Expertise

cancer risk evaluation, breast cancer risk, hereditary breast ovarian cancer, Li Fraumeni Syndrome, Fanconi Anemia

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.

For our work in prostate cancer genetics, we leverage the resources of the Basser Center for BRCA (https://www.basser.org/), the Penn Medicine Biobank (https://www.itmat.upenn.edu/biobank/), the Veterans' Affairs and Prostate Cancer Foundation Partnership (https://www.pcf.org/va-partnership/) and the VA Million Veterans' Program (https://www.mvp.va.gov/). Dr. Maxwell is the Director of the Basser Center’s Men and BRCA program (https://www.basser.org/brca/brca-men).

We are actively involved in many aspects of basic, translational and clinical research in Li Fraumeni Syndrome, caused by germline TP53 disease causing variants. We are one of the founding members of the EDISYN consortium (https://www.edisyn.org/) to study early cancer detection in patients with Li Fraumeni Syndrome, and we are active participants in the LIFTUp study (https://liftupstudy.org/).

We take a multi-disciplinary approach, collaborating with our colleagues across basic science labs and the clinical arena. Our research is funded by the National Cancer Institute, the Veterans’ Affairs Office of Research amd Development, the Prostate Cancer Foundation, the Burroughs Wellcome Foundation, the Li Fraumeni Syndrome Association and the Basser Center for BRCA.

Contact us for more details on rotation and post-doc projects in the fields of:
- Prostate cancer genetics
- BRCA1/2 cancers in men
- Li Fraumeni Syndrome and TP53-related disorders
- Mutational signatures in Veteran tumors

Lab Members 2024-25:
Greg Kelly MS, Lab Manager
Caitlin Orr PhD, Penn Project Manager
Leslie Grush AuD, VA Project Manager
KJ Johnson, Lab Administrative Assistant
Heena Desai MS, Bioinformatician
Ryan Hausler MS, Bioninformatician
Renyta Moses, CAMB Cancer Biology PhD Student
Taylor Crawford, CAMB Cancer Biology PhD Student
Nabamita Boruah PhD, Postdoctoral Fellow
Anh Le DO, Medicine Intern
Maliha Tayeb, Clinical Research Coordinator
Michael Wang, Clinical Research Coordinator
Rosella Delgado, Genetic Counseling Assistant
Sophia Spiegel, Penn Medical Student
Jillian O'Toole, Penn MS GC Student

Selected Publications

Corbett RJ, Kaufman RS, McQuaid SW, Vaksman Z, Phul S, Brown MA, Mason JL, Waszak SM, Zhang B, Zhong C, Desai H, Hausler R, Naqvi AS, Chroni A, Geng Z, Gonzalez EM, Zhu Y, Heath AP, Li M; Penn Medicine BioBank; Regeneron Genetics Center; Storm PB, Resnick AC, Maxwell KN, Cole KA, Waanders AJ, Bornhorst M, MacFarland SP, Rokita JL, Diskin SJ: Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors. Nat Commun 16(1): 10282, Nov 2025 Notes: doi: 10.1038/s41467-025-65190-4.

Buckley KH, Dungan ME, Dinh K, Kelly GM, Hausler R, Bennett KE, Clay DG, Youngman JE, Majer AD, Beyries KA, Niccum BA, Shaffer SM, Karakasheva TA, Hamilton KE, Kochman ML, Ginsberg GG, Ahmad N, Maxwell KN, Katona BW: Gastric epithelium from BRCA1 and BRCA2 carriers harbors increased double-stranded DNA damage and augmented growth. biorxv 10.01.679809, Oct 2025 Notes: DOI: 10.1101/2025.10.01.679809.

Johnatty SE, Tudini E, Parsons MT, Michailidou K, Zanti M, Canson D, Davidson AL, Berger T, Rosti RO, Kratz CP, Kalb R, McReynolds LJ, Giri N, Richardson M, Pesaran T, Surrallés J, Pujol R, Vundinti BR, George M, Maxwell KN, Nathanson K, Domchek S, Fiesco-Roa MÓ, Frias S, Garcia-de-Teresa B, Jongmans M, Lalani S, Maiburg M, Prescott K, Robinson R, Rajagopalan S, Blok LS, Temple SEL, Tucker K, Auerbach AD, Cancio MI, Kennedy JA, MacMillan ML, Tryon R, Wagner JE, Walsh M, Boddicker NJ, Hu C, Weitzel JN, Dingemans AJM, Hadler J, Rotenberg N, Ramadane-Morchadi L, de la Hoya M, James P, Van Overeem Hansen T, Vreeswijk MPG, Walker LC, Sharan SK, Easton DF, Couch F, Smogorzewska A, Nelson A, Ngeow J, Tischkowitz M, Gomez-Garcia E, Spurdle AB.: BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes. Am J Hum Genet 112(12): 2902-2921, Oct 2025 Notes: DOI: 10.1016/j.ajhg.2025.10.007.

Raychaudhuri R, Garraway IP, Maxwell KN, Rettig M, Desai H, Schoen MW, Schweizer MT, Beltran H, Nelson PS, Montgomery B.: Prognostic Significance of RB1 Alterations on Outcomes in Metastatic Prostate Cancer. JCO Precis Oncol e2500341, Sep 2025 Notes: doi: 10.1200/PO-25-00341.

Skuli SJ, Bakayoko A, Kruidenier M, Manning B, Pammer P, Salimov A, Riley O, Brake-Sillá G, Dopkin D, Bowman M, Martinez-Gutierrez LN, Anderson CC, Reisz JA, Buono R, Paul M, Saland E, Liccardo F, DeVine A, Wong S, Xu JP, Nee E, Hausler R, Boettcher S, Sebti SM, Lai C, Maxwell KN, Sarry JE, Fruman DA, D'Alessandro A, Mesaros C, Keith B, Simon MC, Sung PJ, Wertheim G, Skuli N, Bowman RL, Matthews A, Carroll M: Chemoresistance of TP53 mutant acute myeloid leukemia requires the mevalonate byproduct, geranylgeranyl pyrophosphate, for induction of an adaptive stress response. Leukemia 39(9): 2087-2098. Sep 2025.

Crawford TB, Nelson T, Karunamuni R, Desai H, Hausler R, Teerlink C, Carter H, Pagadala MS, Alba PR, DuVall SL, Danowski ME, Brunette CA, Ratner D, Garraway IP, Rose BS, Cooney KA, Vassy JL, Hauger RL, Lynch JA, Seibert TM, Maxwell KN: Association of HOXB13 G84E with prostate cancer among 592,158 men. J Natl Compr Canc Netw 23(10): e257055, Sep 2025 Notes: doi: 10.6004/jnccn.2025.7055.

Fischer NW, Ong N, Laverty B, Psarianos P, Giovino C, Alon N, Montellier E, Hainaut P, Maxwell KN, Kratz CP, Kafri R, Malkin D: TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup. Nat Commun 16(1): 8546, Sep 2025 Notes: doi: 10.1038/s41467-025-63528-6.

Crawford TB, Tayeb M, Barrett E, Al-Saleem T, Kondam P, Hausler R, Symecko H, Orr C, Wolfe C, Mann D, Spielman K, Wong G, Haas N, Narayan V, Robinson K, Takvorian S, Wong YN, Sokolova A, Montgomery RB, Menendez C, Kelley MJ, Aiello LB, Garraway IP, Domchek SM, Maxwell KN: Pathogenic germline variants in a racially diverse real-world cohort of prostate cancer patients. medrxiv 2025.08.13.25333614, Aug 2025 Notes: doi: 10.1101/2025.08.13.25333614.

Cappadocia J, Maxwell KN, Nathanson KL, Bagley S, Powers J, Halper-Stromberg E, Roth JJ, Domchek S, Shah PD.: Exploration of possible association of BRIP1 pathogenic variants with central nervous system cancers in an institutional cohort. J Med Genet jmg-2025-11076, Aug 2025 Notes: DOI: 10.1136/jmg-2025-110764

Fernandes CJ, Du YK, Naumer A, Kagami LA, Le A, Good M, Duvall M, Powers J, Zelley K, Maese L, MacFarland S, Kohlmann W, Maxwell KN, Katona BW: Pancreatic Cancer Risk and Screening Outcomes in Li-Fraumeni Syndrome. Pancreas 54(7): e618-e623. Aug 2025.