Genetic Mutations Associated with Hormone-Positive Breast Cancer in a Small Cohort of Ethiopian Women

Springer Science and Business Media LLC - Tập 49 Số 8 - Trang 1900-1908 - 2021
Alyssa D. Schwartz1, Afua Adusei2, Solomon Tsegaye3, Christopher A. Moskaluk4, Sallie S. Schneider2, Manu O. Platt5, Daniel Seifu3, Shelly R. Peyton2, Courtney C. Babbitt6
1Department of Chemical Engineering, University of Massachusetts Amherst, Amherst, MA, USA
2Molecular and Cell Biology Graduate Program, University of Massachusetts Amherst, Amherst, MA, USA
3Department of Biochemistry, School of Medicine, Addis Ababa University, Addis Ababa, Ethiopia
4Department of Pathology, University of Virginia Health System, Charlottesville, USA
5Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta, USA
6Department of Biology, University of Massachusetts Amherst, Amherst, MA, USA

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Abbad, A., H. Baba, H. Dehbi, M. Elmessaoudi-Idrissi, Z. Elyazghi, O. Abidi, and F. Radouani. Genetics of breast cancer in African populations: a literature review. Glob. Health Epidemiol Genom. 3:2018. https://doi.org/10.1017/gheg.2018.8.

Adair-Kirk, T.L., J. J. Atkinson, T. J. Broekelmann, M. Doi, K. Tryggvason, J. H. Miner, R. P. Mecham, R. M. Senior. A site on laminin alpha 5, AQARSAASKVKVSMKF, induces inflammatory cell production of matrix metalloproteinase-9 and chemotaxis. J. Immunol. 171(1):398-406, 2003. https://doi.org/10.4049/jimmunol.171.1.398.

Aguilar, H., A. Urruticoechea, P. Halonen, K. Kiyotani, T. Mushiroda, X. Barril, J. Serra-Musach, A. Islam, L. Caizzi, L. Di Croce, E. Nevedomskaya, W. Zwart, J. Bostner, E. Karlsson, G. Perez Tenorio, T. Fornander, D. C. Sgroi, R. Garcia-Mata, M. P. Jansen, N. Garcia, N. Bonifaci, F. Climent, M. T. Soler, A. Rodriguez-Vida, M. Gil, J. Brunet, G. Martrat, L. Gomez-Baldo, A. I. Extremera, A. Figueras, J. Balart, R. Clarke, K. L. Burnstein, K. E. Carlson, J. A. Katzenellenbogen, M. Vizoso, M. Esteller, A. Villanueva, A. B. Rodriguez-Pena, X. R. Bustelo, Y. Nakamura, H. Zembutsu, O. Stal, R. L. Beijersbergen, and M. A. Pujana. VAV3 mediates resistance to breast cancer endocrine therapy. Breast Cancer Res. 16(3):R53, 2014. https://doi.org/10.1186/bcr3664.

Antoniou, A., P. D. Pharoah, S. Narod, H. A. Risch, J. E. Eyfjord, J. L. Hopper, N. Loman, H. Olsson, O. Johannsson, A. Borg, B. Pasini, P. Radice, S. Manoukian, D. M. Eccles, N. Tang, E. Olah, H. Anton-Culver, E. Warner, J. Lubinski, J. Gronwald, B. Gorski, H. Tulinius, S. Thorlacius, H. Eerola, H. Nevanlinna, K. Syrjakoski, O. P. Kallioniemi, D. Thompson, C. Evans, J. Peto, F. Lalloo, D. G. Evans, and D. F. Easton. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. Am. J. Hum. Genet. 72(5):1117–1130, 2003. https://doi.org/10.1086/375033.

Anyanwu, S. N. C. Temporal trends in breast cancer presentation in the third world. J Exp Clin Canc Res. 2008. https://doi.org/10.1186/1756-9966-27-17.

Barkan, D., J. E. Green, and A. F. Chambers. Extracellular matrix: a gatekeeper in the transition from dormancy to metastatic growth. Eur. J. Cancer. 46(7):1181–1188, 2010. https://doi.org/10.1016/j.ejca.2010.02.027.

Chandler, M. R., E. P. Bilgili, and N. D. Merner. A review of whole-exome sequencing efforts toward hereditary breast cancer susceptibility gene discovery. Hum Mutat. 37(9):835–846, 2016. https://doi.org/10.1002/humu.23017.

Churpek, J. E., T. Walsh, Y. Zheng, Z. Moton, A. M. Thornton, M. K. Lee, S. Casadei, A. Watts, B. Neistadt, M. M. Churpek, D. Huo, C. Zvosec, F. Liu, Q. Niu, R. Marquez, J. Zhang, J. Fackenthal, M. C. King, and O. I. Olopade. Inherited predisposition to breast cancer among African American women. Breast Cancer Res Treat. 149(1):31–39, 2015. https://doi.org/10.1007/s10549-014-3195-0.

Colditz, G. A., W. C. Willett, D. J. Hunter, M. J. Stampfer, J. E. Manson, C. H. Hennekens, B. A. Rosner, F. E. Speizer. Family History, Age, and Risk of Breast Cancer. JAMA 270(3):338–343, 1993.

Courtney, K. D., R. B. Corcoran, and J. A. Engelman. The PI3K pathway as drug target in human cancer. J. Clin. Oncol. 28(6):1075–1083, 2010. https://doi.org/10.1200/Jco.2009.25.3641.

Cukierman, E., and D. E. Bassi. Physico-mechanical aspects of extracellular matrix influences on tumorigenic behaviors. Semin. Cancer Biol. 20(3):139–145, 2010. https://doi.org/10.1016/j.semcancer.2010.04.004.

Dumont, N., B. Liu, R. A. Defilippis, H. Chang, J. T. Rabban, A. N. Karnezis, J. A. Tjoe, J. Marx, B. Parvin, and T. D. Tlsty. Breast fibroblasts modulate early dissemination, tumorigenesis, and metastasis through alteration of extracellular matrix characteristics. Neoplasia. 15(3):249–262, 2013.

Eber-Schulz, P., W. Tariku, C. Reibold, A. Addissie, C. Wickenhauser, C. Fathke, S. Hauptmann, A. Jemal, C. Thomssen, and E. J. Kantelhardt. Survival of breast cancer patients in rural Ethiopia. Breast Cancer Res. Treat. 170(1):111–118, 2018. https://doi.org/10.1007/s10549-018-4724-z.

Fumagalli, D., T. R. Wilson, R. Salgado, X. Lu, J. Yu, C. O’Brien, K. Walter, L. Y. Huw, C. Criscitiello, I. Laios, V. Jose, D. N. Brown, F. Rothe, M. Maetens, D. Zardavas, P. Savas, D. Larsimont, M. J. Piccart-Gebhart, S. Michiels, M. R. Lackner, C. Sotiriou, and S. Loi. Somatic mutation, copy number and transcriptomic profiles of primary and matched metastatic estrogen receptor-positive breast cancers. Ann. Oncol. 27(10):1860–1866, 2016. https://doi.org/10.1093/annonc/mdw286.

Gagnoux-Palacios, L., M. Allegra, F. Spirito, O. Pommeret, C. Romero, J. P. Ortonne, and G. Meneguzzi. The short arm of the laminin gamma2 chain plays a pivotal role in the incorporation of laminin 5 into the extracellular matrix and in cell adhesion. J. Cell Biol. 153(4):835–850, 2001. https://doi.org/10.1083/jcb.153.4.835.

Ghajar, C. M., and M. J. Bissell. Extracellular matrix control of mammary gland morphogenesis and tumorigenesis: insights from imaging. Histochem. Cell Biol. 130(6):1105–1118, 2008. https://doi.org/10.1007/s00418-008-0537-1.

Gracia-Aznarez, F. J., V. Fernandez, G. Pita, P. Peterlongo, O. Dominguez, M. de la Hoya, M. Duran, A. Osorio, L. Moreno, A. Gonzalez-Neira, J. M. Rosa-Rosa, O. Sinilnikova, S. Mazoyer, J. Hopper, C. Lazaro, M. Southey, F. Odefrey, S. Manoukian, I. Catucci, T. Caldes, H. T. Lynch, F. S. Hilbers, C. J. van Asperen, H. F. Vasen, D. Goldgar, P. Radice, P. Devilee, and J. Benitez. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS ONE 8(2):2013. https://doi.org/10.1371/journal.pone.0055681.

Hadgu, E., D. Seifu, W. Tigneh, Y. Bokretsion, A. Bekele, M. Abebe, T. Sollie, S. D. Merajver, C. Karlsson, and M. G. Karlsson. Breast cancer in Ethiopia: evidence for geographic difference in the distribution of molecular subtypes in Africa. BMC Womens Health. 18(1):40, 2018. https://doi.org/10.1186/s12905-018-0531-2.

Han, S. A., S. W. Kim, E. Kang, S. K. Park, S. H. Ahn, M. H. Lee, S. J. Nam, W. Han, Y. T. Bae, H. A. Kim, Y. U. Cho, M. C. Chang, N. S. Paik, K. T. Hwang, S. J. Kim, D. Y. Noh, D. H. Choi, W. C. Noh, L. S. Kim, K. S. Kim, Y. J. Suh, J. E. Lee, Y. Jung, B. I. Moon, J. H. Yang, B. H. Son, C. K. Yom, S. Y. Kim, H. Lee, S. H. Jung, K. R. Group, the Korean Breast Cancer S. The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study. Fam. Cancer. 12(1):75–81, 2013. https://doi.org/10.1007/s10689-012-9578-7

Indra, I., and K. A. Beningo. An in vitro correlation of metastatic capacity, substrate rigidity, and ECM composition. J. Cell Biochem. 112(11):3151–3158, 2011. https://doi.org/10.1002/jcb.23241.

Jemal, A., and S. A. Fedewa. Is the prevalence of ER-negative breast cancer in the US higher among Africa-born than US-born black women? Breast Cancer Res. Treat. 135(3):867–873, 2012. https://doi.org/10.1007/s10549-012-2214-2.

Jiagge, E., A. S. Jibril, D. Chitale, J. M. Bensenhaver, B. Awuah, M. Hoenerhoff, E. Adjei, M. Bekele, E. Abebe, S. D. Nathanson, K. Gyan, B. Salem, J. Oppong, F. Aitpillah, I. Kyei, E. O. Bonsu, E. Proctor, S. D. Merajver, M. Wicha, A. Stark, and L. A. Newman. Comparative analysis of breast cancer phenotypes in African American, White American, and West versus East African patients: correlation between African ancestry and triple-negative breast cancer. Ann. Surg. Oncol. 23(12):3843–3849, 2016. https://doi.org/10.1245/s10434-016-5420-z.

Jinka, R., R. Kapoor, P. G. Sistla, T. A. Raj, and G. Pande. Alterations in cell-extracellular matrix interactions during progression of cancers. Int. J. Cell. Biol. 2012:2012. https://doi.org/10.1155/2012/219196.

Kantelhardt, E. J., C. Hanson, U. S. Albert, and J. Wacker. Breast cancer in countries of limited resources. Breast Care (Basel). 3(1):10–16, 2008. https://doi.org/10.1159/000114409.

Kantelhardt, E. J., A. Mathewos, A. Aynalem, T. Wondemagegnehu, A. Jemal, M. Vetter, E. Knauf, A. Reeler, S. Bogale, C. Thomssen, A. Stang, T. Gemechu, P. Trocchi, and B. Yonas. The prevalence of estrogen receptor-negative breast cancer in Ethiopia. BMC Cancer. 14:895, 2014. https://doi.org/10.1186/1471-2407-14-895.

Kantelhardt, E. J., P. Zerche, A. Mathewos, P. Trocchi, A. Addissie, A. Aynalem, T. Wondemagegnehu, T. Ersumo, A. Reeler, B. Yonas, M. Tinsae, T. Gemechu, A. Jemal, C. Thomssen, A. Stang, and S. Bogale. Breast cancer survival in Ethiopia: a cohort study of 1,070 women. Int. J. Cancer 135(3):702–709, 2014. https://doi.org/10.1002/ijc.28691.

Kuleshov, M. V., M. R. Jones, A. D. Rouillard, N. F. Fernandez, Q. N. Duan, Z. C. Wang, S. Koplev, S. L. Jenkins, K. M. Jagodnik, A. Lachmann, M. G. McDermott, C. D. Monteiro, G. W. Gundersen, and A. Ma’ayan. Enrichr: a comprehensive gene set enrichment analysis web server 2016 update. Nucleic Acids Res. 44(W1):W90–W97, 2016. https://doi.org/10.1093/nar/gkw377.

Langmead, B., C. Trapnell, M. Pop, and S. L. Salzberg. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol. 2009. https://doi.org/10.1186/gb-2009-10-3-r25.

Lesseur, C., B. Diergaarde, A. F. Olshan, V. Wunsch-Filho, A. R. Ness, G. Liu, M. Lacko, J. Eluf-Neto, S. Franceschi, P. Lagiou, G. J. Macfarlane, L. Richiardi, S. Boccia, J. Polesel, K. Kjaerheim, D. Zaridze, M. Johansson, A. M. Menezes, M. P. Curado, M. Robinson, W. Ahrens, C. Canova, A. Znaor, X. Castellsague, D. I. Conway, I. Holcatova, D. Mates, M. Vilensky, C. M. Healy, N. Szeszenia-Dabrowska, E. Fabianova, J. Lissowska, J. R. Grandis, M. C. Weissler, E. H. Tajara, F. D. Nunes, M. B. de Carvalho, S. Thomas, R. J. Hung, W. H. Peters, R. Herrero, G. Cadoni, H. B. Bueno-de-Mesquita, A. Steffen, A. Agudo, O. Shangina, X. Xiao, V. Gaborieau, A. Chabrier, D. Anantharaman, P. Boffetta, C. I. Amos, J. D. McKay, and P. Brennan. Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. Nat. Genet. 48(12):1544–1550, 2016. https://doi.org/10.1038/ng.3685.

Li, H., B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin, and G. P. D. Proc. The sequence alignment/map format and SAMtools. Bioinformatics. 25(16):2078–2079, 2009. https://doi.org/10.1093/bioinformatics/btp352.

Lindor, N. M., D. E. Goldgar, S. V. Tavtigian, S. E. Plon, and F. J. Couch. BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist. 18(5):518–524, 2013. https://doi.org/10.1634/theoncologist.2012-0452.

Lu, P., V. M. Weaver, and Z. Werb. The extracellular matrix: a dynamic niche in cancer progression. J. Cell. Biol. 196(4):395–406, 2012. https://doi.org/10.1083/jcb.201102147.

Lund, M. J., K. F. Trivers, P. L. Porter, R. J. Coates, B. Leyland-Jones, O. W. Brawley, E. W. Flagg, R. M. O’Regan, S. G. Gabram, and J. W. Eley. Race and triple negative threats to breast cancer survival: a population-based study in Atlanta, GA. Breast Cancer Res Treat. 113(2):357–370, 2009. https://doi.org/10.1007/s10549-008-9926-3.

Maatta, K., T. Rantapero, A. Lindstrom, M. Nykter, M. Kankuri-Tammilehto, S. L. Laasanen, and J. Schleutker. Whole-exome sequencing of Finnish hereditary breast cancer families. Eur. J. Hum. Genet. 25(1):85–93, 2016. https://doi.org/10.1038/ejhg.2016.141.

Mahmoodi, F., and H. Akrami. PlGF knockdown decreases tumorigenicity and stemness properties of spheroid body cells derived from gastric cancer cells. J Cell Biochem. 118(4):851–859, 2017. https://doi.org/10.1002/jcb.25762.

Memirie, S. T., M. K. Habtemariam, M. Asefa, B. T. Deressa, G. Abayneh, B. Tsegaye, M. W. Abraha, G. Ababi, A. Jemal, T. R. Rebbeck, and S. Verguet. Estimates of cancer incidence in Ethiopia in 2015 using population-based registry data. J. Glob. Oncol. 4:1–11, 2018. https://doi.org/10.1200/JGO.17.00175.

Moggs, J. G., T. C. Murphy, F. L. Lim, D. J. Moore, R. Stuckey, K. Antrobus, I. Kimber, and G. Orphanides. Anti-proliferative effect of estrogen in breast cancer cells that re-express ERalpha is mediated by aberrant regulation of cell cycle genes. J. Mol. Endocrinol. 34(2):535–551, 2005. https://doi.org/10.1677/jme.1.01677.

Naba, A., K. R. Clauser, J. M. Lamar, S. A. Carr, R. O. Hynes. Extracellular matrix signatures of human mammary carcinoma identify novel metastasis promoters. eLife. 3:e01308, 2014. https://doi.org/10.7554/elife.01308.

Newell, L. F., S. G. Holtan, J. E. Yates, L. Pereira, J. W. Tyner, I. Burd, G. C. Bagby. PlGF enhances TLR-dependent inflammatory responses in human mononuclear phagocytes. Am. J. Reproduc. Immunol. 78(4), 2017. https://doi.org/10.1111/aji.12709.

Oluwagbemiga, L. A., A. Oluwole, A. A. Kayode. Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa?—A systematic review. SpringerPlus. 1(83), 2012.

Oudin, M. J., O. Jonas, T. Kosciuk, L. C. Broye, B. C. Guido, J. Wyckoff, D. Riquelme, J. M. Lamar, S. B. Asokan, C. Whittaker, D. Ma, R. Langer, M. J. Cima, K. B. Wisinski, R. O. Hynes, D. A. Lauffenburger, P. J. Keely, J. E. Bear, and F. B. Gertler. Tumor cell-driven extracellular matrix remodeling drives haptotaxis during metastatic progression. Cancer Discov. 6(5):516–531, 2016. https://doi.org/10.1158/2159-8290.CD-15-1183.

Pharoah, P. D. P., N. E. Day, S. Duffy, D. F. Easton, B. A. J. Ponder. Family history and the risk of breast cancer: a systematic review and meta-analysis. Int. J. Cancer. 1997.

Pickup, M. W., J. K. Mouw, and V. M. Weaver. The extracellular matrix modulates the hallmarks of cancer. EMBO Rep. 15:1243–1253, 2014. https://doi.org/10.15252/embr.201439246.

Pickup, M. W., J. K. Mouw, and V. M. Weaver. The extracellular matrix modulates the hallmarks of cancer. EMBO Rep. 15(12):1243–1253, 2014. https://doi.org/10.15252/embr.201439246.

Robinson, D. R., Y. M. Wu, P. Vats, F. Su, R. J. Lonigro, X. Cao, S. Kalyana-Sundaram, R. Wang, Y. Ning, L. Hodges, A. Gursky, J. Siddiqui, S. A. Tomlins, S. Roychowdhury, K. J. Pienta, S. Y. Kim, J. S. Roberts, J. M. Rae, C. H. Van Poznak, D. F. Hayes, R. Chugh, L. P. Kunju, M. Talpaz, A. F. Schott, and A. M. Chinnaiyan. Activating ESR1 mutations in hormone-resistant metastatic breast cancer. Nat. Genet. 45(12):1446–1451, 2013. https://doi.org/10.1038/ng.2823.

Shenkutie, B., Y. Mekonnen, D. Seifu, E. Abebe, W. Ergete, A. Damie, W. Lako Labisso. Biological and clinicopathological characteristics of breast cancer at Tikur Anbessa specialized hospital, Addis Ababa, Ethiopia. J. Cancer Sci. Ther. 9(12):755–60, 2017.

Shiovitz, S., and L. A. Korde. Genetics of breast cancer: a topic in evolution. Ann. Oncol. 26(7):1291–1299, 2015. https://doi.org/10.1093/annonc/mdv022.

Subramanian, A., P. Tamayo, V. K. Mootha, S. Mukherjee, B. L. Ebert, M. A. Gillette, A. Paulovich, S. L. Pomeroy, T. R. Golub, E. S. Lander, and J. P. Mesirov. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl. Acad. Sci. USA 102(43):15545–15550, 2005. https://doi.org/10.1073/pnas.0506580102.

Thompson, E. R., M. A. Doyle, G. L. Ryland, S. M. Rowley, D. Y. Choong, R. W. Tothill, H. Thorne, kConFab, D. R. Barnes, J. Li, J. Ellul, G. K. Philip, Y. C. Antill, P. A. James, A. H. Trainer, G. Mitchell, I. G. Campbell. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet. 8(9):e1002894, 2012. https://doi.org/10.1371/journal.pgen.1002894.

Timotewos, G., A. Solomon, A. Mathewos, A. Addissie, S. Bogale, T. Wondemagegnehu, A. Aynalem, B. Ayalnesh, H. Dagnechew, W. Bireda, E. S. Kroeber, R. Mikolajczyk, F. Bray, A. Jemal, and E. J. Kantelhardt. First data from a population based cancer registry in Ethiopia. Cancer Epidemiol. 53:93–98, 2018. https://doi.org/10.1016/j.canep.2018.01.008.

Tsuji, T., Y. Kawada, M. Kai-Murozono, S. Komatsu, S. A. Han, K. Takeuchi, H. Mizushima, K. Miyazaki, and T. Irimura. Regulation of melanoma cell migration and invasion by laminin-5 and alpha3beta1 integrin (VLA-3). Clin. Exp. Metastasis. 19(2):127–134, 2002. https://doi.org/10.1023/a:1014573204062.

Vanderpuye, V., S. Grover, N. Hammad, P. Pooja, H. Simonds, F. Olopade, D. C. Stefan. An update on the management of breast cancer in Africa. Infect Agents Cancer. 2017. https://doi.org/10.1186/s13027-017-0124-y.

Weiner, C. M., A. Mathewos, A. Addissie, W. Ayele, A. Aynalem, T. Wondemagegnehu, A. Wienke, A. Jemal, P. Zerche, C. Thomssen, A. Seidler, and E. J. Kantelhardt. Characteristics and follow-up of metastatic breast cancer in Ethiopia: a cohort study of 573 women. Breast. 42:23–30, 2018. https://doi.org/10.1016/j.breast.2018.08.095.

Wolf, K., and P. Friedl. Mapping proteolytic cancer cell-extracellular matrix interfaces. Clin Exp Metastasis. 26(4):289–298, 2009. https://doi.org/10.1007/s10585-008-9190-2.

Yaghjyan, L., G. A. Colditz, L. C. Collins, S. J. Schnitt, B. Rosner, C. Vachon, and R. M. Tamimi. Mammographic breast density and subsequent risk of breast cancer in postmenopausal women according to tumor characteristics. J. Natl. Cancer Inst. 103(15):1179–1189, 2011. https://doi.org/10.1093/jnci/djr225.

Yako, Y. Y., M. Brand, M. Smith, and D. Kruger. Inflammatory cytokines and angiogenic factors as potential biomarkers in South African pancreatic ductal adenocarcinoma patients: a preliminary report. Pancreatology. 17(3):438–444, 2017. https://doi.org/10.1016/j.pan.2017.03.003.

Zahir, N., J. N. Lakins, A. Russell, W. Ming, C. Chatterjee, G. I. Rozenberg, M. P. Marinkovich, and V. M. Weaver. Autocrine laminin-5 ligates alpha6beta4 integrin and activates RAC and NFkappaB to mediate anchorage-independent survival of mammary tumors. J. Cell Biol. 163(6):1397–1407, 2003. https://doi.org/10.1083/jcb.200302023.