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

Ulrika Andersson, Carl Wibom, Kristina Cederquist, Steina Aradottir, Åke Borg, Georgina N. Armstrong, Sanjay Shete, Ching C. Lau, Matthew N. Bainbridge, Elizabeth B. Claus, Jill Barnholtz-Sloan, Rose Lai, Dora Il'yasova, Richard S. Houlston, Joellen Schildkraut, Jonine L. Bernstein, Sara H. Olson, Robert B. Jenkins, Daniel H. Lachance, Margaret WrenschFaith G. Davis, Ryan Merrell, Christoffer Johansen, Siegal Sadetzki, Melissa L. Bondy, Beatrice S. Melin, P. Adatto, F. Morice, S. Payen, L. McQuinn, R. McGaha, S. Guerra, L. Paith, K. Roth, D. Zeng, H. Zhang, A. Yung, K. Aldape, M. Gilbert, J. Weinberger, H. Colman, C. Conrad, J. de Groot, A. Forman, M. Groves, V. Levin, M. Loghin, V. Puduvalli, R. Sawaya, A. Heimberger, F. Lang, N. Levine, L. Tolentino, K. Saunders, T. T. Thach, D. D. Iacono, A. Sloan, S. Gerson, W. Selman, N. Bambakidis, D. Hart, J. Miller, A. Hoffer, M. Cohen, L. Rogers, C. J. Nock, Y. Wolinsky, K. Devine, J. Fulop, W. Barrett, K. Shimmel, Q. Ostrom, G. Barnett, S. Rosenfeld, M. Vogelbaum, R. Weil, M. Ahluwalia, D. Peereboom, S. Staugaitis, C. Schilero, C. Brewer, K. Smolenski, M. McGraw, T. Naska, Z. Ram, D. T. Blumenthal, F. Bokstein, F. Umansky, M. Zaaroor, A. Cohen, T. Tzuk-Shina, B. Voldby, R. Laursen, C. Andersen, J. Brennum, M. B. Henriksen, M. Marzouk, M. E. Davis, E. Boland, M. Smith, O. Eze, M. Way, P. Lada, N. Miedzianowski, M. Frechette, N. Paleologos, G. Byström, E. Svedberg, S. Huggert, M. Kimdal, M. Sandström, N. Brännström, A. Hayat, T. Tihan, S. Zheng, M. Berger, N. Butowski, S. Chang, J. Clarke, M. Prados, T. Rice, J. Sison, V. Kivett, X. Duo, H. Hansen, G. Hsuang, R. Lamela, C. Ramos, J. Patoka, K. Wagenman, M. Zhou, A. Klein, N. McGee, J. Pfefferle, C. Wilson, P. Morris, M. Hughes, M. Britt-Williams, J. Foft, J. Madsen, C. Polony, B. McCarthy, C. Zahora, J. Villano, H. Engelhard, S. K. Chanock, P. Collins, R. Elston, P. Kleihues, C. Kruchko, G. Petersen, S. Plon, P. Thompson, M. E. Scheurer, Y. Liu, R. K. Yu, K. D. Aldape, M. R. Gilbert, J. Weinberg, F. J. Hosking, L. Robertson, E. Papaemmanuil, A. E. Sloan, R. McKean-Cowdin, G. H. Yechezkel, R. B. Bruchim, L. Aslanov, M. Kosteljanetz, H. Broholm, E. Schubert, L. DeAngelis, P. Yang, A. Rynearson, R. Henriksson, J. Wiencke, J. Wiemels, L. McCoy, B. J. McCarthy

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Background: 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. Methods: Germline rearrangements in 146 glioma families (from the Gliogene Consortium; 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. Results: 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. Conclusions: 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.

Original languageEnglish
Pages (from-to)1333-1340
Number of pages8
Issue number10
StatePublished - 1 Oct 2014


  • CDKN2A/B
  • Family history
  • Glioma
  • MLH1
  • MSH2
  • TP53

ASJC Scopus subject areas

  • Oncology
  • Clinical Neurology
  • Cancer Research


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