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 Brian Jenkins, Daniel H Lachance, Margaret WrenschFaith G. Davis, Ryan Merrell, Christoffer Johansen, Siegal Sadetzki, Melissa L. Bondy, Gloria M Petersen

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1333-1340
Number of pages8
JournalNeuro-Oncology
Volume16
Issue number10
DOIs
StatePublished - 2014

Fingerprint

Glioma
Colonic Neoplasms
Melanoma
Breast Neoplasms
Neoplasms
Pedigree
Multiplex Polymerase Chain Reaction
Genetic Predisposition to Disease
Genes
Exons
Phenotype

Keywords

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

ASJC Scopus subject areas

  • Cancer Research
  • Oncology
  • Clinical Neurology

Cite this

Germline rearrangements in families with strong family history of glioma and malignant melanoma colon, and breast cancer. / Andersson, Ulrika; Wibom, Carl; Cederquist, Kristina; Aradottir, Steina; Borg, Åke; Armstrong, Georgina N.; Shete, Sanjay; Lau, Ching C.; Bainbridge, Matthew N.; Claus, Elizabeth B.; Barnholtz-Sloan, Jill; Lai, Rose; Il'yasova, Dora; Houlston, Richard S.; Schildkraut, Joellen; Bernstein, Jonine L.; Olson, Sara H.; Jenkins, Robert Brian; Lachance, Daniel H; Wrensch, Margaret; Davis, Faith G.; Merrell, Ryan; Johansen, Christoffer; Sadetzki, Siegal; Bondy, Melissa L.; Petersen, Gloria M.

In: Neuro-Oncology, Vol. 16, No. 10, 2014, p. 1333-1340.

Research output: Contribution to journalArticle

Andersson, U, Wibom, C, Cederquist, K, Aradottir, S, Borg, Å, Armstrong, GN, Shete, S, Lau, CC, Bainbridge, MN, Claus, EB, Barnholtz-Sloan, J, Lai, R, Il'yasova, D, Houlston, RS, Schildkraut, J, Bernstein, JL, Olson, SH, Jenkins, RB, Lachance, DH, Wrensch, M, Davis, FG, Merrell, R, Johansen, C, Sadetzki, S, Bondy, ML & Petersen, GM 2014, 'Germline rearrangements in families with strong family history of glioma and malignant melanoma colon, and breast cancer', Neuro-Oncology, vol. 16, no. 10, pp. 1333-1340. https://doi.org/10.1093/neuonc/nou052
Andersson, Ulrika ; Wibom, Carl ; Cederquist, Kristina ; Aradottir, Steina ; Borg, Åke ; Armstrong, Georgina N. ; Shete, Sanjay ; Lau, Ching C. ; Bainbridge, Matthew N. ; Claus, Elizabeth B. ; Barnholtz-Sloan, Jill ; Lai, Rose ; Il'yasova, Dora ; Houlston, Richard S. ; Schildkraut, Joellen ; Bernstein, Jonine L. ; Olson, Sara H. ; Jenkins, Robert Brian ; Lachance, Daniel H ; Wrensch, Margaret ; Davis, Faith G. ; Merrell, Ryan ; Johansen, Christoffer ; Sadetzki, Siegal ; Bondy, Melissa L. ; Petersen, Gloria M. / Germline rearrangements in families with strong family history of glioma and malignant melanoma colon, and breast cancer. In: Neuro-Oncology. 2014 ; Vol. 16, No. 10. pp. 1333-1340.
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abstract = "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.",
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T1 - Germline rearrangements in families with strong family history of glioma and malignant melanoma colon, and breast cancer

AU - Andersson, Ulrika

AU - Wibom, Carl

AU - Cederquist, Kristina

AU - Aradottir, Steina

AU - Borg, Åke

AU - Armstrong, Georgina N.

AU - Shete, Sanjay

AU - Lau, Ching C.

AU - Bainbridge, Matthew N.

AU - Claus, Elizabeth B.

AU - Barnholtz-Sloan, Jill

AU - Lai, Rose

AU - Il'yasova, Dora

AU - Houlston, Richard S.

AU - Schildkraut, Joellen

AU - Bernstein, Jonine L.

AU - Olson, Sara H.

AU - Jenkins, Robert Brian

AU - Lachance, Daniel H

AU - Wrensch, Margaret

AU - Davis, Faith G.

AU - Merrell, Ryan

AU - Johansen, Christoffer

AU - Sadetzki, Siegal

AU - Bondy, Melissa L.

AU - Petersen, Gloria M

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

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KW - MSH2

KW - TP53

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