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Rearrangement of 8q21

MedGen UID:
271083
•Concept ID:
C1514754
•
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRearrangement of 8q21

Recent clinical studies

Etiology

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D
J Pediatr 2017 Jun;185:160-166.e1. Epub 2017 Mar 8 doi: 10.1016/j.jpeds.2017.02.023. PMID: 28284480
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M
PLoS One 2016;11(12):e0167984. Epub 2016 Dec 9 doi: 10.1371/journal.pone.0167984. PMID: 27936167Free PMC Article
Allelic imbalance at NBS1 is frequent in both proximal and distal colorectal carcinoma.
Uhrhammer N, Bay JO, Gosse-Brun S, Kwiatkowski F, Rio P, Daver A, Bignon YJ
Oncol Rep 2000 Mar-Apr;7(2):427-31. doi: 10.3892/or.7.2.427. PMID: 10671697
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.
Miozzo M, Castorina P, Riva P, Dalprà L, Fuhrman Conti AM, Volpi L, Hoe TS, Khoo A, Wiegant J, Rosenberg C, Larizza L
Int J Cancer 1998 Aug 12;77(4):504-10. doi: 10.1002/(sici)1097-0215(19980812)77:4<504::aid-ijc5>3.0.co;2-y. PMID: 9679749
Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8.
Walker AP, Bocian M
Am J Med Genet 1987 May;27(1):3-22. doi: 10.1002/ajmg.1320270103. PMID: 3300332

Diagnosis

A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements.
Lim CK, Cho JW, Kim JY, Kang IS, Shim SH, Jun JH
Fertil Steril 2008 Nov;90(5):1680-4. Epub 2008 Feb 20 doi: 10.1016/j.fertnstert.2007.08.016. PMID: 18076880
De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.
Goumy C, Mihaescu M, Tchirkov A, Giollant M, Benier C, Francannet C, Jaffray JY, Geneix A, Vago P
Genet Couns 2006;17(3):371-9. PMID: 17100206
Low-level c-myc amplification in human colonic carcinoma cell lines and tumors: a frequent, p53-independent mutation associated with improved outcome in a randomized multi-institutional trial.
Augenlicht LH, Wadler S, Corner G, Richards C, Ryan L, Multani AS, Pathak S, Benson A, Haller D, Heerdt BG
Cancer Res 1997 May 1;57(9):1769-75. PMID: 9135021
A myeloid-related sequence that localizes to human chromosome 8q21.1-22.
Mars WM, van Tuinen P, Drabkin HA, White JW, Saunders GF
Blood 1988 Jun;71(6):1713-9. PMID: 3370315

Therapy

Low-level c-myc amplification in human colonic carcinoma cell lines and tumors: a frequent, p53-independent mutation associated with improved outcome in a randomized multi-institutional trial.
Augenlicht LH, Wadler S, Corner G, Richards C, Ryan L, Multani AS, Pathak S, Benson A, Haller D, Heerdt BG
Cancer Res 1997 May 1;57(9):1769-75. PMID: 9135021

Prognosis

A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements.
Lim CK, Cho JW, Kim JY, Kang IS, Shim SH, Jun JH
Fertil Steril 2008 Nov;90(5):1680-4. Epub 2008 Feb 20 doi: 10.1016/j.fertnstert.2007.08.016. PMID: 18076880
Herpes virus type 8-negative primary effusion lymphoma associated with PAX-5 gene rearrangement and hepatitis C virus: a case report and review of the literature.
Ichinohasama R, Miura I, Kobayashi N, Saitoh Y, DeCoteau JF, Saiki Y, Mori S, Kadin ME, Ooya K
Am J Surg Pathol 1998 Dec;22(12):1528-37. doi: 10.1097/00000478-199812000-00010. PMID: 9850179
Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.
Miozzo M, Castorina P, Riva P, Dalprà L, Fuhrman Conti AM, Volpi L, Hoe TS, Khoo A, Wiegant J, Rosenberg C, Larizza L
Int J Cancer 1998 Aug 12;77(4):504-10. doi: 10.1002/(sici)1097-0215(19980812)77:4<504::aid-ijc5>3.0.co;2-y. PMID: 9679749
Low-level c-myc amplification in human colonic carcinoma cell lines and tumors: a frequent, p53-independent mutation associated with improved outcome in a randomized multi-institutional trial.
Augenlicht LH, Wadler S, Corner G, Richards C, Ryan L, Multani AS, Pathak S, Benson A, Haller D, Heerdt BG
Cancer Res 1997 May 1;57(9):1769-75. PMID: 9135021

Clinical prediction guides

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M
PLoS One 2016;11(12):e0167984. Epub 2016 Dec 9 doi: 10.1371/journal.pone.0167984. PMID: 27936167Free PMC Article
Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients.
van der Burg M, Pac M, Berkowska MA, Goryluk-Kozakiewicz B, Wakulinska A, Dembowska-Baginska B, Gregorek H, Barendregt BH, Krajewska-Walasek M, Bernatowska E, van Dongen JJ, Chrzanowska KH, Langerak AW
Blood 2010 Jun 10;115(23):4770-7. Epub 2010 Apr 8 doi: 10.1182/blood-2009-10-250514. PMID: 20378756
GDF6, a novel locus for a spectrum of ocular developmental anomalies.
Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ
Am J Hum Genet 2007 Feb;80(2):306-15. Epub 2006 Dec 29 doi: 10.1086/511280. PMID: 17236135Free PMC Article
Evaluation of paediatric osteosarcomas by classic cytogenetic and CGH analyses.
Batanian JR, Cavalli LR, Aldosari NM, Ma E, Sotelo-Avila C, Ramos MB, Rone JD, Thorpe CM, Haddad BR
Mol Pathol 2002 Dec;55(6):389-93. doi: 10.1136/mp.55.6.389. PMID: 12456778Free PMC Article
Molecular cytogenetic mapping of recurrent chromosomal breakpoints in tenosynovial giant cell tumors.
Nilsson M, Höglund M, Panagopoulos I, Sciot R, Dal Cin P, Debiec-Rychter M, Mertens F, Mandahl N
Virchows Arch 2002 Nov;441(5):475-80. Epub 2002 Apr 13 doi: 10.1007/s00428-002-0640-y. PMID: 12447678

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