Gene-Environment Interactions in Cancer Initiation and Progression

Gene-Environment Interactions in Cancer Initiation and Progression

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Age-old epidemiologic studies indicate that cancer is influenced by environmental factors. While some factors act by altering mutation rates, others work through epigenetic mechanisms that we suspect blunt tumor-suppressive programs and/or alter cell state. Our initial foray into cancer epigenetics involved efforts to understand how mutations in chromatin remodeling factors promote cancer (1, 2) and through functional genomics screens to identify cancer vulnerabilities (3, 4).

In a new line of research, we have begun to study how epigenetic programs contribute to gene–environment interactions in cancer. As one paradigm (5), we explored how tissue damage/inflammation accelerates Kras-driven early neoplasia in the pancreas. With Dana Pe’er, we defined the specific epigenetic programs that distinguish early neoplasia from normal regeneration and characterized cell state and cell-cell communication changes unique to damage-induced neoplasia (Figure 1) (6, 7). These studies show that inflammation and Kras mutations cooperate to stimulate the emergence of cells with cancer-like epigenetic states within 48 hours of tissue damage. We continue to study how inflammation and other environmental factors influence the output of cancer-promoting gene mutations. Understanding these processes may reveal new vulnerabilities not predicted through genetics alone. 

Figure 1. Cell states and cell-cell communication in early pancreatic tumorigenesis inferred from multiplexed single-molecule fluorescence in situ hybridization (lower left) and single-cell RNA sequence data (lower right) (57). Mouse illustration was created with BioRender (www.biorender.com).

Figure 1. Cell states and cell-cell communication in early pancreatic tumorigenesis inferred from multiplexed single-molecule fluorescence in situ hybridization (lower left) and single-cell RNA sequence data (lower right) (57). Mouse illustration was created with BioRender (www.biorender.com).

References

1.      Livshits G, Alonso-Curbelo D, Morris JPt, Koche R, Saborowski M, Wilkinson JE, Lowe SW. Arid1a restrains Kras-dependent changes in acinar cell identity. Elife. 2018;7.

2.      Zhu C, Soto-Feliciano YM, Morris JP, Huang CH, Koche RP, Ho YJ, Banito A, Chen CW, Shroff A, Tian S, Livshits G, Chen CC, Fennell M, Armstrong SA, Allis CD, Tschaharganeh DF, Lowe SW. MLL3 regulates the CDKN2A tumor suppressor locus in liver cancer. Elife. 2023;12.

3.      Banito A, Li X, Laporte AN, Roe JS, Sanchez-Vega F, Huang CH, Dancsok AR, Hatzi K, Chen CC, Tschaharganeh DF, Chandwani R, Tasdemir N, Jones KB, Capecchi MR, Vakoc CR, Schultz N, Ladanyi M, Nielsen TO, Lowe SW. The SS18-SSX oncoprotein hijacks KDM2B-PRC1.1 to drive synovial sarcoma. Cancer Cell. 2018;33(3):527-41 e8.

4.      Soto-Feliciano YM, Sanchez-Rivera FJ, Perner F, Barrows DW, Kastenhuber ER, Ho YJ, Carroll T, Xiong Y, Anand D, Soshnev AA, Gates L, Beytagh MC, Cheon D, Gu S, Liu XS, Krivtsov AV, Meneses M, de Stanchina E, Stone RM, Armstrong SA, Lowe SW, Allis CD. A molecular switch between mammalian MLL complexes dictates response to menin-MLL inhibition. Cancer Discov. 2023;13(1):146-69.

5.      Guerra C, Schuhmacher AJ, Cañamero M, Grippo PJ, Verdaguer L, Pérez-Gallego L, Dubus P, Sandgren EP, Barbacid M. Chronic pancreatitis is essential for induction of pancreatic ductal adenocarcinoma by K-Ras oncogenes in adult mice. Cancer Cell. 2007;11(3):291-302.

6.      Alonso-Curbelo D, Ho YJ, Burdziak C, Maag JLV, Morris JP 4th, Chandwani R, Chen HA, Tsanov KM, Barriga FM, Luan W, Tasdemir N, Livshits G, Azizi E, Chun J, Wilkinson JE, Mazutis L, Leach SD, Koche R, Pe’er D, Lowe SW. A gene-environment-induced epigenetic program initiates tumorigenesis. Nature. 2021;590(7847):642-8.

7.      Burdziak C, Alonso-Curbelo D, Walle T, Reyes J, Barriga FM, Haviv D, Xie Y, Zhao Z, Zhao CJ, Chen HA, Chaudhary O, Masilionis I, Choo ZN, Gao V, Luan W, Wuest A, Ho YJ, Wei Y, Quail DF, Koche R, Mazutis L, Chaligné R, Nawy T, Lowe SW, Pe’er D. Epigenetic plasticity cooperates with cell-cell interactions to direct pancreatic tumorigenesis. Science. 2023;380(6645):eadd5327.