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1. Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

Author: Randall, Leslie M, Randall, Leslie M, Pothuri, Bhavana, Swisher, Elizabeth M, Diaz, John P, Buchanan, Adam, Witkop, Catherine T, Bethan Powell, C, Smith, Ellen Blair, Robson, Mark E, Boyd, Jeff, Coleman, Robert L, Lu, Karen, Randall, Leslie M, Randall, Leslie M, Pothuri, Bhavana, Swisher, Elizabeth M, Diaz, John P, Buchanan, Adam, Witkop, Catherine T, Bethan Powell, C, Smith, Ellen Blair, Robson, Mark E, Boyd, Jeff, Coleman, Robert L, and Lu, Karen
Abstract: ObjectiveTo assess current practice, advise minimum standards, and identify educational gaps relevant to genetic screening, counseling, and testing of women affected by gynecologic cancers.MethodsThe Society of Gynecologic Oncology (SGO) organized a multidisciplinary summit that included representatives from the American College of Obstetricians and Gynecologists (ACOG), the American Society Clinical Oncology (ASCO), the National Society of Genetic Counselors (NSGC), and patient advocacy groups, BrightPink and Facing our Risk of Cancer Empowered (FORCE). Three subject areas were discussed: care delivery models for genetic testing, barriers to genetic testing, and educational opportunities for providers of genetic testing.ResultsThe group endorsed current SGO, National Comprehensive Cancer Network (NCCN), and NSGC genetic testing guidelines for women affected with ovarian, tubal, peritoneal cancers, or DNA mismatch repair deficient endometrial cancer. Three main areas of unmet need were identified: timely and universal genetic testing for women with ovarian, fallopian tube, and peritoneal cancers; education regarding minimum standards for genetic counseling and testing; and barriers to implementation of testing of both affected individuals as well as cascade testing of family members. Consensus building among all stakeholders resulted in an action plan to address gaps in education of gynecologic oncology providers and delivery of cancer genetics care.
Published: 2017

2. Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

Author: Randall, Leslie M, Randall, Leslie M, Pothuri, Bhavana, Swisher, Elizabeth M, Diaz, John P, Buchanan, Adam, Witkop, Catherine T, Bethan Powell, C, Smith, Ellen Blair, Robson, Mark E, Boyd, Jeff, Coleman, Robert L, Lu, Karen, Randall, Leslie M, Randall, Leslie M, Pothuri, Bhavana, Swisher, Elizabeth M, Diaz, John P, Buchanan, Adam, Witkop, Catherine T, Bethan Powell, C, Smith, Ellen Blair, Robson, Mark E, Boyd, Jeff, Coleman, Robert L, and Lu, Karen
Abstract: ObjectiveTo assess current practice, advise minimum standards, and identify educational gaps relevant to genetic screening, counseling, and testing of women affected by gynecologic cancers.MethodsThe Society of Gynecologic Oncology (SGO) organized a multidisciplinary summit that included representatives from the American College of Obstetricians and Gynecologists (ACOG), the American Society Clinical Oncology (ASCO), the National Society of Genetic Counselors (NSGC), and patient advocacy groups, BrightPink and Facing our Risk of Cancer Empowered (FORCE). Three subject areas were discussed: care delivery models for genetic testing, barriers to genetic testing, and educational opportunities for providers of genetic testing.ResultsThe group endorsed current SGO, National Comprehensive Cancer Network (NCCN), and NSGC genetic testing guidelines for women affected with ovarian, tubal, peritoneal cancers, or DNA mismatch repair deficient endometrial cancer. Three main areas of unmet need were identified: timely and universal genetic testing for women with ovarian, fallopian tube, and peritoneal cancers; education regarding minimum standards for genetic counseling and testing; and barriers to implementation of testing of both affected individuals as well as cascade testing of family members. Consensus building among all stakeholders resulted in an action plan to address gaps in education of gynecologic oncology providers and delivery of cancer genetics care.
Published: 2017

3. Comprehensive molecular profiling of lung adenocarcinoma

Author: Collisson, Eric A., Campbell, Joshua D., Brooks, Angela N., Berger, Alice H., Lee, William, Chmielecki, Juliann, Beer, David G., Cope, Leslie, Creighton, Chad J., Danilova, Ludmila, Ding, Li, Getz, Gad, Hammerman, Peter S., Hayes, D. Neil, Hernandez, Bryan, Herman, James G., Heymach, John V., Jurisica, Igor, Kucherlapati, Raju, Kwiatkowski, David, Ladanyi, Marc, Robertson, Gordon, Schultz, Nikolaus, Shen, Ronglai, Sinha, Rileen, Sougnez, Carrie, Tsao, Ming-Sound, Travis, William D., Weinstein, John N., Wigle, Dennis A., Wilkerson, Matthew D., Chu, Andy, Cherniack, Andrew D., Hadjipanayis, Angela, Rosenberg, Mara, Weisenberger, Daniel J., Laird, Peter W., Radenbaugh, Amie, Ma, Singer, Stuart, Joshua M., Byers, Lauren Averett, Baylin, Stephen B., Govindan, Ramaswamy, Meyerson, Matthew, Gabriel, Stacey B., Cibulskis, Kristian, Kim, Jaegil, Stewart, Chip, Lichtenstein, Lee, Lander, Eric S., Lawrence, Michael S., Kandoth, Cyriac, Fulton, Robert, Fulton, Lucinda L., McLellan, Michael D., Wilson, Richard K., Ye, Kai, Fronick, Catrina C., Maher, Christopher A., Miller, Christopher A., Wendl, Michael C., Cabanski, Christopher, Mardis, Elaine, Wheeler, David, Balasundaram, Miruna, Butterfield, Yaron S. N., Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Varhol, Richard, Robertson, A. Gordon, Wye, Natasja, Thiessen, Nina, Holt, Robert A., Jones, Steven J. M., Marra, Marco A., Imielinski, Marcin, Onofrio, Robert C., Hodis, Eran, Zack, Travis, Helman, Elena, Pedamallu, Chandra Sekhar, Mesirov, Jill, Saksena, Gordon, Schumacher, Steven E., Carter, Scott L., Garraway, Levi, Beroukhim, Rameen, Lee, Semin, Mahadeshwar, Harshad S., Pantazi, Angeliki, Protopopov, Alexei, Ren, Xiaojia, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Yang, Lixing, Zhang, Jianhua, Chen, Peng-Chieh, Parfenov, Michael, Xu, Andrew Wei, Santoso, Netty, Chin, Lynda, Park, Peter J., Hoadley, Katherine A., Auman, J. Todd, Meng, Shaowu, Shi, Yan, Buda, Elizabeth, Waring, Scot, Veluvolu, Umadevi, Tan, Donghui, Mieczkowski, Piotr A., Jones, Corbin D., Simons, Janae V., Soloway, Matthew G., Bodenheimer, Tom, Jefferys, Stuart R., Roach, Jeffrey, Hoyle, Alan P., Wu, Junyuan, Balu, Saianand, Singh, Darshan, Prins, Jan F., Marron, J. S., Parker, Joel S., Perou, Charles M., Liu, Jinze, Maglinte, Dennis T., Lai, Philip H., Bootwalla, Moiz S., Van Den Berg, David J., Triche, Timothy, Jr., Cho, Juok, DiCara, Daniel, Heiman, David, Lin, Pei, Mallard, William, Voet, Douglas, Zhang, Hailei, Zou, Lihua, Noble, Michael S., Gehlenborg, Nils, Thorvaldsdottir, Helga, Nazaire, Marc-Danie, Robinson, Jim, Aksoy, B. Arman, Ciriello, Giovanni, Taylor, Barry S., Dresdner, Gideon, Gao, Jianjiong, Gross, Benjamin, Seshan, Venkatraman E., Reva, Boris, Sumer, S. Onur, Weinhold, Nils, Sander, Chris, Zhu, Jingchun, Benz, Christopher C., Yau, Christina, Haussler, David, Spellman, Paul T., Kimes, Patrick K., Broom, Bradley M., Wang, Jing, Lu, Yiling, Diao, Lixia, Liu, Wenbin, Amos, Christopher I., Akbani, Rehan, Mills, Gordon B., Curley, Erin, Paulauskis, Joseph, Lau, Kevin, Morris, Scott, Shelton, Troy, Mallery, David, Gardner, Johanna, Penny, Robert, Saller, Charles, Tarvin, Katherine, Richards, William G., Cerfolio, Robert, Bryant, Ayesha, Raymond, Daniel P., Pennell, Nathan A., Farver, Carol, Czerwinski, Christine, Huelsenbeck-Dill, Lori, Iacocca, Mary, Petrelli, Nicholas, Rabeno, Brenda, Brown, Jennifer, Bauer, Thomas, Dolzhanskiy, Oleg, Potapova, Olga, Rotin, Daniil, Voronina, Olga, Nemirovich-Danchenko, Elena, Fedosenko, Konstantin V., Gal, Anthony, Behera, Madhusmita, Ramalingam, Suresh S., Sica, Gabriel, Flieder, Douglas, Boyd, Jeff, Weaver, JoEllen, Kohl, Bernard, Sandusky, George, Juhl, Hartmut, Duhig, Edwina, Illei, Peter, Gabrielson, Edward, Shin, James, Lee, Beverly, Rogers, Kristen, Trusty, Dante, Brock, Malcolm V., Williamson, Christina, Burks, Eric, Rieger-Christ, Kimberly, Holway, Antonia, Sullivan, Travis, Asiedu, Michael K., Kosari, Farhad, Rekhtman, Natasha, Zakowski, Maureen, Rusch, Valerie W., Zippile, Paul, Suh, James, Pass, Harvey, Goparaju, Chandra, Owusu-Sarpong, Yvonne, Bartlett, John M. S., Kodeeswaran, Sugy, Parfitt, Jeremy, Sekhon, Harmanjatinder, Albert, Monique, Eckman, John, Myers, Jerome B., Cheney, Richard, Morrison, Carl, Gaudioso, Carmelo, Borgia, Jeffrey A., Bonomi, Philip, Pool, Mark, Liptay, Michael J., Moiseenko, Fedor, Zaytseva, Irina, Dienemann, Hendrik, Meister, Michael, Schnabel, Philipp A., Muley, Thomas R., Peifer, Martin, Gomez-Fernandez, Carmen, Herbert, Lynn, Egea, Sophie, Huang, Mei, Thorne, Leigh B., Boice, Lori, Salazar, Ashley Hill, Funkhouser, William K., Rathmell, W. Kimryn, Dhir, Rajiv, Yousem, Samuel A., Dacic, Sanja, Schneider, Frank, Siegfried, Jill M., Hajek, Richard, Watson, Mark A., McDonald, Sandra, Meyers, Bryan, Clarke, Belinda, Yang, Ian A., Fong, Kwun M., Hunter, Lindy, Windsor, Morgan, Bowman, Rayleen V., Peters, Solange, Letovanec, Igor, Khan, Khurram Z., Jensen, Mark A., Snyder, Eric E., Srinivasan, Deepak, Kahn, Ari B., Baboud, Julien, Pot, David A., Shaw, Kenna R. Mills, Sheth, Margi, Davidsen, Tanja, Demchok, John A., Yang, Liming, Wang, Zhining, Tarnuzzer, Roy, Zenklusen, Jean Claude, Ozenberger, Bradley A., Sofia, Heidi J., Collisson, Eric A., Campbell, Joshua D., Brooks, Angela N., Berger, Alice H., Lee, William, Chmielecki, Juliann, Beer, David G., Cope, Leslie, Creighton, Chad J., Danilova, Ludmila, Ding, Li, Getz, Gad, Hammerman, Peter S., Hayes, D. Neil, Hernandez, Bryan, Herman, James G., Heymach, John V., Jurisica, Igor, Kucherlapati, Raju, Kwiatkowski, David, Ladanyi, Marc, Robertson, Gordon, Schultz, Nikolaus, Shen, Ronglai, Sinha, Rileen, Sougnez, Carrie, Tsao, Ming-Sound, Travis, William D., Weinstein, John N., Wigle, Dennis A., Wilkerson, Matthew D., Chu, Andy, Cherniack, Andrew D., Hadjipanayis, Angela, Rosenberg, Mara, Weisenberger, Daniel J., Laird, Peter W., Radenbaugh, Amie, Ma, Singer, Stuart, Joshua M., Byers, Lauren Averett, Baylin, Stephen B., Govindan, Ramaswamy, Meyerson, Matthew, Gabriel, Stacey B., Cibulskis, Kristian, Kim, Jaegil, Stewart, Chip, Lichtenstein, Lee, Lander, Eric S., Lawrence, Michael S., Kandoth, Cyriac, Fulton, Robert, Fulton, Lucinda L., McLellan, Michael D., Wilson, Richard K., Ye, Kai, Fronick, Catrina C., Maher, Christopher A., Miller, Christopher A., Wendl, Michael C., Cabanski, Christopher, Mardis, Elaine, Wheeler, David, Balasundaram, Miruna, Butterfield, Yaron S. N., Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Varhol, Richard, Robertson, A. Gordon, Wye, Natasja, Thiessen, Nina, Holt, Robert A., Jones, Steven J. M., Marra, Marco A., Imielinski, Marcin, Onofrio, Robert C., Hodis, Eran, Zack, Travis, Helman, Elena, Pedamallu, Chandra Sekhar, Mesirov, Jill, Saksena, Gordon, Schumacher, Steven E., Carter, Scott L., Garraway, Levi, Beroukhim, Rameen, Lee, Semin, Mahadeshwar, Harshad S., Pantazi, Angeliki, Protopopov, Alexei, Ren, Xiaojia, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Yang, Lixing, Zhang, Jianhua, Chen, Peng-Chieh, Parfenov, Michael, Xu, Andrew Wei, Santoso, Netty, Chin, Lynda, Park, Peter J., Hoadley, Katherine A., Auman, J. Todd, Meng, Shaowu, Shi, Yan, Buda, Elizabeth, Waring, Scot, Veluvolu, Umadevi, Tan, Donghui, Mieczkowski, Piotr A., Jones, Corbin D., Simons, Janae V., Soloway, Matthew G., Bodenheimer, Tom, Jefferys, Stuart R., Roach, Jeffrey, Hoyle, Alan P., Wu, Junyuan, Balu, Saianand, Singh, Darshan, Prins, Jan F., Marron, J. S., Parker, Joel S., Perou, Charles M., Liu, Jinze, Maglinte, Dennis T., Lai, Philip H., Bootwalla, Moiz S., Van Den Berg, David J., Triche, Timothy, Jr., Cho, Juok, DiCara, Daniel, Heiman, David, Lin, Pei, Mallard, William, Voet, Douglas, Zhang, Hailei, Zou, Lihua, Noble, Michael S., Gehlenborg, Nils, Thorvaldsdottir, Helga, Nazaire, Marc-Danie, Robinson, Jim, Aksoy, B. Arman, Ciriello, Giovanni, Taylor, Barry S., Dresdner, Gideon, Gao, Jianjiong, Gross, Benjamin, Seshan, Venkatraman E., Reva, Boris, Sumer, S. Onur, Weinhold, Nils, Sander, Chris, Zhu, Jingchun, Benz, Christopher C., Yau, Christina, Haussler, David, Spellman, Paul T., Kimes, Patrick K., Broom, Bradley M., Wang, Jing, Lu, Yiling, Diao, Lixia, Liu, Wenbin, Amos, Christopher I., Akbani, Rehan, Mills, Gordon B., Curley, Erin, Paulauskis, Joseph, Lau, Kevin, Morris, Scott, Shelton, Troy, Mallery, David, Gardner, Johanna, Penny, Robert, Saller, Charles, Tarvin, Katherine, Richards, William G., Cerfolio, Robert, Bryant, Ayesha, Raymond, Daniel P., Pennell, Nathan A., Farver, Carol, Czerwinski, Christine, Huelsenbeck-Dill, Lori, Iacocca, Mary, Petrelli, Nicholas, Rabeno, Brenda, Brown, Jennifer, Bauer, Thomas, Dolzhanskiy, Oleg, Potapova, Olga, Rotin, Daniil, Voronina, Olga, Nemirovich-Danchenko, Elena, Fedosenko, Konstantin V., Gal, Anthony, Behera, Madhusmita, Ramalingam, Suresh S., Sica, Gabriel, Flieder, Douglas, Boyd, Jeff, Weaver, JoEllen, Kohl, Bernard, Sandusky, George, Juhl, Hartmut, Duhig, Edwina, Illei, Peter, Gabrielson, Edward, Shin, James, Lee, Beverly, Rogers, Kristen, Trusty, Dante, Brock, Malcolm V., Williamson, Christina, Burks, Eric, Rieger-Christ, Kimberly, Holway, Antonia, Sullivan, Travis, Asiedu, Michael K., Kosari, Farhad, Rekhtman, Natasha, Zakowski, Maureen, Rusch, Valerie W., Zippile, Paul, Suh, James, Pass, Harvey, Goparaju, Chandra, Owusu-Sarpong, Yvonne, Bartlett, John M. S., Kodeeswaran, Sugy, Parfitt, Jeremy, Sekhon, Harmanjatinder, Albert, Monique, Eckman, John, Myers, Jerome B., Cheney, Richard, Morrison, Carl, Gaudioso, Carmelo, Borgia, Jeffrey A., Bonomi, Philip, Pool, Mark, Liptay, Michael J., Moiseenko, Fedor, Zaytseva, Irina, Dienemann, Hendrik, Meister, Michael, Schnabel, Philipp A., Muley, Thomas R., Peifer, Martin, Gomez-Fernandez, Carmen, Herbert, Lynn, Egea, Sophie, Huang, Mei, Thorne, Leigh B., Boice, Lori, Salazar, Ashley Hill, Funkhouser, William K., Rathmell, W. Kimryn, Dhir, Rajiv, Yousem, Samuel A., Dacic, Sanja, Schneider, Frank, Siegfried, Jill M., Hajek, Richard, Watson, Mark A., McDonald, Sandra, Meyers, Bryan, Clarke, Belinda, Yang, Ian A., Fong, Kwun M., Hunter, Lindy, Windsor, Morgan, Bowman, Rayleen V., Peters, Solange, Letovanec, Igor, Khan, Khurram Z., Jensen, Mark A., Snyder, Eric E., Srinivasan, Deepak, Kahn, Ari B., Baboud, Julien, Pot, David A., Shaw, Kenna R. Mills, Sheth, Margi, Davidsen, Tanja, Demchok, John A., Yang, Liming, Wang, Zhining, Tarnuzzer, Roy, Zenklusen, Jean Claude, Ozenberger, Bradley A., and Sofia, Heidi J.
Abstract: Adenocarcinoma of the lung is the leading cause of cancer death worldwide. Here we report molecular profiling of 230 resected lung adenocarcinomas using messenger RNA, microRNA and DNA sequencing integrated with copy number, methylation and proteomic analyses. High rates of somatic mutation were seen(mean 8.9 mutations per megabase). Eighteen genes were statistically significantly mutated, including RIT1 activating mutations and newly described loss-of-function MGA mutations which are mutually exclusive with focal MYC amplification. EGFR mutations were more frequent in female patients, whereas mutations in RBM10 were more common in males. Aberrations in NF1, MET, ERBB2 and RIT1 occurred in 13% of cases and were enriched in samples otherwise lacking an activated oncogene, suggesting a driver role for these events in certain tumours. DNA and mRNA sequence from the same tumour highlighted splicing alterations driven by somatic genomic changes, including exon 14 skipping in MET mRNA in 4% of cases. MAPK and PI(3)K pathway activity, when measured at the protein level, was explained by known mutations in only a fraction of cases, suggesting additional, unexplained mechanisms of pathway activation. These data establish a foundation for classification and further investigations of lung adenocarcinoma molecular pathogenesis.
Published: 2014

4. Comprehensive molecular profiling of lung adenocarcinoma

Author: Collisson, Eric A., Campbell, Joshua D., Brooks, Angela N., Berger, Alice H., Lee, William, Chmielecki, Juliann, Beer, David G., Cope, Leslie, Creighton, Chad J., Danilova, Ludmila, Ding, Li, Getz, Gad, Hammerman, Peter S., Hayes, D. Neil, Hernandez, Bryan, Herman, James G., Heymach, John V., Jurisica, Igor, Kucherlapati, Raju, Kwiatkowski, David, Ladanyi, Marc, Robertson, Gordon, Schultz, Nikolaus, Shen, Ronglai, Sinha, Rileen, Sougnez, Carrie, Tsao, Ming-Sound, Travis, William D., Weinstein, John N., Wigle, Dennis A., Wilkerson, Matthew D., Chu, Andy, Cherniack, Andrew D., Hadjipanayis, Angela, Rosenberg, Mara, Weisenberger, Daniel J., Laird, Peter W., Radenbaugh, Amie, Ma, Singer, Stuart, Joshua M., Byers, Lauren Averett, Baylin, Stephen B., Govindan, Ramaswamy, Meyerson, Matthew, Gabriel, Stacey B., Cibulskis, Kristian, Kim, Jaegil, Stewart, Chip, Lichtenstein, Lee, Lander, Eric S., Lawrence, Michael S., Kandoth, Cyriac, Fulton, Robert, Fulton, Lucinda L., McLellan, Michael D., Wilson, Richard K., Ye, Kai, Fronick, Catrina C., Maher, Christopher A., Miller, Christopher A., Wendl, Michael C., Cabanski, Christopher, Mardis, Elaine, Wheeler, David, Balasundaram, Miruna, Butterfield, Yaron S. N., Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Varhol, Richard, Robertson, A. Gordon, Wye, Natasja, Thiessen, Nina, Holt, Robert A., Jones, Steven J. M., Marra, Marco A., Imielinski, Marcin, Onofrio, Robert C., Hodis, Eran, Zack, Travis, Helman, Elena, Pedamallu, Chandra Sekhar, Mesirov, Jill, Saksena, Gordon, Schumacher, Steven E., Carter, Scott L., Garraway, Levi, Beroukhim, Rameen, Lee, Semin, Mahadeshwar, Harshad S., Pantazi, Angeliki, Protopopov, Alexei, Ren, Xiaojia, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Yang, Lixing, Zhang, Jianhua, Chen, Peng-Chieh, Parfenov, Michael, Xu, Andrew Wei, Santoso, Netty, Chin, Lynda, Park, Peter J., Hoadley, Katherine A., Auman, J. Todd, Meng, Shaowu, Shi, Yan, Buda, Elizabeth, Waring, Scot, Veluvolu, Umadevi, Tan, Donghui, Mieczkowski, Piotr A., Jones, Corbin D., Simons, Janae V., Soloway, Matthew G., Bodenheimer, Tom, Jefferys, Stuart R., Roach, Jeffrey, Hoyle, Alan P., Wu, Junyuan, Balu, Saianand, Singh, Darshan, Prins, Jan F., Marron, J. S., Parker, Joel S., Perou, Charles M., Liu, Jinze, Maglinte, Dennis T., Lai, Philip H., Bootwalla, Moiz S., Van Den Berg, David J., Triche, Timothy, Jr., Cho, Juok, DiCara, Daniel, Heiman, David, Lin, Pei, Mallard, William, Voet, Douglas, Zhang, Hailei, Zou, Lihua, Noble, Michael S., Gehlenborg, Nils, Thorvaldsdottir, Helga, Nazaire, Marc-Danie, Robinson, Jim, Aksoy, B. Arman, Ciriello, Giovanni, Taylor, Barry S., Dresdner, Gideon, Gao, Jianjiong, Gross, Benjamin, Seshan, Venkatraman E., Reva, Boris, Sumer, S. Onur, Weinhold, Nils, Sander, Chris, Zhu, Jingchun, Benz, Christopher C., Yau, Christina, Haussler, David, Spellman, Paul T., Kimes, Patrick K., Broom, Bradley M., Wang, Jing, Lu, Yiling, Diao, Lixia, Liu, Wenbin, Amos, Christopher I., Akbani, Rehan, Mills, Gordon B., Curley, Erin, Paulauskis, Joseph, Lau, Kevin, Morris, Scott, Shelton, Troy, Mallery, David, Gardner, Johanna, Penny, Robert, Saller, Charles, Tarvin, Katherine, Richards, William G., Cerfolio, Robert, Bryant, Ayesha, Raymond, Daniel P., Pennell, Nathan A., Farver, Carol, Czerwinski, Christine, Huelsenbeck-Dill, Lori, Iacocca, Mary, Petrelli, Nicholas, Rabeno, Brenda, Brown, Jennifer, Bauer, Thomas, Dolzhanskiy, Oleg, Potapova, Olga, Rotin, Daniil, Voronina, Olga, Nemirovich-Danchenko, Elena, Fedosenko, Konstantin V., Gal, Anthony, Behera, Madhusmita, Ramalingam, Suresh S., Sica, Gabriel, Flieder, Douglas, Boyd, Jeff, Weaver, JoEllen, Kohl, Bernard, Sandusky, George, Juhl, Hartmut, Duhig, Edwina, Illei, Peter, Gabrielson, Edward, Shin, James, Lee, Beverly, Rogers, Kristen, Trusty, Dante, Brock, Malcolm V., Williamson, Christina, Burks, Eric, Rieger-Christ, Kimberly, Holway, Antonia, Sullivan, Travis, Asiedu, Michael K., Kosari, Farhad, Rekhtman, Natasha, Zakowski, Maureen, Rusch, Valerie W., Zippile, Paul, Suh, James, Pass, Harvey, Goparaju, Chandra, Owusu-Sarpong, Yvonne, Bartlett, John M. S., Kodeeswaran, Sugy, Parfitt, Jeremy, Sekhon, Harmanjatinder, Albert, Monique, Eckman, John, Myers, Jerome B., Cheney, Richard, Morrison, Carl, Gaudioso, Carmelo, Borgia, Jeffrey A., Bonomi, Philip, Pool, Mark, Liptay, Michael J., Moiseenko, Fedor, Zaytseva, Irina, Dienemann, Hendrik, Meister, Michael, Schnabel, Philipp A., Muley, Thomas R., Peifer, Martin, Gomez-Fernandez, Carmen, Herbert, Lynn, Egea, Sophie, Huang, Mei, Thorne, Leigh B., Boice, Lori, Salazar, Ashley Hill, Funkhouser, William K., Rathmell, W. Kimryn, Dhir, Rajiv, Yousem, Samuel A., Dacic, Sanja, Schneider, Frank, Siegfried, Jill M., Hajek, Richard, Watson, Mark A., McDonald, Sandra, Meyers, Bryan, Clarke, Belinda, Yang, Ian A., Fong, Kwun M., Hunter, Lindy, Windsor, Morgan, Bowman, Rayleen V., Peters, Solange, Letovanec, Igor, Khan, Khurram Z., Jensen, Mark A., Snyder, Eric E., Srinivasan, Deepak, Kahn, Ari B., Baboud, Julien, Pot, David A., Shaw, Kenna R. Mills, Sheth, Margi, Davidsen, Tanja, Demchok, John A., Yang, Liming, Wang, Zhining, Tarnuzzer, Roy, Zenklusen, Jean Claude, Ozenberger, Bradley A., Sofia, Heidi J., Collisson, Eric A., Campbell, Joshua D., Brooks, Angela N., Berger, Alice H., Lee, William, Chmielecki, Juliann, Beer, David G., Cope, Leslie, Creighton, Chad J., Danilova, Ludmila, Ding, Li, Getz, Gad, Hammerman, Peter S., Hayes, D. Neil, Hernandez, Bryan, Herman, James G., Heymach, John V., Jurisica, Igor, Kucherlapati, Raju, Kwiatkowski, David, Ladanyi, Marc, Robertson, Gordon, Schultz, Nikolaus, Shen, Ronglai, Sinha, Rileen, Sougnez, Carrie, Tsao, Ming-Sound, Travis, William D., Weinstein, John N., Wigle, Dennis A., Wilkerson, Matthew D., Chu, Andy, Cherniack, Andrew D., Hadjipanayis, Angela, Rosenberg, Mara, Weisenberger, Daniel J., Laird, Peter W., Radenbaugh, Amie, Ma, Singer, Stuart, Joshua M., Byers, Lauren Averett, Baylin, Stephen B., Govindan, Ramaswamy, Meyerson, Matthew, Gabriel, Stacey B., Cibulskis, Kristian, Kim, Jaegil, Stewart, Chip, Lichtenstein, Lee, Lander, Eric S., Lawrence, Michael S., Kandoth, Cyriac, Fulton, Robert, Fulton, Lucinda L., McLellan, Michael D., Wilson, Richard K., Ye, Kai, Fronick, Catrina C., Maher, Christopher A., Miller, Christopher A., Wendl, Michael C., Cabanski, Christopher, Mardis, Elaine, Wheeler, David, Balasundaram, Miruna, Butterfield, Yaron S. N., Carlsen, Rebecca, Chuah, Eric, Dhalla, Noreen, Guin, Ranabir, Hirst, Carrie, Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Andrew J., Schein, Jacqueline E., Sipahimalani, Payal, Tam, Angela, Varhol, Richard, Robertson, A. Gordon, Wye, Natasja, Thiessen, Nina, Holt, Robert A., Jones, Steven J. M., Marra, Marco A., Imielinski, Marcin, Onofrio, Robert C., Hodis, Eran, Zack, Travis, Helman, Elena, Pedamallu, Chandra Sekhar, Mesirov, Jill, Saksena, Gordon, Schumacher, Steven E., Carter, Scott L., Garraway, Levi, Beroukhim, Rameen, Lee, Semin, Mahadeshwar, Harshad S., Pantazi, Angeliki, Protopopov, Alexei, Ren, Xiaojia, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Yang, Lixing, Zhang, Jianhua, Chen, Peng-Chieh, Parfenov, Michael, Xu, Andrew Wei, Santoso, Netty, Chin, Lynda, Park, Peter J., Hoadley, Katherine A., Auman, J. Todd, Meng, Shaowu, Shi, Yan, Buda, Elizabeth, Waring, Scot, Veluvolu, Umadevi, Tan, Donghui, Mieczkowski, Piotr A., Jones, Corbin D., Simons, Janae V., Soloway, Matthew G., Bodenheimer, Tom, Jefferys, Stuart R., Roach, Jeffrey, Hoyle, Alan P., Wu, Junyuan, Balu, Saianand, Singh, Darshan, Prins, Jan F., Marron, J. S., Parker, Joel S., Perou, Charles M., Liu, Jinze, Maglinte, Dennis T., Lai, Philip H., Bootwalla, Moiz S., Van Den Berg, David J., Triche, Timothy, Jr., Cho, Juok, DiCara, Daniel, Heiman, David, Lin, Pei, Mallard, William, Voet, Douglas, Zhang, Hailei, Zou, Lihua, Noble, Michael S., Gehlenborg, Nils, Thorvaldsdottir, Helga, Nazaire, Marc-Danie, Robinson, Jim, Aksoy, B. Arman, Ciriello, Giovanni, Taylor, Barry S., Dresdner, Gideon, Gao, Jianjiong, Gross, Benjamin, Seshan, Venkatraman E., Reva, Boris, Sumer, S. Onur, Weinhold, Nils, Sander, Chris, Zhu, Jingchun, Benz, Christopher C., Yau, Christina, Haussler, David, Spellman, Paul T., Kimes, Patrick K., Broom, Bradley M., Wang, Jing, Lu, Yiling, Diao, Lixia, Liu, Wenbin, Amos, Christopher I., Akbani, Rehan, Mills, Gordon B., Curley, Erin, Paulauskis, Joseph, Lau, Kevin, Morris, Scott, Shelton, Troy, Mallery, David, Gardner, Johanna, Penny, Robert, Saller, Charles, Tarvin, Katherine, Richards, William G., Cerfolio, Robert, Bryant, Ayesha, Raymond, Daniel P., Pennell, Nathan A., Farver, Carol, Czerwinski, Christine, Huelsenbeck-Dill, Lori, Iacocca, Mary, Petrelli, Nicholas, Rabeno, Brenda, Brown, Jennifer, Bauer, Thomas, Dolzhanskiy, Oleg, Potapova, Olga, Rotin, Daniil, Voronina, Olga, Nemirovich-Danchenko, Elena, Fedosenko, Konstantin V., Gal, Anthony, Behera, Madhusmita, Ramalingam, Suresh S., Sica, Gabriel, Flieder, Douglas, Boyd, Jeff, Weaver, JoEllen, Kohl, Bernard, Sandusky, George, Juhl, Hartmut, Duhig, Edwina, Illei, Peter, Gabrielson, Edward, Shin, James, Lee, Beverly, Rogers, Kristen, Trusty, Dante, Brock, Malcolm V., Williamson, Christina, Burks, Eric, Rieger-Christ, Kimberly, Holway, Antonia, Sullivan, Travis, Asiedu, Michael K., Kosari, Farhad, Rekhtman, Natasha, Zakowski, Maureen, Rusch, Valerie W., Zippile, Paul, Suh, James, Pass, Harvey, Goparaju, Chandra, Owusu-Sarpong, Yvonne, Bartlett, John M. S., Kodeeswaran, Sugy, Parfitt, Jeremy, Sekhon, Harmanjatinder, Albert, Monique, Eckman, John, Myers, Jerome B., Cheney, Richard, Morrison, Carl, Gaudioso, Carmelo, Borgia, Jeffrey A., Bonomi, Philip, Pool, Mark, Liptay, Michael J., Moiseenko, Fedor, Zaytseva, Irina, Dienemann, Hendrik, Meister, Michael, Schnabel, Philipp A., Muley, Thomas R., Peifer, Martin, Gomez-Fernandez, Carmen, Herbert, Lynn, Egea, Sophie, Huang, Mei, Thorne, Leigh B., Boice, Lori, Salazar, Ashley Hill, Funkhouser, William K., Rathmell, W. Kimryn, Dhir, Rajiv, Yousem, Samuel A., Dacic, Sanja, Schneider, Frank, Siegfried, Jill M., Hajek, Richard, Watson, Mark A., McDonald, Sandra, Meyers, Bryan, Clarke, Belinda, Yang, Ian A., Fong, Kwun M., Hunter, Lindy, Windsor, Morgan, Bowman, Rayleen V., Peters, Solange, Letovanec, Igor, Khan, Khurram Z., Jensen, Mark A., Snyder, Eric E., Srinivasan, Deepak, Kahn, Ari B., Baboud, Julien, Pot, David A., Shaw, Kenna R. Mills, Sheth, Margi, Davidsen, Tanja, Demchok, John A., Yang, Liming, Wang, Zhining, Tarnuzzer, Roy, Zenklusen, Jean Claude, Ozenberger, Bradley A., and Sofia, Heidi J.
Abstract: Adenocarcinoma of the lung is the leading cause of cancer death worldwide. Here we report molecular profiling of 230 resected lung adenocarcinomas using messenger RNA, microRNA and DNA sequencing integrated with copy number, methylation and proteomic analyses. High rates of somatic mutation were seen(mean 8.9 mutations per megabase). Eighteen genes were statistically significantly mutated, including RIT1 activating mutations and newly described loss-of-function MGA mutations which are mutually exclusive with focal MYC amplification. EGFR mutations were more frequent in female patients, whereas mutations in RBM10 were more common in males. Aberrations in NF1, MET, ERBB2 and RIT1 occurred in 13% of cases and were enriched in samples otherwise lacking an activated oncogene, suggesting a driver role for these events in certain tumours. DNA and mRNA sequence from the same tumour highlighted splicing alterations driven by somatic genomic changes, including exon 14 skipping in MET mRNA in 4% of cases. MAPK and PI(3)K pathway activity, when measured at the protein level, was explained by known mutations in only a fraction of cases, suggesting additional, unexplained mechanisms of pathway activation. These data establish a foundation for classification and further investigations of lung adenocarcinoma molecular pathogenesis.
Published: 2014

5. Comprehensive genomic characterization of squamous cell lung cancers

Author: Hammerman, Peter S., Lawrence, Michael S., Voet, Douglas, Jing, Rui, Cibulskis, Kristian, Sivachenko, Andrey, Stojanov, Petar, McKenna, Aaron, Lander, Eric S., Gabriel, Stacey, Getz, Gad, Sougnez, Carrie, Imielinski, Marcin, Helman, Elena, Hernandez, Bryan, Pho, Nam H., Meyerson, Matthew, Chu, Andy, Chun, Hye-Jung E., Mungall, Andrew J., Pleasance, Erin, Robertson, A. Gordon, Sipahimalani, Payal, Stoll, Dominik, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron S. N., Chuah, Eric, Coope, Robin J. N., Corbett, Richard, Dhalla, Noreen, Guin, Ranabir, Hirst, Anhe Carrie, Hirst, Martin, Holt, Robert A., Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Karen, Nip, Ka Ming, Olshen, Adam, Schein, Jacqueline E., Slobodan, Jared R., Tam, Angela, Thiessen, Nina, Varhol, Richard, Zeng, Thomas, Zhao, Yongjun, Jones, Steven J. M., Marra, Marco A., Saksena, Gordon, Cherniack, Andrew D., Schumacher, Stephen E., Tabak, Barbara, Carter, Scott L., Nguyen, Huy, Onofrio, Robert C., Crenshaw, Andrew, Ardlie, Kristin, Beroukhim, Rameen, Winckler, Wendy, Protopopov, Alexei, Zhang, Jianhua, Hadjipanayis, Angela, Lee, Semin, Xi, Ruibin, Yang, Lixing, Ren, Xiaojia, Zhang, Hailei, Shukla, Sachet, Chen, Peng-Chieh, Haseley, Psalm, Lee, Eunjung, Chin, Lynda, Park, Peter J., Kucherlapati, Raju, Socci, Nicholas D., Liang, Yupu, Schultz, Nikolaus, Borsu, Laetitia, Lash, Alex E., Viale, Agnes, Sander, Chris, Ladanyi, Marc, Auman, J. Todd, Hoadley, Katherine A., Wilkerson, Matthew D., Shi, Yan, Liquori, Christina, Meng, Shaowu, Li, Ling, Turman, Yidi J., Topal, Michael D., Tan, Donghui, Waring, Scot, Buda, Elizabeth, Walsh, Jesse, Jones, Corbin D., Mieczkowski, Piotr A., Singh, Darshan, Wu, Junyuan, Gulabani, Anisha, Dolina, Peter, Bodenheimer, Tom, Hoyle, Alan P., Simons, Janae V., Soloway, Matthew G., Mose, Lisle E., Jefferys, Stuart R., Balu, Saianand, O'Connor, Brian D., Prins, Jan F., Liu, Jinze, Chiang, Derek Y., Hayes, D. Neil, Perou, Charles M., Cope, Leslie, Danilova, Ludmila, Weisenberger, Daniel J., Maglinte, Dennis T., Pan, Fei, Van den Berg, David J., Triche, Timothy, Herman, James G., Baylin, Stephen B., Laird, Peter W., Noble, Michael, Voet, Doug, Gehlenborg, Nils, DiCara, Daniel, Zhang, Jinhua, Wu, Chang-Jiun, Liu, Spring Yingchun, Zou, Lihua, Lin, Pei, Cho, Juok, Nazaire, Marc-Danie, Robinson, Jim, Thorvaldsdottir, Helga, Mesirov, Jill, Sinha, Rileen, Ciriello, Giovanni, Cerami, Ethan, Gross, Benjamin, Jacobsen, Anders, Gao, Jianjiong, Aksoy, B. Arman, Weinhold, Nils, Ramirez, Ricardo, Taylor, Barry S., Antipin, Yevgeniy, Reva, Boris, Shen, Ronglai, Mo, Qianxing, Seshan, Venkatraman, Paik, Paul K., Akbani, Rehan, Zhang, Nianxiang, Broom, Bradley M., Casasent, Tod, Unruh, Anna, Wakefield, Chris, Cason, R. Craig, Baggerly, Keith A., Weinstein, John N., Haussler, David, Benz, Christopher C., Stuart, Joshua M., Zhu, Jingchun, Szeto, Christopher, Scott, Gary K., Yau, Christina, Ng, Sam, Goldstein, Ted, Waltman, Peter, Sokolov, Artem, Ellrott, Kyle, Collisson, Eric A., Zerbino, Daniel, Wilks, Christopher, Ma, Singer, Craft, Brian, Du, Ying, Cabanski, Christopher, Walter, Vonn, Marron, J. S., Liu, Yufeng, Wang, Kai, Creighton, Chad J., Zhang, Yiqun, Travis, William D., Rekhtman, Natasha, Yi, Joanne, Aubry, Marie C., Cheney, Richard, Dacic, Sanja, Flieder, Douglas, Funkhouser, William, Illei, Peter, Myers, Jerome, Tsao, Ming-Sound, Penny, Robert, Mallery, David, Shelton, Troy, Hatfield, Martha, Morris, Scott, Yena, Peggy, Shelton, Candace, Sherman, Mark, Paulauskis, Joseph, Govindan, Ramaswamy, Azodo, Ijeoma, Beer, David, Bose, Ron, Byers, Lauren A., Carbone, David, Chang, Li-Wei, Chiang, Derek, Chun, Elizabeth, Collisson, Eric, Ding, Li, Heymach, John, Ida, Cristiane, Johnson, Bruce, Jurisica, Igor, Kaufman, Jacob, Kosari, Farhad, Kwiatkowski, David, Maher, Christopher A., Mungall, Andy, Pao, William, Peifer, Martin, Robertson, Gordon, Rusch, Valerie, Siegfried, Jill, Stuart, Joshua, Thomas, Roman K., Tomaszek, Sandra, Vaske, Charles, Weisenberger, Daniel, Wheeler, David, Wigle, Dennis A., Yang, Ping, Zhang, Jianjua John, Jensen, Mark A., Sfeir, Robert, Kahn, Ari B., Chu, Anna L., Kothiyal, Prachi, Wang, Zhining, Snyder, Eric E., Pontius, Joan, Pihl, Todd D., Ayala, Brenda, Backus, Mark, Walton, Jessica, Baboud, Julien, Berton, Dominique L., Nicholls, Matthew C., Srinivasan, Deepak, Raman, Rohini, Girshik, Stanley, Kigonya, Peter A., Alonso, Shelley, Sanbhadti, Rashmi N., Barletta, Sean P., Greene, John M., Pot, David A., Bandarchi-Chamkhaleh, Bizhan, Boyd, Jeff, Weaver, JoEllen, Azodo, Ijeoma A., Tomaszek, Sandra C., Aubry, Marie Christine, Ida, Christiane M., Brock, Malcolm V., Rogers, Kristen, Rutledge, Marian, Brown, Travis, Lee, Beverly, Shin, James, Trusty, Dante, Dhir, Rajiv, Siegfried, Jill M., Potapova, Olga, Fedosenko, Konstantin V., Nemirovich-Danchenko, Elena, Zakowski, Maureen, Iacocca, Mary V., Brown, Jennifer, Rabeno, Brenda, Czerwinski, Christine, Petrelli, Nicholas, Fan, Zhen, Todaro, Nicole, Eckman, John, Rathmell, W. Kimryn, Thorne, Leigh B., Huang, Mei, Boice, Lori, Hill, Ashley, Curley, Erin, Morrison, Carl, Gaudioso, Carmelo, Bartlett, Johnm. S., Kodeeswaran, Sugy, Zanke, Brent, Sekhon, Harman, David, Kerstin, Juhl, Hartmut, Van Le, Xuan, Kohl, Bernard, Thorp, Richard, Tien, Nguyen Viet, Van Bang, Nguyen, Sussman, Howard, Phu, Bui Duc, Hajek, Richard, PhiHung, Nguyen, Khan, Khurram Z., Muley, Thomas, Shaw, Kenna R. Mills, Sheth, Margi, Yang, Liming, Buetow, Ken, Davidsen, Tanja, Demchok, John A., Eley, Greg, Ferguson, Martin, Dillon, Laura A. L., Schaefer, Carl, Guyer, Mark S., Ozenberger, Bradley A., Palchik, Jacqueline D., Peterson, Jane, Sofia, Heidi J., Thomson, Elizabeth, Hammerman, Peter S., Lawrence, Michael S., Voet, Douglas, Jing, Rui, Cibulskis, Kristian, Sivachenko, Andrey, Stojanov, Petar, McKenna, Aaron, Lander, Eric S., Gabriel, Stacey, Getz, Gad, Sougnez, Carrie, Imielinski, Marcin, Helman, Elena, Hernandez, Bryan, Pho, Nam H., Meyerson, Matthew, Chu, Andy, Chun, Hye-Jung E., Mungall, Andrew J., Pleasance, Erin, Robertson, A. Gordon, Sipahimalani, Payal, Stoll, Dominik, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron S. N., Chuah, Eric, Coope, Robin J. N., Corbett, Richard, Dhalla, Noreen, Guin, Ranabir, Hirst, Anhe Carrie, Hirst, Martin, Holt, Robert A., Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Karen, Nip, Ka Ming, Olshen, Adam, Schein, Jacqueline E., Slobodan, Jared R., Tam, Angela, Thiessen, Nina, Varhol, Richard, Zeng, Thomas, Zhao, Yongjun, Jones, Steven J. M., Marra, Marco A., Saksena, Gordon, Cherniack, Andrew D., Schumacher, Stephen E., Tabak, Barbara, Carter, Scott L., Nguyen, Huy, Onofrio, Robert C., Crenshaw, Andrew, Ardlie, Kristin, Beroukhim, Rameen, Winckler, Wendy, Protopopov, Alexei, Zhang, Jianhua, Hadjipanayis, Angela, Lee, Semin, Xi, Ruibin, Yang, Lixing, Ren, Xiaojia, Zhang, Hailei, Shukla, Sachet, Chen, Peng-Chieh, Haseley, Psalm, Lee, Eunjung, Chin, Lynda, Park, Peter J., Kucherlapati, Raju, Socci, Nicholas D., Liang, Yupu, Schultz, Nikolaus, Borsu, Laetitia, Lash, Alex E., Viale, Agnes, Sander, Chris, Ladanyi, Marc, Auman, J. Todd, Hoadley, Katherine A., Wilkerson, Matthew D., Shi, Yan, Liquori, Christina, Meng, Shaowu, Li, Ling, Turman, Yidi J., Topal, Michael D., Tan, Donghui, Waring, Scot, Buda, Elizabeth, Walsh, Jesse, Jones, Corbin D., Mieczkowski, Piotr A., Singh, Darshan, Wu, Junyuan, Gulabani, Anisha, Dolina, Peter, Bodenheimer, Tom, Hoyle, Alan P., Simons, Janae V., Soloway, Matthew G., Mose, Lisle E., Jefferys, Stuart R., Balu, Saianand, O'Connor, Brian D., Prins, Jan F., Liu, Jinze, Chiang, Derek Y., Hayes, D. Neil, Perou, Charles M., Cope, Leslie, Danilova, Ludmila, Weisenberger, Daniel J., Maglinte, Dennis T., Pan, Fei, Van den Berg, David J., Triche, Timothy, Herman, James G., Baylin, Stephen B., Laird, Peter W., Noble, Michael, Voet, Doug, Gehlenborg, Nils, DiCara, Daniel, Zhang, Jinhua, Wu, Chang-Jiun, Liu, Spring Yingchun, Zou, Lihua, Lin, Pei, Cho, Juok, Nazaire, Marc-Danie, Robinson, Jim, Thorvaldsdottir, Helga, Mesirov, Jill, Sinha, Rileen, Ciriello, Giovanni, Cerami, Ethan, Gross, Benjamin, Jacobsen, Anders, Gao, Jianjiong, Aksoy, B. Arman, Weinhold, Nils, Ramirez, Ricardo, Taylor, Barry S., Antipin, Yevgeniy, Reva, Boris, Shen, Ronglai, Mo, Qianxing, Seshan, Venkatraman, Paik, Paul K., Akbani, Rehan, Zhang, Nianxiang, Broom, Bradley M., Casasent, Tod, Unruh, Anna, Wakefield, Chris, Cason, R. Craig, Baggerly, Keith A., Weinstein, John N., Haussler, David, Benz, Christopher C., Stuart, Joshua M., Zhu, Jingchun, Szeto, Christopher, Scott, Gary K., Yau, Christina, Ng, Sam, Goldstein, Ted, Waltman, Peter, Sokolov, Artem, Ellrott, Kyle, Collisson, Eric A., Zerbino, Daniel, Wilks, Christopher, Ma, Singer, Craft, Brian, Du, Ying, Cabanski, Christopher, Walter, Vonn, Marron, J. S., Liu, Yufeng, Wang, Kai, Creighton, Chad J., Zhang, Yiqun, Travis, William D., Rekhtman, Natasha, Yi, Joanne, Aubry, Marie C., Cheney, Richard, Dacic, Sanja, Flieder, Douglas, Funkhouser, William, Illei, Peter, Myers, Jerome, Tsao, Ming-Sound, Penny, Robert, Mallery, David, Shelton, Troy, Hatfield, Martha, Morris, Scott, Yena, Peggy, Shelton, Candace, Sherman, Mark, Paulauskis, Joseph, Govindan, Ramaswamy, Azodo, Ijeoma, Beer, David, Bose, Ron, Byers, Lauren A., Carbone, David, Chang, Li-Wei, Chiang, Derek, Chun, Elizabeth, Collisson, Eric, Ding, Li, Heymach, John, Ida, Cristiane, Johnson, Bruce, Jurisica, Igor, Kaufman, Jacob, Kosari, Farhad, Kwiatkowski, David, Maher, Christopher A., Mungall, Andy, Pao, William, Peifer, Martin, Robertson, Gordon, Rusch, Valerie, Siegfried, Jill, Stuart, Joshua, Thomas, Roman K., Tomaszek, Sandra, Vaske, Charles, Weisenberger, Daniel, Wheeler, David, Wigle, Dennis A., Yang, Ping, Zhang, Jianjua John, Jensen, Mark A., Sfeir, Robert, Kahn, Ari B., Chu, Anna L., Kothiyal, Prachi, Wang, Zhining, Snyder, Eric E., Pontius, Joan, Pihl, Todd D., Ayala, Brenda, Backus, Mark, Walton, Jessica, Baboud, Julien, Berton, Dominique L., Nicholls, Matthew C., Srinivasan, Deepak, Raman, Rohini, Girshik, Stanley, Kigonya, Peter A., Alonso, Shelley, Sanbhadti, Rashmi N., Barletta, Sean P., Greene, John M., Pot, David A., Bandarchi-Chamkhaleh, Bizhan, Boyd, Jeff, Weaver, JoEllen, Azodo, Ijeoma A., Tomaszek, Sandra C., Aubry, Marie Christine, Ida, Christiane M., Brock, Malcolm V., Rogers, Kristen, Rutledge, Marian, Brown, Travis, Lee, Beverly, Shin, James, Trusty, Dante, Dhir, Rajiv, Siegfried, Jill M., Potapova, Olga, Fedosenko, Konstantin V., Nemirovich-Danchenko, Elena, Zakowski, Maureen, Iacocca, Mary V., Brown, Jennifer, Rabeno, Brenda, Czerwinski, Christine, Petrelli, Nicholas, Fan, Zhen, Todaro, Nicole, Eckman, John, Rathmell, W. Kimryn, Thorne, Leigh B., Huang, Mei, Boice, Lori, Hill, Ashley, Curley, Erin, Morrison, Carl, Gaudioso, Carmelo, Bartlett, Johnm. S., Kodeeswaran, Sugy, Zanke, Brent, Sekhon, Harman, David, Kerstin, Juhl, Hartmut, Van Le, Xuan, Kohl, Bernard, Thorp, Richard, Tien, Nguyen Viet, Van Bang, Nguyen, Sussman, Howard, Phu, Bui Duc, Hajek, Richard, PhiHung, Nguyen, Khan, Khurram Z., Muley, Thomas, Shaw, Kenna R. Mills, Sheth, Margi, Yang, Liming, Buetow, Ken, Davidsen, Tanja, Demchok, John A., Eley, Greg, Ferguson, Martin, Dillon, Laura A. L., Schaefer, Carl, Guyer, Mark S., Ozenberger, Bradley A., Palchik, Jacqueline D., Peterson, Jane, Sofia, Heidi J., and Thomson, Elizabeth
Abstract: Lung squamous cell carcinoma is a common type of lung cancer, causing approximately 400,000 deaths per year worldwide. Genomic alterations in squamous cell lung cancers have not been comprehensively characterized, and no molecularly targeted agents have been specifically developed for its treatment. As part of The Cancer Genome Atlas, here we profile 178 lung squamous cell carcinomas to provide a comprehensive landscape of genomic and epigenomic alterations. We show that the tumour type is characterized by complex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumour. We find statistically recurrent mutations in 11 genes, including mutation of TP53 in nearly all specimens. Previously unreported loss-of-function mutations are seen in the HLA-A class I major histocompatibility gene. Significantly altered pathways included NFE2L2 and KEAP1 in 34%, squamous differentiation genes in 44%, phosphatidylinositol-3-OH kinase pathway genes in 47%, and CDKN2A and RB1 in 72% of tumours. We identified a potential therapeutic target in most tumours, offering new avenues of investigation for the treatment of squamous cell lung cancers.
Published: 2012

6. Comprehensive genomic characterization of squamous cell lung cancers

Author: Hammerman, Peter S., Lawrence, Michael S., Voet, Douglas, Jing, Rui, Cibulskis, Kristian, Sivachenko, Andrey, Stojanov, Petar, McKenna, Aaron, Lander, Eric S., Gabriel, Stacey, Getz, Gad, Sougnez, Carrie, Imielinski, Marcin, Helman, Elena, Hernandez, Bryan, Pho, Nam H., Meyerson, Matthew, Chu, Andy, Chun, Hye-Jung E., Mungall, Andrew J., Pleasance, Erin, Robertson, A. Gordon, Sipahimalani, Payal, Stoll, Dominik, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron S. N., Chuah, Eric, Coope, Robin J. N., Corbett, Richard, Dhalla, Noreen, Guin, Ranabir, Hirst, Anhe Carrie, Hirst, Martin, Holt, Robert A., Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Karen, Nip, Ka Ming, Olshen, Adam, Schein, Jacqueline E., Slobodan, Jared R., Tam, Angela, Thiessen, Nina, Varhol, Richard, Zeng, Thomas, Zhao, Yongjun, Jones, Steven J. M., Marra, Marco A., Saksena, Gordon, Cherniack, Andrew D., Schumacher, Stephen E., Tabak, Barbara, Carter, Scott L., Nguyen, Huy, Onofrio, Robert C., Crenshaw, Andrew, Ardlie, Kristin, Beroukhim, Rameen, Winckler, Wendy, Protopopov, Alexei, Zhang, Jianhua, Hadjipanayis, Angela, Lee, Semin, Xi, Ruibin, Yang, Lixing, Ren, Xiaojia, Zhang, Hailei, Shukla, Sachet, Chen, Peng-Chieh, Haseley, Psalm, Lee, Eunjung, Chin, Lynda, Park, Peter J., Kucherlapati, Raju, Socci, Nicholas D., Liang, Yupu, Schultz, Nikolaus, Borsu, Laetitia, Lash, Alex E., Viale, Agnes, Sander, Chris, Ladanyi, Marc, Auman, J. Todd, Hoadley, Katherine A., Wilkerson, Matthew D., Shi, Yan, Liquori, Christina, Meng, Shaowu, Li, Ling, Turman, Yidi J., Topal, Michael D., Tan, Donghui, Waring, Scot, Buda, Elizabeth, Walsh, Jesse, Jones, Corbin D., Mieczkowski, Piotr A., Singh, Darshan, Wu, Junyuan, Gulabani, Anisha, Dolina, Peter, Bodenheimer, Tom, Hoyle, Alan P., Simons, Janae V., Soloway, Matthew G., Mose, Lisle E., Jefferys, Stuart R., Balu, Saianand, O'Connor, Brian D., Prins, Jan F., Liu, Jinze, Chiang, Derek Y., Hayes, D. Neil, Perou, Charles M., Cope, Leslie, Danilova, Ludmila, Weisenberger, Daniel J., Maglinte, Dennis T., Pan, Fei, Van den Berg, David J., Triche, Timothy, Herman, James G., Baylin, Stephen B., Laird, Peter W., Noble, Michael, Voet, Doug, Gehlenborg, Nils, DiCara, Daniel, Zhang, Jinhua, Wu, Chang-Jiun, Liu, Spring Yingchun, Zou, Lihua, Lin, Pei, Cho, Juok, Nazaire, Marc-Danie, Robinson, Jim, Thorvaldsdottir, Helga, Mesirov, Jill, Sinha, Rileen, Ciriello, Giovanni, Cerami, Ethan, Gross, Benjamin, Jacobsen, Anders, Gao, Jianjiong, Aksoy, B. Arman, Weinhold, Nils, Ramirez, Ricardo, Taylor, Barry S., Antipin, Yevgeniy, Reva, Boris, Shen, Ronglai, Mo, Qianxing, Seshan, Venkatraman, Paik, Paul K., Akbani, Rehan, Zhang, Nianxiang, Broom, Bradley M., Casasent, Tod, Unruh, Anna, Wakefield, Chris, Cason, R. Craig, Baggerly, Keith A., Weinstein, John N., Haussler, David, Benz, Christopher C., Stuart, Joshua M., Zhu, Jingchun, Szeto, Christopher, Scott, Gary K., Yau, Christina, Ng, Sam, Goldstein, Ted, Waltman, Peter, Sokolov, Artem, Ellrott, Kyle, Collisson, Eric A., Zerbino, Daniel, Wilks, Christopher, Ma, Singer, Craft, Brian, Du, Ying, Cabanski, Christopher, Walter, Vonn, Marron, J. S., Liu, Yufeng, Wang, Kai, Creighton, Chad J., Zhang, Yiqun, Travis, William D., Rekhtman, Natasha, Yi, Joanne, Aubry, Marie C., Cheney, Richard, Dacic, Sanja, Flieder, Douglas, Funkhouser, William, Illei, Peter, Myers, Jerome, Tsao, Ming-Sound, Penny, Robert, Mallery, David, Shelton, Troy, Hatfield, Martha, Morris, Scott, Yena, Peggy, Shelton, Candace, Sherman, Mark, Paulauskis, Joseph, Govindan, Ramaswamy, Azodo, Ijeoma, Beer, David, Bose, Ron, Byers, Lauren A., Carbone, David, Chang, Li-Wei, Chiang, Derek, Chun, Elizabeth, Collisson, Eric, Ding, Li, Heymach, John, Ida, Cristiane, Johnson, Bruce, Jurisica, Igor, Kaufman, Jacob, Kosari, Farhad, Kwiatkowski, David, Maher, Christopher A., Mungall, Andy, Pao, William, Peifer, Martin, Robertson, Gordon, Rusch, Valerie, Siegfried, Jill, Stuart, Joshua, Thomas, Roman K., Tomaszek, Sandra, Vaske, Charles, Weisenberger, Daniel, Wheeler, David, Wigle, Dennis A., Yang, Ping, Zhang, Jianjua John, Jensen, Mark A., Sfeir, Robert, Kahn, Ari B., Chu, Anna L., Kothiyal, Prachi, Wang, Zhining, Snyder, Eric E., Pontius, Joan, Pihl, Todd D., Ayala, Brenda, Backus, Mark, Walton, Jessica, Baboud, Julien, Berton, Dominique L., Nicholls, Matthew C., Srinivasan, Deepak, Raman, Rohini, Girshik, Stanley, Kigonya, Peter A., Alonso, Shelley, Sanbhadti, Rashmi N., Barletta, Sean P., Greene, John M., Pot, David A., Bandarchi-Chamkhaleh, Bizhan, Boyd, Jeff, Weaver, JoEllen, Azodo, Ijeoma A., Tomaszek, Sandra C., Aubry, Marie Christine, Ida, Christiane M., Brock, Malcolm V., Rogers, Kristen, Rutledge, Marian, Brown, Travis, Lee, Beverly, Shin, James, Trusty, Dante, Dhir, Rajiv, Siegfried, Jill M., Potapova, Olga, Fedosenko, Konstantin V., Nemirovich-Danchenko, Elena, Zakowski, Maureen, Iacocca, Mary V., Brown, Jennifer, Rabeno, Brenda, Czerwinski, Christine, Petrelli, Nicholas, Fan, Zhen, Todaro, Nicole, Eckman, John, Rathmell, W. Kimryn, Thorne, Leigh B., Huang, Mei, Boice, Lori, Hill, Ashley, Curley, Erin, Morrison, Carl, Gaudioso, Carmelo, Bartlett, Johnm. S., Kodeeswaran, Sugy, Zanke, Brent, Sekhon, Harman, David, Kerstin, Juhl, Hartmut, Van Le, Xuan, Kohl, Bernard, Thorp, Richard, Tien, Nguyen Viet, Van Bang, Nguyen, Sussman, Howard, Phu, Bui Duc, Hajek, Richard, PhiHung, Nguyen, Khan, Khurram Z., Muley, Thomas, Shaw, Kenna R. Mills, Sheth, Margi, Yang, Liming, Buetow, Ken, Davidsen, Tanja, Demchok, John A., Eley, Greg, Ferguson, Martin, Dillon, Laura A. L., Schaefer, Carl, Guyer, Mark S., Ozenberger, Bradley A., Palchik, Jacqueline D., Peterson, Jane, Sofia, Heidi J., Thomson, Elizabeth, Hammerman, Peter S., Lawrence, Michael S., Voet, Douglas, Jing, Rui, Cibulskis, Kristian, Sivachenko, Andrey, Stojanov, Petar, McKenna, Aaron, Lander, Eric S., Gabriel, Stacey, Getz, Gad, Sougnez, Carrie, Imielinski, Marcin, Helman, Elena, Hernandez, Bryan, Pho, Nam H., Meyerson, Matthew, Chu, Andy, Chun, Hye-Jung E., Mungall, Andrew J., Pleasance, Erin, Robertson, A. Gordon, Sipahimalani, Payal, Stoll, Dominik, Balasundaram, Miruna, Birol, Inanc, Butterfield, Yaron S. N., Chuah, Eric, Coope, Robin J. N., Corbett, Richard, Dhalla, Noreen, Guin, Ranabir, Hirst, Anhe Carrie, Hirst, Martin, Holt, Robert A., Lee, Darlene, Li, Haiyan I., Mayo, Michael, Moore, Richard A., Mungall, Karen, Nip, Ka Ming, Olshen, Adam, Schein, Jacqueline E., Slobodan, Jared R., Tam, Angela, Thiessen, Nina, Varhol, Richard, Zeng, Thomas, Zhao, Yongjun, Jones, Steven J. M., Marra, Marco A., Saksena, Gordon, Cherniack, Andrew D., Schumacher, Stephen E., Tabak, Barbara, Carter, Scott L., Nguyen, Huy, Onofrio, Robert C., Crenshaw, Andrew, Ardlie, Kristin, Beroukhim, Rameen, Winckler, Wendy, Protopopov, Alexei, Zhang, Jianhua, Hadjipanayis, Angela, Lee, Semin, Xi, Ruibin, Yang, Lixing, Ren, Xiaojia, Zhang, Hailei, Shukla, Sachet, Chen, Peng-Chieh, Haseley, Psalm, Lee, Eunjung, Chin, Lynda, Park, Peter J., Kucherlapati, Raju, Socci, Nicholas D., Liang, Yupu, Schultz, Nikolaus, Borsu, Laetitia, Lash, Alex E., Viale, Agnes, Sander, Chris, Ladanyi, Marc, Auman, J. Todd, Hoadley, Katherine A., Wilkerson, Matthew D., Shi, Yan, Liquori, Christina, Meng, Shaowu, Li, Ling, Turman, Yidi J., Topal, Michael D., Tan, Donghui, Waring, Scot, Buda, Elizabeth, Walsh, Jesse, Jones, Corbin D., Mieczkowski, Piotr A., Singh, Darshan, Wu, Junyuan, Gulabani, Anisha, Dolina, Peter, Bodenheimer, Tom, Hoyle, Alan P., Simons, Janae V., Soloway, Matthew G., Mose, Lisle E., Jefferys, Stuart R., Balu, Saianand, O'Connor, Brian D., Prins, Jan F., Liu, Jinze, Chiang, Derek Y., Hayes, D. Neil, Perou, Charles M., Cope, Leslie, Danilova, Ludmila, Weisenberger, Daniel J., Maglinte, Dennis T., Pan, Fei, Van den Berg, David J., Triche, Timothy, Herman, James G., Baylin, Stephen B., Laird, Peter W., Noble, Michael, Voet, Doug, Gehlenborg, Nils, DiCara, Daniel, Zhang, Jinhua, Wu, Chang-Jiun, Liu, Spring Yingchun, Zou, Lihua, Lin, Pei, Cho, Juok, Nazaire, Marc-Danie, Robinson, Jim, Thorvaldsdottir, Helga, Mesirov, Jill, Sinha, Rileen, Ciriello, Giovanni, Cerami, Ethan, Gross, Benjamin, Jacobsen, Anders, Gao, Jianjiong, Aksoy, B. Arman, Weinhold, Nils, Ramirez, Ricardo, Taylor, Barry S., Antipin, Yevgeniy, Reva, Boris, Shen, Ronglai, Mo, Qianxing, Seshan, Venkatraman, Paik, Paul K., Akbani, Rehan, Zhang, Nianxiang, Broom, Bradley M., Casasent, Tod, Unruh, Anna, Wakefield, Chris, Cason, R. Craig, Baggerly, Keith A., Weinstein, John N., Haussler, David, Benz, Christopher C., Stuart, Joshua M., Zhu, Jingchun, Szeto, Christopher, Scott, Gary K., Yau, Christina, Ng, Sam, Goldstein, Ted, Waltman, Peter, Sokolov, Artem, Ellrott, Kyle, Collisson, Eric A., Zerbino, Daniel, Wilks, Christopher, Ma, Singer, Craft, Brian, Du, Ying, Cabanski, Christopher, Walter, Vonn, Marron, J. S., Liu, Yufeng, Wang, Kai, Creighton, Chad J., Zhang, Yiqun, Travis, William D., Rekhtman, Natasha, Yi, Joanne, Aubry, Marie C., Cheney, Richard, Dacic, Sanja, Flieder, Douglas, Funkhouser, William, Illei, Peter, Myers, Jerome, Tsao, Ming-Sound, Penny, Robert, Mallery, David, Shelton, Troy, Hatfield, Martha, Morris, Scott, Yena, Peggy, Shelton, Candace, Sherman, Mark, Paulauskis, Joseph, Govindan, Ramaswamy, Azodo, Ijeoma, Beer, David, Bose, Ron, Byers, Lauren A., Carbone, David, Chang, Li-Wei, Chiang, Derek, Chun, Elizabeth, Collisson, Eric, Ding, Li, Heymach, John, Ida, Cristiane, Johnson, Bruce, Jurisica, Igor, Kaufman, Jacob, Kosari, Farhad, Kwiatkowski, David, Maher, Christopher A., Mungall, Andy, Pao, William, Peifer, Martin, Robertson, Gordon, Rusch, Valerie, Siegfried, Jill, Stuart, Joshua, Thomas, Roman K., Tomaszek, Sandra, Vaske, Charles, Weisenberger, Daniel, Wheeler, David, Wigle, Dennis A., Yang, Ping, Zhang, Jianjua John, Jensen, Mark A., Sfeir, Robert, Kahn, Ari B., Chu, Anna L., Kothiyal, Prachi, Wang, Zhining, Snyder, Eric E., Pontius, Joan, Pihl, Todd D., Ayala, Brenda, Backus, Mark, Walton, Jessica, Baboud, Julien, Berton, Dominique L., Nicholls, Matthew C., Srinivasan, Deepak, Raman, Rohini, Girshik, Stanley, Kigonya, Peter A., Alonso, Shelley, Sanbhadti, Rashmi N., Barletta, Sean P., Greene, John M., Pot, David A., Bandarchi-Chamkhaleh, Bizhan, Boyd, Jeff, Weaver, JoEllen, Azodo, Ijeoma A., Tomaszek, Sandra C., Aubry, Marie Christine, Ida, Christiane M., Brock, Malcolm V., Rogers, Kristen, Rutledge, Marian, Brown, Travis, Lee, Beverly, Shin, James, Trusty, Dante, Dhir, Rajiv, Siegfried, Jill M., Potapova, Olga, Fedosenko, Konstantin V., Nemirovich-Danchenko, Elena, Zakowski, Maureen, Iacocca, Mary V., Brown, Jennifer, Rabeno, Brenda, Czerwinski, Christine, Petrelli, Nicholas, Fan, Zhen, Todaro, Nicole, Eckman, John, Rathmell, W. Kimryn, Thorne, Leigh B., Huang, Mei, Boice, Lori, Hill, Ashley, Curley, Erin, Morrison, Carl, Gaudioso, Carmelo, Bartlett, Johnm. S., Kodeeswaran, Sugy, Zanke, Brent, Sekhon, Harman, David, Kerstin, Juhl, Hartmut, Van Le, Xuan, Kohl, Bernard, Thorp, Richard, Tien, Nguyen Viet, Van Bang, Nguyen, Sussman, Howard, Phu, Bui Duc, Hajek, Richard, PhiHung, Nguyen, Khan, Khurram Z., Muley, Thomas, Shaw, Kenna R. Mills, Sheth, Margi, Yang, Liming, Buetow, Ken, Davidsen, Tanja, Demchok, John A., Eley, Greg, Ferguson, Martin, Dillon, Laura A. L., Schaefer, Carl, Guyer, Mark S., Ozenberger, Bradley A., Palchik, Jacqueline D., Peterson, Jane, Sofia, Heidi J., and Thomson, Elizabeth
Abstract: Lung squamous cell carcinoma is a common type of lung cancer, causing approximately 400,000 deaths per year worldwide. Genomic alterations in squamous cell lung cancers have not been comprehensively characterized, and no molecularly targeted agents have been specifically developed for its treatment. As part of The Cancer Genome Atlas, here we profile 178 lung squamous cell carcinomas to provide a comprehensive landscape of genomic and epigenomic alterations. We show that the tumour type is characterized by complex genomic alterations, with a mean of 360 exonic mutations, 165 genomic rearrangements, and 323 segments of copy number alteration per tumour. We find statistically recurrent mutations in 11 genes, including mutation of TP53 in nearly all specimens. Previously unreported loss-of-function mutations are seen in the HLA-A class I major histocompatibility gene. Significantly altered pathways included NFE2L2 and KEAP1 in 34%, squamous differentiation genes in 44%, phosphatidylinositol-3-OH kinase pathway genes in 47%, and CDKN2A and RB1 in 72% of tumours. We identified a potential therapeutic target in most tumours, offering new avenues of investigation for the treatment of squamous cell lung cancers.
Published: 2012

7. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping.

Author: Olshen, Adam B, Olshen, Adam B, Gold, Bert, Lohmueller, Kirk E, Struewing, Jeffery P, Satagopan, Jaya, Stefanov, Stefan A, Eskin, Eleazar, Kirchhoff, Tomas, Lautenberger, James A, Klein, Robert J, Friedman, Eitan, Norton, Larry, Ellis, Nathan A, Viale, Agnes, Lee, Catherine S, Borgen, Patrick I, Clark, Andrew G, Offit, Kenneth, Boyd, Jeff, Olshen, Adam B, Olshen, Adam B, Gold, Bert, Lohmueller, Kirk E, Struewing, Jeffery P, Satagopan, Jaya, Stefanov, Stefan A, Eskin, Eleazar, Kirchhoff, Tomas, Lautenberger, James A, Klein, Robert J, Friedman, Eitan, Norton, Larry, Ellis, Nathan A, Viale, Agnes, Lee, Catherine S, Borgen, Patrick I, Clark, Andrew G, Offit, Kenneth, and Boyd, Jeff
Abstract: BackgroundGenetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. To analyze patterns of genetic variation in AJ, genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap (CEU) individuals. 435,632 SNPs overlapped and met annotation criteria in the two groups.ResultsA small but significant global difference in allele frequencies between AJ and CEU was demonstrated by a mean FST of 0.009 (P < 0.001); large regions that differed were found on chromosomes 2 and 6. Haplotype blocks inferred from pairwise linkage disequilibrium (LD) statistics (Haploview) as well as by expectation-maximization haplotype phase inference (HAP) showed a greater number of haplotype blocks in AJ compared to CEU by Haploview (50,397 vs. 44,169) or by HAP (59,269 vs. 54,457). Average haplotype blocks were smaller in AJ compared to CEU (e.g., 36.8 kb vs. 40.5 kb HAP). Analysis of global patterns of local LD decay for closely-spaced SNPs in CEU demonstrated more LD, while for SNPs further apart, LD was slightly greater in the AJ. A likelihood ratio approach showed that runs of homozygous SNPs were approximately 20% longer in AJ. A principal components analysis was sufficient to completely resolve the CEU from the AJ.ConclusionLD in the AJ versus was lower than expected by some measures and higher by others. Any putative advantage in whole genome association mapping using the AJ population will be highly dependent on regional LD structure.
Published: 2008

8. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping.

Author: Olshen, Adam B, Olshen, Adam B, Gold, Bert, Lohmueller, Kirk E, Struewing, Jeffery P, Satagopan, Jaya, Stefanov, Stefan A, Eskin, Eleazar, Kirchhoff, Tomas, Lautenberger, James A, Klein, Robert J, Friedman, Eitan, Norton, Larry, Ellis, Nathan A, Viale, Agnes, Lee, Catherine S, Borgen, Patrick I, Clark, Andrew G, Offit, Kenneth, Boyd, Jeff, Olshen, Adam B, Olshen, Adam B, Gold, Bert, Lohmueller, Kirk E, Struewing, Jeffery P, Satagopan, Jaya, Stefanov, Stefan A, Eskin, Eleazar, Kirchhoff, Tomas, Lautenberger, James A, Klein, Robert J, Friedman, Eitan, Norton, Larry, Ellis, Nathan A, Viale, Agnes, Lee, Catherine S, Borgen, Patrick I, Clark, Andrew G, Offit, Kenneth, and Boyd, Jeff
Abstract: BackgroundGenetic isolates such as the Ashkenazi Jews (AJ) potentially offer advantages in mapping novel loci in whole genome disease association studies. To analyze patterns of genetic variation in AJ, genotypes of 101 healthy individuals were determined using the Affymetrix EAv3 500 K SNP array and compared to 60 CEPH-derived HapMap (CEU) individuals. 435,632 SNPs overlapped and met annotation criteria in the two groups.ResultsA small but significant global difference in allele frequencies between AJ and CEU was demonstrated by a mean FST of 0.009 (P < 0.001); large regions that differed were found on chromosomes 2 and 6. Haplotype blocks inferred from pairwise linkage disequilibrium (LD) statistics (Haploview) as well as by expectation-maximization haplotype phase inference (HAP) showed a greater number of haplotype blocks in AJ compared to CEU by Haploview (50,397 vs. 44,169) or by HAP (59,269 vs. 54,457). Average haplotype blocks were smaller in AJ compared to CEU (e.g., 36.8 kb vs. 40.5 kb HAP). Analysis of global patterns of local LD decay for closely-spaced SNPs in CEU demonstrated more LD, while for SNPs further apart, LD was slightly greater in the AJ. A likelihood ratio approach showed that runs of homozygous SNPs were approximately 20% longer in AJ. A principal components analysis was sufficient to completely resolve the CEU from the AJ.ConclusionLD in the AJ versus was lower than expected by some measures and higher by others. Any putative advantage in whole genome association mapping using the AJ population will be highly dependent on regional LD structure.
Published: 2008

9. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management

Author: Suriano, Gianpaolo, Yew, Sandie, Ferreira, Paulo, Senz, Janine, Kaurah, Pardeep, Ford, James M, Longacre, Teri A, Norton, Jeffrey A, Chun, Nicki, Young, Sean, Oliveira, Maria J, Macgillivray, Barbara, Rao, Arundhati, Sears, Dawn, Jackson, Charles E, Boyd, Jeff, Yee, Cindy, Deters, Carolyn, Pai, G Shashidhar, Hammond, Lyn S, McGivern, Bobbi J, Medgyesy, Diane, Sartz, Denise, Arun, Banu, Oelschlager, Brant K, Upton, Mellisa P, Neufeld-Kaiser, Whitney, Silva, Orlando E, Donenberg, Talia R, Kooby, David A, Sharma, Shobha, Jonsson, Björn-Anders, Grönberg, Henrik, Gallinger, Steve, Seruca, Raquel, Lynch, Henry, Huntsman, David G, Suriano, Gianpaolo, Yew, Sandie, Ferreira, Paulo, Senz, Janine, Kaurah, Pardeep, Ford, James M, Longacre, Teri A, Norton, Jeffrey A, Chun, Nicki, Young, Sean, Oliveira, Maria J, Macgillivray, Barbara, Rao, Arundhati, Sears, Dawn, Jackson, Charles E, Boyd, Jeff, Yee, Cindy, Deters, Carolyn, Pai, G Shashidhar, Hammond, Lyn S, McGivern, Bobbi J, Medgyesy, Diane, Sartz, Denise, Arun, Banu, Oelschlager, Brant K, Upton, Mellisa P, Neufeld-Kaiser, Whitney, Silva, Orlando E, Donenberg, Talia R, Kooby, David A, Sharma, Shobha, Jonsson, Björn-Anders, Grönberg, Henrik, Gallinger, Steve, Seruca, Raquel, Lynch, Henry, and Huntsman, David G
Published: 2005

10. Gene expression profiles associated with response to chemotherapy in epithelial ovarian cancers.

Author: Jazaeri, Amir, Awtrey, Christopher S, Chandramouli, Gadisetti V R, Chuang, Yao Eric, Khan, Javed, Sotiriou, Christos, Aprelikova, Olga, Yee, Cindy J, Zorn, Kristin K, Birrer, Michael J, Barrett, J Carl, Boyd, Jeff, Jazaeri, Amir, Awtrey, Christopher S, Chandramouli, Gadisetti V R, Chuang, Yao Eric, Khan, Javed, Sotiriou, Christos, Aprelikova, Olga, Yee, Cindy J, Zorn, Kristin K, Birrer, Michael J, Barrett, J Carl, and Boyd, Jeff
Abstract: PURPOSE: The goal of this study was to determine whether distinct gene expression profiles are associated with intrinsic and/or acquired chemoresistance in epithelial ovarian carcinoma. EXPERIMENTAL DESIGN: Gene expression profiles were generated from 21 primary chemosensitive tumors and 24 primary chemo-resistant tumors using cDNA-based microarrays. Gene expression profiles of both groups of primary tumors were then compared with those of 15 ovarian carcinomas obtained following platinum-based chemotherapy ("post-chemotherapy" tumors). A theme discovery tool was used to identify functional categories of genes involved in drug resistance. RESULTS: Comparison of primary chemosensitive and chemo-resistant tumors revealed differential expression of 85 genes (P < 0.001). Comparison of gene expression profiles of primary chemosensitive tumors and post-chemotherapy tumors revealed more robust differences with 760 genes differentiating the two groups (P < 0.001). In contrast, only 230 genes were differentially expressed between primary chemo-resistant and post-chemotherapy groups (P < 0.001). Common to both gene lists were 178 genes representing transcripts differentially expressed between post-chemotherapy tumors and all primary tumors irrespective of intrinsic chemosensitivity. The gene expression profile of post-chemotherapy tumors compared with that of primary tumors revealed statistically significant overrepresentation of genes encoding extracellular matrix-related proteins. CONCLUSIONS: These data show that gene expression profiling can discriminate primary chemo-resistant from primary chemosensitive ovarian cancers. Gene expression profiles were also identified that correlate with states of intrinsic and acquired chemoresistance and that represent targets for future investigation and potential therapeutic interventions., Comparative Study, Journal Article, Research Support, N.I.H. Extramural, Research Support, U.S. Gov't, P.H.S., info:eu-repo/semantics/published
Published: 2005

11. Gene expression profiles associated with response to chemotherapy in epithelial ovarian cancers.

Author: Jazaeri, Amir, Awtrey, Christopher S, Chandramouli, Gadisetti V R, Chuang, Yao Eric, Khan, Javed, Sotiriou, Christos, Aprelikova, Olga, Yee, Cindy J, Zorn, Kristin K, Birrer, Michael J, Barrett, J Carl, Boyd, Jeff, Jazaeri, Amir, Awtrey, Christopher S, Chandramouli, Gadisetti V R, Chuang, Yao Eric, Khan, Javed, Sotiriou, Christos, Aprelikova, Olga, Yee, Cindy J, Zorn, Kristin K, Birrer, Michael J, Barrett, J Carl, and Boyd, Jeff
Abstract: PURPOSE: The goal of this study was to determine whether distinct gene expression profiles are associated with intrinsic and/or acquired chemoresistance in epithelial ovarian carcinoma. EXPERIMENTAL DESIGN: Gene expression profiles were generated from 21 primary chemosensitive tumors and 24 primary chemo-resistant tumors using cDNA-based microarrays. Gene expression profiles of both groups of primary tumors were then compared with those of 15 ovarian carcinomas obtained following platinum-based chemotherapy ("post-chemotherapy" tumors). A theme discovery tool was used to identify functional categories of genes involved in drug resistance. RESULTS: Comparison of primary chemosensitive and chemo-resistant tumors revealed differential expression of 85 genes (P < 0.001). Comparison of gene expression profiles of primary chemosensitive tumors and post-chemotherapy tumors revealed more robust differences with 760 genes differentiating the two groups (P < 0.001). In contrast, only 230 genes were differentially expressed between primary chemo-resistant and post-chemotherapy groups (P < 0.001). Common to both gene lists were 178 genes representing transcripts differentially expressed between post-chemotherapy tumors and all primary tumors irrespective of intrinsic chemosensitivity. The gene expression profile of post-chemotherapy tumors compared with that of primary tumors revealed statistically significant overrepresentation of genes encoding extracellular matrix-related proteins. CONCLUSIONS: These data show that gene expression profiling can discriminate primary chemo-resistant from primary chemosensitive ovarian cancers. Gene expression profiles were also identified that correlate with states of intrinsic and acquired chemoresistance and that represent targets for future investigation and potential therapeutic interventions., Comparative Study, Journal Article, Research Support, N.I.H. Extramural, Research Support, U.S. Gov't, P.H.S., info:eu-repo/semantics/published
Published: 2005

12. BRCA1-mediated repression of select X chromosome genes.

Author: Jazaeri, Amir, Chandramouli, G V R, Aprelikova, Olga, Nuber, Ulrike A, Sotiriou, Christos, Liu, Edison Tak-Bun, Ropers, H Hilger, Yee, Cindy J, Boyd, Jeff, Barrett, J Carl, Jazaeri, Amir, Chandramouli, G V R, Aprelikova, Olga, Nuber, Ulrike A, Sotiriou, Christos, Liu, Edison Tak-Bun, Ropers, H Hilger, Yee, Cindy J, Boyd, Jeff, and Barrett, J Carl
Abstract: Recently BRCA1 has been implicated in the regulation of gene expression from the X chromosome. In this study the influence of BRCA1 on expression of X chromosome genes was investigated. Complementary DNA microarrays were used to compare the expression levels of X chromosome genes in 18 BRCA1-associated ovarian cancers to those of the 13 "BRCA1-like" and 14 "BRCA2-like" sporadic tumors (as defined by previously reported expression profiling). Significance was determined using parametric statistics with P < 0.005 as a cutoff. Forty of 178 total X-chromosome transcripts were differentially expressed between the BRCA1-associated tumors and sporadic cancers with a BRCA2-like molecular profile. Thirty of these 40 genes showed higher mean expression in the BRCA1-associated samples including all 11 transcripts that mapped to Xp11. In contrast, four of 178 total X chromosome transcripts showed significant differential expression between BRCA1-associated and sporadic tumors with a BRCA1-like molecular profile. All four mapped to Xp11 and showed higher mean expression in BRCA1-associated tumors. Re-expression of BRCA1 in HCC1937 BRCA1-deficient breast cancer cell resulted in the repression of 21 transcripts. Eleven of the 21 (54.5%) transcripts mapped to Xp11. However, there was no significant overlap between these Xp11 genes and those found to be differentially expressed between BRCA1-associated and sporadic ovarian cancer samples. These results demonstrate that BRCA1 mediates the repression of several X chromosome genes, many of which map to the Xp11 locus., JOURNAL ARTICLE, info:eu-repo/semantics/published
Published: 2004

13. BRCA1-mediated repression of select X chromosome genes.

Author: Jazaeri, Amir, Chandramouli, G V R, Aprelikova, Olga, Nuber, Ulrike A, Sotiriou, Christos, Liu, Edison Tak-Bun, Ropers, H Hilger, Yee, Cindy J, Boyd, Jeff, Barrett, J Carl, Jazaeri, Amir, Chandramouli, G V R, Aprelikova, Olga, Nuber, Ulrike A, Sotiriou, Christos, Liu, Edison Tak-Bun, Ropers, H Hilger, Yee, Cindy J, Boyd, Jeff, and Barrett, J Carl
Abstract: Recently BRCA1 has been implicated in the regulation of gene expression from the X chromosome. In this study the influence of BRCA1 on expression of X chromosome genes was investigated. Complementary DNA microarrays were used to compare the expression levels of X chromosome genes in 18 BRCA1-associated ovarian cancers to those of the 13 "BRCA1-like" and 14 "BRCA2-like" sporadic tumors (as defined by previously reported expression profiling). Significance was determined using parametric statistics with P < 0.005 as a cutoff. Forty of 178 total X-chromosome transcripts were differentially expressed between the BRCA1-associated tumors and sporadic cancers with a BRCA2-like molecular profile. Thirty of these 40 genes showed higher mean expression in the BRCA1-associated samples including all 11 transcripts that mapped to Xp11. In contrast, four of 178 total X chromosome transcripts showed significant differential expression between BRCA1-associated and sporadic tumors with a BRCA1-like molecular profile. All four mapped to Xp11 and showed higher mean expression in BRCA1-associated tumors. Re-expression of BRCA1 in HCC1937 BRCA1-deficient breast cancer cell resulted in the repression of 21 transcripts. Eleven of the 21 (54.5%) transcripts mapped to Xp11. However, there was no significant overlap between these Xp11 genes and those found to be differentially expressed between BRCA1-associated and sporadic ovarian cancer samples. These results demonstrate that BRCA1 mediates the repression of several X chromosome genes, many of which map to the Xp11 locus., JOURNAL ARTICLE, info:eu-repo/semantics/published
Published: 2004

14. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers.

Author: Jazaeri, Amir, Yee, Cindy J, Sotiriou, Christos, Brantley, Kelly R, Boyd, Jeff, Liu, Edison Tak-Bun, Jazaeri, Amir, Yee, Cindy J, Sotiriou, Christos, Brantley, Kelly R, Boyd, Jeff, and Liu, Edison Tak-Bun
Abstract: BACKGROUND: Germline mutations in BRCA1 and BRCA2 are responsible for 5%-10% of epithelial ovarian cancers, but the molecular pathways affected by these mutations are unknown. We used complementary DNA (cDNA) microarrays to compare gene expression patterns in ovarian cancers associated with BRCA1 or BRCA2 mutations with gene expression patterns in sporadic epithelial ovarian cancers and to identify patterns common to both hereditary and sporadic tumors. METHODS: Tumor samples from 61 patients with pathologically confirmed epithelial ovarian adenocarcinoma with matched clinicopathologic features were studied, including 18 with BRCA1 founder mutations, 16 with BRCA2 founder mutations, and 27 without either founder mutation (termed sporadic cancers). The cDNA microarrays contained 7651 sequence-verified features. Gene expression data were analyzed with a modified two-sided F test, with P<.0001 considered statistically significant. The expression level of six genes was also studied with reverse transcription-polymerase chain reaction. RESULTS: The greatest contrast in gene expression was observed between tumors with BRCA1 mutations and those with BRCA2 mutations; 110 genes showed statistically significantly different expression levels (P<.0001). This group of genes could segregate sporadic tumors into two subgroups, "BRCA1-like" and "BRCA2-like," suggesting that BRCA1-related and BRCA2-related pathways are also involved in sporadic ovarian cancers. Fifty-three genes were differentially expressed between tumors with BRCA1 mutations and sporadic tumors; six of the 53 mapped to Xp11.23 and were expressed at higher levels in tumors with BRCA1 mutations than in sporadic tumors. Compared with the immortalized ovarian surface epithelial cells used as reference, several interferon-inducible genes were overexpressed in the majority of tumors with a BRCA mutation and in sporadic tumors. CONCLUSIONS: Mutations in BRCA1 and BRCA2 may lead to carcinogenesis through distinct molecula, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., info:eu-repo/semantics/published
Published: 2002

15. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers.

Author: Jazaeri, Amir, Yee, Cindy J, Sotiriou, Christos, Brantley, Kelly R, Boyd, Jeff, Liu, Edison Tak-Bun, Jazaeri, Amir, Yee, Cindy J, Sotiriou, Christos, Brantley, Kelly R, Boyd, Jeff, and Liu, Edison Tak-Bun
Abstract: BACKGROUND: Germline mutations in BRCA1 and BRCA2 are responsible for 5%-10% of epithelial ovarian cancers, but the molecular pathways affected by these mutations are unknown. We used complementary DNA (cDNA) microarrays to compare gene expression patterns in ovarian cancers associated with BRCA1 or BRCA2 mutations with gene expression patterns in sporadic epithelial ovarian cancers and to identify patterns common to both hereditary and sporadic tumors. METHODS: Tumor samples from 61 patients with pathologically confirmed epithelial ovarian adenocarcinoma with matched clinicopathologic features were studied, including 18 with BRCA1 founder mutations, 16 with BRCA2 founder mutations, and 27 without either founder mutation (termed sporadic cancers). The cDNA microarrays contained 7651 sequence-verified features. Gene expression data were analyzed with a modified two-sided F test, with P<.0001 considered statistically significant. The expression level of six genes was also studied with reverse transcription-polymerase chain reaction. RESULTS: The greatest contrast in gene expression was observed between tumors with BRCA1 mutations and those with BRCA2 mutations; 110 genes showed statistically significantly different expression levels (P<.0001). This group of genes could segregate sporadic tumors into two subgroups, "BRCA1-like" and "BRCA2-like," suggesting that BRCA1-related and BRCA2-related pathways are also involved in sporadic ovarian cancers. Fifty-three genes were differentially expressed between tumors with BRCA1 mutations and sporadic tumors; six of the 53 mapped to Xp11.23 and were expressed at higher levels in tumors with BRCA1 mutations than in sporadic tumors. Compared with the immortalized ovarian surface epithelial cells used as reference, several interferon-inducible genes were overexpressed in the majority of tumors with a BRCA mutation and in sporadic tumors. CONCLUSIONS: Mutations in BRCA1 and BRCA2 may lead to carcinogenesis through distinct molecula, Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S., info:eu-repo/semantics/published
Published: 2002

16. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study

Author: Neuhausen, Susan S.L., Cannon-Albright, Lisa, Godwin, Andrew A.K., Weber, Barbara, Gershoni-Baruch, Ruth, Schubert, Elizabeth, King, Mary M.D., Garber, Judy, Stoppa-Lyonnet, Dominique, Olah, Edith, Csokay, Bela, Serova, Olga, Lalloo, Fiona, Goldgar, David, Osorio, Ana, Benitez, Javier, Stratton, Michael, Offit, Kenneth, Boyd, Jeff, Caligo, Maria Adelaide, Scott, R.J. R.J., Schofield, Andy, Teugels, Erik, Schwab, Manfred, Bishop, Timothy, Easton, Douglas, Ponder, Bruce, Devilee, Peter, Borg, Åke A., Narod, Steven Alexander, Neuhausen, Susan S.L., Cannon-Albright, Lisa, Godwin, Andrew A.K., Weber, Barbara, Gershoni-Baruch, Ruth, Schubert, Elizabeth, King, Mary M.D., Garber, Judy, Stoppa-Lyonnet, Dominique, Olah, Edith, Csokay, Bela, Serova, Olga, Lalloo, Fiona, Goldgar, David, Osorio, Ana, Benitez, Javier, Stratton, Michael, Offit, Kenneth, Boyd, Jeff, Caligo, Maria Adelaide, Scott, R.J. R.J., Schofield, Andy, Teugels, Erik, Schwab, Manfred, Bishop, Timothy, Easton, Douglas, Ponder, Bruce, Devilee, Peter, Borg, Åke A., and Narod, Steven Alexander
Abstract: Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due to BRCA2, we constructed a haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCA2 mutations. Six of the individual mutations are estimated to have arisen 400-2,000 years ago. In particular, the 6174delT mutation, found in ~1% of individuals of Ashkenazi Jewish ancestry, was estimated to have arisen 29 generations ago (1-LOD support interval 22-38). This is substantially more recent than the estimated age of the BRCA1 185delAG mutation (46 generations), derived from our analogous study of BRCA1 mutations. In general, there was no evidence of multiple origins of identical BRCA2 muta- tions. Our study data were consistent with the previous report of a higher incidence of ovarian cancer in families with mutations in a 3.3-kb region of exon 11 (the ovarian cancer cluster region [OCCR]) (P = .10); but that higher incidence was not statistically significant. There was significant evidence that age at diagnosis of breast cancer varied by mutation (P < .001), although only 8% of the variance in age at diagnosis could be explained by the specific mutation, and there was no evidence of family-specific effects. When the age at diagnosis of the breast cancer cases was examined by OCCR, cases associated with mutations in the OCCR had a significantly older mean age at diagnosis than was seen in those outside this region (48 years vs. 42 years; P = .0005)., SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 1998

17. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study

Author: Neuhausen, Susan S.L., Cannon-Albright, Lisa, Godwin, Andrew A.K., Weber, Barbara, Gershoni-Baruch, Ruth, Schubert, Elizabeth, King, Mary M.D., Garber, Judy, Stoppa-Lyonnet, Dominique, Olah, Edith, Csokay, Bela, Serova, Olga, Lalloo, Fiona, Goldgar, David, Osorio, Ana, Benitez, Javier, Stratton, Michael, Offit, Kenneth, Boyd, Jeff, Caligo, Maria Adelaide, Scott, R.J. R.J., Schofield, Andy, Teugels, Erik, Schwab, Manfred, Bishop, Timothy, Easton, Douglas, Ponder, Bruce, Devilee, Peter, Borg, Åke A., Narod, Steven Alexander, Neuhausen, Susan S.L., Cannon-Albright, Lisa, Godwin, Andrew A.K., Weber, Barbara, Gershoni-Baruch, Ruth, Schubert, Elizabeth, King, Mary M.D., Garber, Judy, Stoppa-Lyonnet, Dominique, Olah, Edith, Csokay, Bela, Serova, Olga, Lalloo, Fiona, Goldgar, David, Osorio, Ana, Benitez, Javier, Stratton, Michael, Offit, Kenneth, Boyd, Jeff, Caligo, Maria Adelaide, Scott, R.J. R.J., Schofield, Andy, Teugels, Erik, Schwab, Manfred, Bishop, Timothy, Easton, Douglas, Ponder, Bruce, Devilee, Peter, Borg, Åke A., and Narod, Steven Alexander
Abstract: Several BRCA2 mutations are found to occur in geographically diverse breast and ovarian cancer families. To investigate both mutation origin and mutation-specific phenotypes due to BRCA2, we constructed a haplotype of 10 polymorphic short tandem-repeat (STR) markers flanking the BRCA2 locus, in a set of 111 breast or breast/ovarian cancer families selected for having one of nine recurrent BRCA2 mutations. Six of the individual mutations are estimated to have arisen 400-2,000 years ago. In particular, the 6174delT mutation, found in ~1% of individuals of Ashkenazi Jewish ancestry, was estimated to have arisen 29 generations ago (1-LOD support interval 22-38). This is substantially more recent than the estimated age of the BRCA1 185delAG mutation (46 generations), derived from our analogous study of BRCA1 mutations. In general, there was no evidence of multiple origins of identical BRCA2 muta- tions. Our study data were consistent with the previous report of a higher incidence of ovarian cancer in families with mutations in a 3.3-kb region of exon 11 (the ovarian cancer cluster region [OCCR]) (P = .10); but that higher incidence was not statistically significant. There was significant evidence that age at diagnosis of breast cancer varied by mutation (P < .001), although only 8% of the variance in age at diagnosis could be explained by the specific mutation, and there was no evidence of family-specific effects. When the age at diagnosis of the breast cancer cases was examined by OCCR, cases associated with mutations in the OCCR had a significantly older mean age at diagnosis than was seen in those outside this region (48 years vs. 42 years; P = .0005)., SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 1998

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17 results on '"Boyd, Jeff"'

1. Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

2. Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

3. Comprehensive molecular profiling of lung adenocarcinoma

4. Comprehensive molecular profiling of lung adenocarcinoma

5. Comprehensive genomic characterization of squamous cell lung cancers

6. Comprehensive genomic characterization of squamous cell lung cancers

7. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping.

8. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping.

9. Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management

10. Gene expression profiles associated with response to chemotherapy in epithelial ovarian cancers.

11. Gene expression profiles associated with response to chemotherapy in epithelial ovarian cancers.

12. BRCA1-mediated repression of select X chromosome genes.

13. BRCA1-mediated repression of select X chromosome genes.

14. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers.

15. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers.

16. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study

17. Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study

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