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Germline rearrangem...
Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer
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- Andersson, Ulrika (author)
- Umeå universitet,Onkologi
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- Wibom, Carl (author)
- Umeå universitet,Onkologi,Computational Life science Cluster (CLiC)
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- Cederquist, Kristina (author)
- Umeå universitet,Patologi
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- Aradottir, Steina (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Borg, Åke (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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Armstrong, Georgina N. (author)
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- Melin, Beatrice S (author)
- Umeå universitet,Onkologi
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Lau, Ching C. (author)
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Bainbridge, Matthew N. (author)
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Claus, Elizabeth B. (author)
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Barnholtz-Sloan, Jill (author)
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Lai, Rose (author)
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Il'yasova, Dora (author)
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Houlston, Richard S. (author)
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Schildkraut, Joellen (author)
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Bernstein, Jonine L. (author)
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Olson, Sara H. (author)
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Jenkins, Robert B. (author)
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Lachance, Daniel H. (author)
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Wrensch, Margaret (author)
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Davis, Faith G. (author)
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Merrell, Ryan (author)
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Johansen, Christoffer (author)
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Sadetzki, Siegal (author)
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Bondy, Melissa L. (author)
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- Melin, Beatrice S (author)
- Umeå universitet,Onkologi
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(creator_code:org_t)
- 2014-04-09
- 2014
- English.
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In: Neuro-Oncology. - : Oxford University Press. - 1522-8517 .- 1523-5866. ; 16:10, s. 1333-1340
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https://umu.diva-por... (primary) (Raw object)
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https://academic.oup...
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http://www.ncbi.nlm....
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- CDKN2A/B
- family history
- glioma
- MLH1
- MSH2
- TP53
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Andersson, Ulrik ...
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Wibom, Carl
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Cederquist, Kris ...
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Aradottir, Stein ...
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Borg, Åke
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Armstrong, Georg ...
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show more...
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Melin, Beatrice ...
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Lau, Ching C.
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Bainbridge, Matt ...
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Claus, Elizabeth ...
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Barnholtz-Sloan, ...
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Lai, Rose
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Il'yasova, Dora
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Houlston, Richar ...
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Schildkraut, Joe ...
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Bernstein, Jonin ...
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Olson, Sara H.
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Jenkins, Robert ...
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Lachance, Daniel ...
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Wrensch, Margare ...
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Davis, Faith G.
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Merrell, Ryan
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Johansen, Christ ...
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Sadetzki, Siegal
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Bondy, Melissa L ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Neuro-Oncology
- By the university
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Umeå University
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Lund University