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

Wang L, Desai H, Le A, Hausler R, Verma SS, Verma A, Judy R, Doucette A, Regeneron Genetics Center, Gabriel P, Mowery D, Damrauer SM, Ritchie MD, Rader DJ, Kember RL, Maxwell KN: Performance of polygenic risk scores for cancer prediction in an academic biobank Genetics in Medicine Accepted : 2021.

Maxwell KN, Cheng HH, Powers, J, Gulati R, Ledet EM, Morrison C, Le A, Hausler R, Stopfer J, Hyman S, Kohlmann W, Naumer A, Vagher J, Greenberg S, Naylor L, Laurino M, Konnick EQ, Shirts BH, Al-Dubaywan SH, Van Allen EM, Nguyen B, Vijai J, Abida W, Carlo M, Dubard-Gault M, Lee DJ, Maese LD, Mandelker D, Montgomery B, Morris MJ, Nicolosi P, Nussbaum RL, Scwartz LE, Stadler Z, Garber JE, Offit K, Schiffman JD, Neslon PS, Sartor O, Walsh MF, Pritchard CC: Inherited TP53 variants and risk of prostate cancer Eur Urol Accepted : 2021.

Lee DJ, Hausler R, Le AN, Kelly G, Powers J, Ding J, Feld E, Desai H, Morrison C, Doucette A, Gabriel P, Genetics Center R, Judy RL, Weaver J, Kember R, Damrauer SM, Rader DJ, Domchek SM, Narayan V, Schwartz LE, Maxwell KN.: Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer Eur Urol : 2021.

Pinto EM, Maxwell KN, Halalsheh H, Phillips A, Powers J, MacFarland S, Walsh MF, Breen K, Formiga MN, Kriwacki R, Nichols KE, Mostafavi R, Wang J, Clay MR, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP.: Clinical and Functional Significance of TP53 Exon 4-Intron 4 Splice Junction Variants Mol Cancer Res : 2021.

Kratz CP, Freycon C, Maxwell KN, Nichols KE, Schiffman JD, Evans DG, Achatz MI, Savage SA, Weitzel JN, Garber JE, Hainaut P, Malkin D.: Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis JAMA Oncol : 2021.

Katona BW, Long JM, Ahmad NA, Attalla S, Bradbury AR, Carpenter EL, Clark DF, Constantino G, Das KK, Domchek SM, Dudzik C, Ebrahimzadeh J, Ginsberg GG, Heiman J, Kochman ML, Maxwell KN, McKenna DB, Powers J, Shah PD, Wangensteen KJ, Rustgi AK: EUS-based Pancreatic Cancer Surveillance in BRCA1/BRCA2/PALB2/ATM Carriers Without a Family History of Pancreatic Cancer Cancer Prev Res epub : 2021.

Yu S, Le AN, Feld E, Schriver E, Gabriel P, Doucette A, Narayan V, Feldman M, Schwartz LE, Maxwell KN*, Mowery DL* (*equal contribution): Development of an NLP-Assisted Extraction System for Gleason Scores: Combining the Strengths of Humans and Machines J Med Inf Res Cancer 7 (3): e27970,2021.

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J; KConFab Investigators; HEBON Investigators, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2.: Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores J Natl Cancer Inst epub : 2021.

CD8+ T cells contribute to survival in patients with COVID-19 and hematologic cancer., Bange EM, Han NA, Wileyto P, Kim JY, Gouma S, Robinson J, Greenplate AR, Hwee MA, Porterfield F, Owoyemi O, Naik K, Zheng C, Galantino M, Weisman AR, Ittner CAG, Kugler EM, Baxter AE, Oniyide O, Agyekum RS, Dunn TG, Jones TK, Giannini HM, Weirick ME, McAllister CM, Babady NE, Kumar A, Widman AJ, DeWolf S, Boutemine SR, Roberts C, Budzik KR, Tollett S, Wright C, Perloff T, Sun L, Mathew D, Giles JR, Oldridge DA, Wu JE, Alanio C, Adamski S, Garfall AL, Vella LA, Kerr SJ, Cohen JV, Oyer RA, Massa R, Maillard IP, Maxwell KN, Reilly JP, Maslak PG, Vonderheide RH, Wolchok JD, Hensley SE, Wherry EJ, Meyer NJ, DeMichele AM, Vardhana SA, Mamtani R, Huang AC.: CD8 + T cells contribute to survival in patients with COVID-19 and hematologic cancer Nat Med 27 (7): 1280-1289,2021.

Lim TL, Lieberman DB, Davis AR, Loren AW, Hausler R, Bigdeli A, Li Y, Powers J, Raper A, Regeneron Genetics Center, Carty SA, Nathanson KL, Bagg A, Hexner EO, Maxwell KN, Morrissette JJD, Babushok DV.: Germline POT1 variants can predispose to myeloid and lymphoid neoplasms Leukemia epub : 2021.

View all publications

Academic Contact Information

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