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