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Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer
Umeå University, Faculty of Medicine, Department of Radiation Sciences, Oncology.
Umeå University, Faculty of Medicine, Department of Radiation Sciences, Oncology. (Computational Life science Cluster (CLiC))
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Pathology.
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2014 (English)In: Neuro-Oncology, ISSN 1522-8517, E-ISSN 1523-5866, Vol. 16, no 10, 1333-1340 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Oxford University Press, 2014. Vol. 16, no 10, 1333-1340 p.
Keyword [en]
CDKN2A/B, family history, glioma, MLH1, MSH2, TP53
National Category
Cancer and Oncology Neurology
URN: urn:nbn:se:umu:diva-96514DOI: 10.1093/neuonc/nou052ISI: 000343671000005OAI: diva2:765420
11th Congress of the European-Association-of-Neuro-Oncology, Turin, ITALY, OCT 09-12, 2014

Meeting Abstract: P04.02 published in the same journal, Vol. 16, Suppl. 2.

Available from: 2014-11-23 Created: 2014-11-21 Last updated: 2014-12-09Bibliographically approved

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Andersson, UlrikaWibom, CarlCederquist, KristinaMelin, Beatrice S
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