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 Wrensch; Faith 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; Andrew Edward 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; M. R. Gilbert; J. Weinberg; F. J. Hosking; L. Robertson; E. Papaemmanuil; 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

doi:10.1093/neuonc/nou052

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, Andrew Edward 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, M. R. Gilbert, J. Weinberg, F. J. Hosking, L. Robertson, E. Papaemmanuil, 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

School of Medicine

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

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 language	English (US)
Pages (from-to)	1333-1340
Number of pages	8
Journal	Neuro-oncology
Volume	16
Issue number	10
DOIs	https://doi.org/10.1093/neuonc/nou052
State	Published - Oct 1 2014

Keywords

CDKN2A/B
Family history
Glioma
MLH1
MSH2
TP53

ASJC Scopus subject areas

Oncology
Clinical Neurology
Cancer Research

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10.1093/neuonc/nou052

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Andersson, U., Wibom, C., Cederquist, K., Aradottir, S., Borg, Å., Armstrong, G. N., Shete, S., Lau, C. C., Bainbridge, M. N., Claus, E. B., Barnholtz-Sloan, J., Lai, R., Il'yasova, D., Houlston, R. S., Schildkraut, J., Bernstein, J. L., Olson, S. H., Jenkins, R. B., Lachance, D. H., ... McCarthy, B. J. (2014). Germline rearrangements in families with strong family history of glioma and malignant melanoma colon, and breast cancer. Neuro-oncology, 16(10), 1333-1340. https://doi.org/10.1093/neuonc/nou052

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, Melin, BS, Adatto, P, Morice, F, Payen, S, McQuinn, L, McGaha, R, Guerra, S, Paith, L, Roth, K, Zeng, D, Zhang, H, Yung, A, Aldape, K, Gilbert, M, Weinberger, J, Colman, H, Conrad, C, de Groot, J, Forman, A, Groves, M, Levin, V, Loghin, M, Puduvalli, V, Sawaya, R, Heimberger, A, Lang, F, Levine, N, Tolentino, L, Saunders, K, Thach, TT, Iacono, DD, Sloan, AE, Gerson, S, Selman, W, Bambakidis, N, Hart, D, Miller, J, Hoffer, A, Cohen, M, Rogers, L, Nock, CJ, Wolinsky, Y, Devine, K, Fulop, J, Barrett, W, Shimmel, K, Ostrom, Q, Barnett, G, Rosenfeld, S, Vogelbaum, M, Weil, R, Ahluwalia, M, Peereboom, D, Staugaitis, S, Schilero, C, Brewer, C, Smolenski, K, McGraw, M, Naska, T, Ram, Z, Blumenthal, DT, Bokstein, F, Umansky, F, Zaaroor, M, Cohen, A, Tzuk-Shina, T, Voldby, B, Laursen, R, Andersen, C, Brennum, J, Henriksen, MB, Marzouk, M, Davis, ME, Boland, E, Smith, M, Eze, O, Way, M, Lada, P, Miedzianowski, N, Frechette, M, Paleologos, N, Byström, G, Svedberg, E, Huggert, S, Kimdal, M, Sandström, M, Brännström, N, Hayat, A, Tihan, T, Zheng, S, Berger, M, Butowski, N, Chang, S, Clarke, J, Prados, M, Rice, T, Sison, J, Kivett, V, Duo, X, Hansen, H, Hsuang, G, Lamela, R, Ramos, C, Patoka, J, Wagenman, K, Zhou, M, Klein, A, McGee, N, Pfefferle, J, Wilson, C, Morris, P, Hughes, M, Britt-Williams, M, Foft, J, Madsen, J, Polony, C, McCarthy, B, Zahora, C, Villano, J, Engelhard, H, Chanock, SK, Collins, P, Elston, R, Kleihues, P, Kruchko, C, Petersen, G, Plon, S, Thompson, P, Scheurer, ME, Liu, Y, Yu, RK, Gilbert, MR, Weinberg, J, Hosking, FJ, Robertson, L, Papaemmanuil, E, McKean-Cowdin, R, Yechezkel, GH, Bruchim, RB, Aslanov, L, Kosteljanetz, M, Broholm, H, Schubert, E, DeAngelis, L, Yang, P, Rynearson, A, Henriksson, R, Wiencke, J, Wiemels, J, McCoy, L & McCarthy, BJ 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

@article{9bff524160284a5f8482288fc3a584ae,

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

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.",

keywords = "CDKN2A/B, Family history, Glioma, MLH1, MSH2, TP53",

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

note = "Publisher Copyright: {\textcopyright} The Author(s) 2014.",

year = "2014",

month = oct,

day = "1",

doi = "10.1093/neuonc/nou052",

language = "English (US)",

volume = "16",

pages = "1333--1340",

journal = "Neuro-oncology",

issn = "1522-8517",

publisher = "Oxford University Press",

number = "10",

}

TY - JOUR

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 B.

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 - Melin, Beatrice S.

AU - Adatto, P.

AU - Morice, F.

AU - Payen, S.

AU - McQuinn, L.

AU - McGaha, R.

AU - Guerra, S.

AU - Paith, L.

AU - Roth, K.

AU - Zeng, D.

AU - Zhang, H.

AU - Yung, A.

AU - Aldape, K.

AU - Gilbert, M.

AU - Weinberger, J.

AU - Colman, H.

AU - Conrad, C.

AU - de Groot, J.

AU - Forman, A.

AU - Groves, M.

AU - Levin, V.

AU - Loghin, M.

AU - Puduvalli, V.

AU - Sawaya, R.

AU - Heimberger, A.

AU - Lang, F.

AU - Levine, N.

AU - Tolentino, L.

AU - Saunders, K.

AU - Thach, T. T.

AU - Iacono, D. D.

AU - Sloan, Andrew Edward

AU - Gerson, S.

AU - Selman, W.

AU - Bambakidis, N.

AU - Hart, D.

AU - Miller, J.

AU - Hoffer, A.

AU - Cohen, M.

AU - Rogers, L.

AU - Nock, C. J.

AU - Wolinsky, Y.

AU - Devine, K.

AU - Fulop, J.

AU - Barrett, W.

AU - Shimmel, K.

AU - Ostrom, Q.

AU - Barnett, G.

AU - Rosenfeld, S.

AU - Vogelbaum, M.

AU - Weil, R.

AU - Ahluwalia, M.

AU - Peereboom, D.

AU - Staugaitis, S.

AU - Schilero, C.

AU - Brewer, C.

AU - Smolenski, K.

AU - McGraw, M.

AU - Naska, T.

AU - Ram, Z.

AU - Blumenthal, D. T.

AU - Bokstein, F.

AU - Umansky, F.

AU - Zaaroor, M.

AU - Cohen, A.

AU - Tzuk-Shina, T.

AU - Voldby, B.

AU - Laursen, R.

AU - Andersen, C.

AU - Brennum, J.

AU - Henriksen, M. B.

AU - Marzouk, M.

AU - Davis, M. E.

AU - Boland, E.

AU - Smith, M.

AU - Eze, O.

AU - Way, M.

AU - Lada, P.

AU - Miedzianowski, N.

AU - Frechette, M.

AU - Paleologos, N.

AU - Byström, G.

AU - Svedberg, E.

AU - Huggert, S.

AU - Kimdal, M.

AU - Sandström, M.

AU - Brännström, N.

AU - Hayat, A.

AU - Tihan, T.

AU - Zheng, S.

AU - Berger, M.

AU - Butowski, N.

AU - Chang, S.

AU - Clarke, J.

AU - Prados, M.

AU - Rice, T.

AU - Sison, J.

AU - Kivett, V.

AU - Duo, X.

AU - Hansen, H.

AU - Hsuang, G.

AU - Lamela, R.

AU - Ramos, C.

AU - Patoka, J.

AU - Wagenman, K.

AU - Zhou, M.

AU - Klein, A.

AU - McGee, N.

AU - Pfefferle, J.

AU - Wilson, C.

AU - Morris, P.

AU - Hughes, M.

AU - Britt-Williams, M.

AU - Foft, J.

AU - Madsen, J.

AU - Polony, C.

AU - McCarthy, B.

AU - Zahora, C.

AU - Villano, J.

AU - Engelhard, H.

AU - Chanock, S. K.

AU - Collins, P.

AU - Elston, R.

AU - Kleihues, P.

AU - Kruchko, C.

AU - Petersen, G.

AU - Plon, S.

AU - Thompson, P.

AU - Scheurer, M. E.

AU - Liu, Y.

AU - Yu, R. K.

AU - Gilbert, M. R.

AU - Weinberg, J.

AU - Hosking, F. J.

AU - Robertson, L.

AU - Papaemmanuil, E.

AU - McKean-Cowdin, R.

AU - Yechezkel, G. H.

AU - Bruchim, R. B.

AU - Aslanov, L.

AU - Kosteljanetz, M.

AU - Broholm, H.

AU - Schubert, E.

AU - DeAngelis, L.

AU - Yang, P.

AU - Rynearson, A.

AU - Henriksson, R.

AU - Wiencke, J.

AU - Wiemels, J.

AU - McCoy, L.

AU - McCarthy, B. J.

PY - 2014/10/1

Y1 - 2014/10/1

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.

KW - CDKN2A/B

KW - Family history

KW - Glioma

KW - MLH1

KW - MSH2

KW - TP53

UR - http://www.scopus.com/inward/record.url?scp=84901614478&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84901614478&partnerID=8YFLogxK

U2 - 10.1093/neuonc/nou052

DO - 10.1093/neuonc/nou052

M3 - Article

C2 - 24723567

AN - SCOPUS:84901614478

SN - 1522-8517

VL - 16

SP - 1333

EP - 1340

JO - Neuro-oncology

JF - Neuro-oncology

IS - 10

ER -

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

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