UMass Boston

Cancer Biology, Breast and Ovarian Cancer, DNA Repair , Transcriptomics

PhD, University of Texas at Austin, Austin, TX
MS, Biotechnology, Indian Institute of Technology (IIT) Mumbai, India
BS, Chemistry, Miranda House, Delhi University, India

• He Y.#, Rivera J.#, Diossy M., Bowman-Colin C., Duan H., Reed R., Jennings R., Novak J., Tran S.V., Cohen E.F., Giobbie-Hurder G., Bronson R.T., Bass A.J., Signoretti S., Szallasi Z., Livingston D.M, Pathania S. #Equal contribution. BRCA1/Trp53 Heterozygosity and Replication Stress Drive Esophageal Cancer Development in a Mouse Model. Proceedings of the National Academy of Sciences. 118 (2021).
• Iyer S, Iyer S, Zhang S, Horn H, Smith SG , Yucel S, Reinhard F, Hoefsmit E, Assatova B, Casado J, Meinsohn MC, Barrasa, M., Bell, G.W., Pérez-Villatoro, F., Huhtinen, K., Hynninen, J., Oikkonen, J., Galhenage, P.M., Pathania, S., Hammond P.T., Neel B.G., Farkkila, A., Pépin, D., and Weinberg R.A. Genetically Defined Syngeneic Mouse Models of Ovarian Cancer as Tools for the Discovery of Combination Immunotherapy. Cancer Discovery 11, 384–407 (2021).
• Duan H, Mansour S, Reed, R, Gillis MK, Parent B, Liu B, Sztupinszk Z, Birkbak N, Szallasi Z, Elia A., Garber JE, Pathania, S. E3 ligase RFWD3 is a novel modulator of stalled fork stability in BRCA2-deficient cells. J Cell Biol 219 (2020).
• Duan H, Pathania S. RPA, RFWD3 and BRCA2 at Stalled Forks: A Balancing Act. Molecular and Cellular Oncology 10.1080/23723556.2020.1801089 (2020).
• Zervantonakis, I. K. Poskus MD, Scott AL, Selfors LM, Lin J, Dillon DA, Pathania S, Sorger PK, Mills GB, Brugge JS. Fibroblast-tumor cell signaling limits HER2 kinase therapy response via activation of MTOR and antiapoptotic pathways. Proceedings of the National Academy of Sciences 117, 16500–16508 (2020).
• Maertens O, Kuzmickas R, Manchester HE, Emerson CE, Gavin AG, Guild CJ, Wong TC, De Raedt T, Bowman-Colin C, Hatchi E, Garraway LA, Flaherty KT, Pathania S, Elledge SJ, Cichowski K. “MAPK Pathway Suppression Unmasks Latent DNA Repair Defects and Confers a Chemical Synthetic Vulnerability in BRAF-, NRAS-, and NF1-Mutant Melanomas. Cancer Discovery. (2019).
• Pathania S., & Garber, J. E. “Mixing Mutation Location with Carcinogen Exposure: A Recipe for Tissue Specificity in BRCA2-Associated Cancers?” JNCI Journal of the National Cancer Institute 110, 925–926 (2018).
• Birkbak NJ*, Li Y*, Pathania S*, Greene-Colozzi A, Dreze M, Bowman-Colin C, Sztupinszki Z, Krzystanek M, Diossy M, Tung N, Ryan PD, Garber JE, Silver DP, Iglehart JD, Wang ZC, Szuts D, Szallasi Z, Richardson AL. *Equal contribution. “Overexpression of BLM promotes DNA damage and increased sensitivity to platinum salts in triple negative breast and serous ovarian cancers.” Ann Oncol. 29, 903–909 (2018)
• Wang, H, Bierie, B, Li, AG, Pathania, S, Toomire, K., Dimitrov, S. D., Ben Liu, Gelman, R., Giobbie-Hurder, A., Feunteun, J., Polyak, K, and Livingston, DM. BRCA1/FANCD2/BRG1-Driven DNA Repair Stabilizes the Differentiation State of Human Mammary Epithelial Cells. Mol Cell 63, 277–292 (2016).
• Hatchi E., Skourti-Stathaki K., Ventz S., Pinello L., Yen A., Kamieniarz-Gdula K., Dimitrov. S, Pathania, S., McKinney, K., Eaton, M. L., Kellis, M., Hill, S. J., Parmigiani, G., Proudfoot, N. J., Livingston, D. M. BRCA1 recruitment at transcriptional pause sites is required for R-loop-driven DNA damage repair. Mol. Cell. 2015 Feb 19; 57(4); 636-647.
• Pathania, S*., Bade S., Le Guillou M., Burke K., Su Y., Reed R., Ting D., Polyak K., Richardson AL., Feunteun J., Garber J.E., Livingston DM* (*co-corresponding authors). (2014) BRCA1 Haploinsufficiency for Replication Stress Suppression in Primary Cells. Nature Communications. 2014 Nov 17; 5:5496.
• Dimitrov, S. D., Lu D., Naetar N., Hu Y., Pathania S., Kanellopoulou C., Livingston D. M. (2013). Physiological modulation of endogenous BRCA1 p220 abundance suppresses DNA damage during the cell cycle. Genes Dev. 27(20): 2274-91. PMCID: PMC3814647.
• Pathania S., Nguyen J., Hill S. J., Scully R., Feunteun J., Livingston, D. M. (2011). BRCA1 is required for post replication repair after UV-induced DNA damage. Mol Cell, 2011 Oct. 44(2):235-51

The primary research interest of Shailja Pathania's laboratory is to understand 1) how and when normal, presumably healthy cells become tumor cells, and 2) how can we leverage these mechanistic insights to design better preventive and therapeutic treatment strategies. We are addressing these questions in the setting of hereditary breast and ovarian cancer by studying genes like BRCA1, BRCA2, PALB2, Rad51C and others. Women with mutations in hereditary cancer genes, BRCA1 and BRCA2, are highly predisposed to breast cancer (lifetime risk 50-80%), ovarian cancer (lifetime risk 15-40%), and men with mutations in BRCA2 are predisposed to pancreatic, and prostate cancer. How a normal, presumably healthy cell in these mutation carriers transforms into a tumor cell is largely unknown.

Our ongoing projects aim to give us a better understanding of the different functions of these cancer predisposing genes, with special focus on DNA damage repair function, given that it is the most commonly disrupted function in the tumor cells of the mutation carriers. We are addressing these questions in primary cells derived from patient tissues, as well as in transgenic mouse models.

Postdoctoral Fellowship in Dr. David Livingston’s lab at Dana Farber Cancer Institute and Harvard Medical School.

• Endowed Faculty Career Development Award, University of Massachusetts Boston (2019).
• Recipient of the 2013 Susan G. Komen for the Cure Career Catalyst Research Grant.
• Recipient of James P. Allison Fellowship for Research at the University of Texas at Austin.
• Recipient of the Outstanding Dissertation Award at the University of Texas at Austin.