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. 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