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.
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.
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
Greg Kelly (Lab Manager)
Heena Desai (Bioinformatician)
Ryan Hausler (Bioninformatician)
Maddy Good (Research Specialist)
Anh Le (Clinical Research Coordinator)
Shun Yu MD
Louise Wang MD
Buckley KH, Niccum BA, Maxwell KN, Katona BW.: Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers Cancers (Basel) 14 : 5953,2022.
Sun L, Candelieri-Surette D, Anglin-Foote T, Lynch JA, Maxwell KN, D'Avella C, Singh A, Aakhus E, Cohen RB, Brody RM: Cetuximab-Based vs Carboplatin-Based Chemoradiotherapy for Patients With Head and Neck Cancer JAMA Otolaryngol Head Neck Surg 148 (11): 1022-1028,2022.
Sun L, Candelieri-Surette D, Anglin-Foote T, Lynch JA, Maxwell KN, D'Avella C, Singh A, Aakhus E, Cohen RB, Brody RM.: Cetuximab-Based vs Carboplatin-Based Chemoradiotherapy for Patients With Head and Neck Cancer JAMA Otolaryngol Head Neck Surg 148 : 1022-1028,2022.
Shah JB, Pueschl D, Wubbenhorst B, Fan M, Pluta J, D'Andrea K, Hubert AP, Shilan JS, Zhou W, Kraya AA, Llop Guevara A, Ruan C, Serra V, Balmaña J, Feldman M, Morin PJ, Nayak A, Maxwell KN, Domchek SM, Nathanson KL.: Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers Nat Commun 13 : 6728,2022.
Maxwell KN, Patel V, Nead KT, Merrill S, Clark D, Jiang Q, Wubbenhorst B, D'Andrea K, Cohen RB, Domchek SM, Morrissette JJD, Greenberg RA, Babushok DV, Nathanson KL.: Fanconi Anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood Clin Genet : 2022.
Newman H, Long JM, Zelley K, Baldino S, Li MM, Maxwell KN, MacFarland SP.: Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome Clin Genet : 2022.
Sun L, Brody R, Candelieri D, Anglin-Foote T, Lynch JA, Maxwell KN, Damrauer S, Ojerholm E, Lukens JN, Cohen RB, Getz KD, Hubbard RA, Ky B.: Association Between Up-front Surgery and Risk of Stroke in US Veterans With Oropharyngeal Carcinoma JAMA Otolaryngol Head Neck Surg 148 : 740-747,2022.
Sen M, Hausler RM, Dulmage K, Black TA, Murphy W, Pletcher CH Jr, Wang L, Chen C, Yee SS, Bornheimer SJ, Maxwell KN, Stanger BZ, Moore JS, Thompson JC, Carpenter EL.: Transcriptional profiling of single tumour cells from pleural effusions reveals heterogeneity of epithelial to mesenchymal transition and extra-cellular matrix marker expression Clin Transl Med : 2022.
Rebbeck TR, Mahal B, Maxwell KN, Garraway IP, Yamoah K.: The distinct impacts of race and genetic ancestry on health Nat Med : 2022.
Bradbury AR, Lee JW, Gaieski JB, Li S, Gareen IF, Flaherty KT, Herman BA, Domchek SM, DeMichele AM, Maxwell KN, Onitilo AA, Virani S, Park S, Faller BA, Grant SC, Ramaekers RC, Behrens RJ, Nambudiri GS, Carlos RC, Wagner LI.: A randomized study of genetic education versus usual care in tumor profiling for advanced cancer in the ECOG-ACRIN Cancer Research Group (EAQ152) Cancer 128 (7): 1381-1391,2022.
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Academic Contact Information
BRB Room 810
421 Curie Blvd
Patient appointments: 800-789-7366