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Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer

2014; Oxford University Press; Volume: 16; Issue: 10 Linguagem: Inglês

10.1093/neuonc/nou052

1523-5866

Ulrika Andersson, Carl Wibom, K. Cederquist, S. Aradottir, Åke Borg, Georgina Armstrong, Sanjay Shete, Ching C. Lau, Matthew N. Bainbridge, Elizabeth B. Claus, Jill S. Barnholtz‐Sloan, Raymond Lai, D. Il'yasova, Richard S. Houlston, Joellen M. Schildkraut, Jonine L. Bernstein, Sara H. Olson, Robert B. Jenkins, Daniel H. Lachance, Margaret Wrensch, Faith G. Davis, Ryan Merrell, Christoffer Johansen, Siegal Sadetzki, Melissa L. Bondy, Beatrice Melin, Phyllis Adatto, F. Morice, Sandra Payen, Lacey McQuinn, Rebecca McGaha, S. Guerra, L. Paith, Katherine G. Roth, Dong Zeng, Hua Zhang, Alfred Yung, Ken Aldape, Mark R. Gilbert, James M. Weinberger, Howard Colman, C. Conrad, John de Groot, Axel Forman, Morris D. Groves, Victor A. Levin, Monica Loghin, Vinay K. Puduvalli, Raymond Sawaya, Amy B. Heimberger, F. Lang, Nicholas B. Levine, Lorna Tolentino, Katherine C. Saunders, Tine Thach, Donatella Iacono, Anthony Sloan, Stanton L. Gerson, Warren R. Selman, Nicholas C. Bambakidis, Daniel Hart, Jacob A. Miller, Alan Hoffer, Mark L. Cohen, Lisa R. Rogers, C. J. Nock, Yingli Wolinsky, Karen Devine, Jordonna Fulop, William Barrett, Kristen Shimmel, Quinn T. Ostrom, Gene H. Barnett, S. Rosenfeld, Michael A. Vogelbaum, Richard Weil, Manmeet S. Ahluwalia, D. Peereboom, Susan M. Staugaitis, Cathy Schilero, Cathy Brewer, Kathy Smolenski, M. McGraw, Theresa Naska, S. Rosenfeld, Zvi Ram, Deborah T. Blumenthal, Felix Bokstein, Félix Umansky, Menashe Zaaroor, Andrea J. Cohen, Tzahala Tzuk-Shina, B. Voldby, Rasmus Laursen, Christen Lykkegaard Andersen, Jannick Brennum, Marius Henriksen, M Marzouk, Mary E. Davis, Elizabeth A. Boland, Michael J. Smith, Ogechukwu Eze, Michael Way, Paul Eduardo Lada, N. Miedzianowski, M. Frechette, Nina A. Paleologos, G. Bystrom, Erika Svedberg, S. Huggert, Mikael Kimdal, Maria Sandström, Niklas Brännström, Atta‐ur Rahman, Tarık Tihan, Sarah Zheng, Michael Berger, Nicholas Butowski, Susan M. Chang, Jennifer Clarke, Michael D. Prados, Terri Rice, Julian Sison, Valerie Kivett, X. Duo, Helen Hansen, George Hsuang, R A Lamela, Christian G. Ramos, Joseph Patoka, K. Wagenman, Mi Zhou, Alison P. Klein, Nathan R. McGee, Jon Pfefferle, Charmaine D. Wilson, Patrick G. Morris, Mark Hughes, M. Britt-Williams, Jessica Foft, Jacob Madsen, C. Polony, Bridget J. McCarthy, C. Zahora, John L. Villano, Herbert H. Engelhard, Åke Borg, S. K. Chanock, Peter Collins, Robert C. Elston, Paul Kleihues, Carol Kruchko, Gloria Petersen, Sharon E. Plon, Patrick Thompson, Christoffer Johansen, Siegal Sadetzki, Beatrice Melin, Melissa L. Bondy, Ching C. Lau, Michael E. Scheurer, Georgina Armstrong, Ying Liu, Sanjay Shete, Robert Yu, Ken Aldape, Mark R. Gilbert, Jeffrey S. Weinberg, Richard S. Houlston, Fay J. Hosking, Lindsay B. Robertson, Elli Papaemmanuil, Elizabeth B. Claus, Elizabeth B. Claus, Jill S. Barnholtz‐Sloan, A. E. Sloan, Gene H. Barnett, Karen Devine, Yingli Wolinsky, Raymond Lai, Roberta McKean‐Cowdin, D. Il'yasova, Joellen M. Schildkraut, Siegal Sadetzki, Galit Hirsh Yechezkel, Revital Bruchim, L. A. Aslanov, Siegal Sadetzki, Christoffer Johansen, Michael Kosteljanetz, Helle Broholm, Jonine L. Bernstein, Sara H. Olson, Erin K. Schubert, Lisa M. DeAngelis, Robert B. Jenkins, Peter Yang, Amanda L. Rynearson, Ulrika Andersson, Carl Wibom, Roger Henriksson, Beatrice Melin, K. Cederquist, S. Aradottir, Åke Borg, Ryan Merrell, Paul Eduardo Lada, Margaret Wrensch, John Wiencke, Joseph L. Wiemels, Lucie McCoy, Bridget J. McCarthy, Faith G. Davis,

Glioma Diagnosis and Treatment

Although familial susceptibility to glioma is known, the genetic basis for this susceptibility remains unidentified in the majority of glioma-specific families. An alternative approach to identifying such genes is to examine cancer pedigrees, which include glioma as one of several cancer phenotypes, to determine whether common chromosomal modifications might account for the familial aggregation of glioma and other cancers. Germline rearrangements in 146 glioma families (from the Gliogene Consortium; http://www.gliogene.org/) were examined using multiplex ligation-dependent probe amplification. These families all had at least 2 verified glioma cases and a third reported or verified glioma case in the same family or 2 glioma cases in the family with at least one family member affected with melanoma, colon, or breast cancer.The genomic areas covering TP53, CDKN2A, MLH1, and MSH2 were selected because these genes have been previously reported to be associated with cancer pedigrees known to include glioma. We detected a single structural rearrangement, a deletion of exons 1-6 in MSH2, in the proband of one family with 3 cases with glioma and one relative with colon cancer. Large deletions and duplications are rare events in familial glioma cases, even in families with a strong family history of cancers that may be involved in known cancer syndromes.