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Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi. (Computational Life science Cluster (CLiC))
Umeå universitet, Medicinska fakulteten, Institutionen för medicinsk biovetenskap, Patologi.
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2014 (Engelska)Ingår i: Neuro-Oncology, ISSN 1522-8517, E-ISSN 1523-5866, Vol. 16, nr 10, s. 1333-1340Artikel i tidskrift (Refereegranskat) 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; 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. 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.

Ort, förlag, år, upplaga, sidor
Oxford University Press, 2014. Vol. 16, nr 10, s. 1333-1340
Nyckelord [en]
CDKN2A/B, family history, glioma, MLH1, MSH2, TP53
Nationell ämneskategori
Cancer och onkologi Neurologi
Identifikatorer
URN: urn:nbn:se:umu:diva-96514DOI: 10.1093/neuonc/nou052ISI: 000343671000005OAI: oai:DiVA.org:umu-96514DiVA, id: diva2:765420
Konferens
11th Congress of the European-Association-of-Neuro-Oncology, Turin, ITALY, OCT 09-12, 2014
Anmärkning

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

Tillgänglig från: 2014-11-23 Skapad: 2014-11-21 Senast uppdaterad: 2018-06-07Bibliografiskt granskad

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Andersson, UlrikaWibom, CarlCederquist, KristinaMelin, Beatrice S

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