5' Region Large Genomic Rearrangements in the
BRCA1 gene
large duplication
large genomic rearrangement
triplication
variant of unknown significance
Journal
Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829
Informations de publication
Date de publication:
25 Jun 2021
25 Jun 2021
Historique:
received:
30
04
2021
revised:
11
06
2021
accepted:
17
06
2021
entrez:
2
7
2021
pubmed:
3
7
2021
medline:
3
7
2021
Statut:
epublish
Résumé
Large genomic rearrangements (LGR) in DNA from 20 families with one apparent duplication and nine deletions was analyzed with a dedicated comparative genomic hybridization (CGH) array, high-resolution BRCA1 Genomic Morse Codes analysis and Sanger sequencing. The apparent duplication was in fact a tandem triplication of exons 1 and 2 and part of intron 2 of Taken together, our results firmly establish that the
Sections du résumé
BACKGROUND
BACKGROUND
Large genomic rearrangements (LGR) in
METHODS
METHODS
DNA from 20 families with one apparent duplication and nine deletions was analyzed with a dedicated comparative genomic hybridization (CGH) array, high-resolution BRCA1 Genomic Morse Codes analysis and Sanger sequencing.
RESULTS
RESULTS
The apparent duplication was in fact a tandem triplication of exons 1 and 2 and part of intron 2 of
CONCLUSIONS
CONCLUSIONS
Taken together, our results firmly establish that the
Identifiants
pubmed: 34202044
pii: cancers13133171
doi: 10.3390/cancers13133171
pmc: PMC8268747
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Institut National Du Cancer
ID : 2013-1-BCB-01-ICH-1
Organisme : GENETICANCER
Organisme : Cercle de l'Olympe
Références
J Biol Chem. 2002 May 10;277(19):17349-58
pubmed: 11877386
Genet Med. 2019 Mar;21(3):683-693
pubmed: 30054569
Am J Hum Genet. 2000 Jul;67(1):207-12
pubmed: 10827109
Am J Hum Genet. 2002 Apr;70(4):858-65
pubmed: 11880951
Oncotarget. 2018 Apr 3;9(25):17334-17348
pubmed: 29707112
Clin Genet. 2007 Sep;72(3):199-207
pubmed: 17718857
Genes Chromosomes Cancer. 2015 Oct;54(10):646-52
pubmed: 26171949
Science. 1994 Oct 7;266(5182):120-2
pubmed: 7939630
Hum Mutat. 2012 Jun;33(6):998-1009
pubmed: 22473970
Hum Mutat. 2005 May;25(5):415-22
pubmed: 15832305
Cancer. 2012 Nov 1;118(21):5210-6
pubmed: 22544547
Hum Mutat. 2012 Jan;33(1):8-21
pubmed: 21990134
Genet Test. 2006 Summer;10(2):104-15
pubmed: 16792513
Hum Mol Genet. 1997 Sep;6(9):1513-7
pubmed: 9285788
Cancer Res. 2012 Nov 1;72(21):5454-62
pubmed: 22933060
Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002
pubmed: 22144684
Hum Mutat. 2008 Nov;29(11):1282-91
pubmed: 18951446
Cancer Res. 1999 Jan 15;59(2):455-61
pubmed: 9927062
Breast Cancer Res. 2014 Dec 23;16(6):3419
pubmed: 25857409
Am J Hum Genet. 2007 Nov;81(5):873-83
pubmed: 17924331
J Med Genet. 2012 Aug;49(8):525-32
pubmed: 22889855
Clin Chim Acta. 2009 May;403(1-2):249-53
pubmed: 19393826
Cancer Res. 1997 Mar 1;57(5):828-31
pubmed: 9041180
Breast Cancer Res Treat. 2012 Jun;133(3):1179-90
pubmed: 22476849
Breast Cancer Res Treat. 2011 Jan;125(2):325-49
pubmed: 20232141
Leuk Res. 1986;10(8):1059-60
pubmed: 3018384
Cancer Res. 2020 Apr 1;80(7):1374-1386
pubmed: 32046981
Hum Mol Genet. 2003 May 1;12(9):1055-61
pubmed: 12700174
Cancer Res. 2003 Apr 1;63(7):1449-53
pubmed: 12670888
J Med Genet. 2006 Apr;43(4):295-305
pubmed: 16014699
Genome Res. 1996 Nov;6(11):1029-49
pubmed: 8938427
PeerJ. 2019 Nov 15;7:e7972
pubmed: 31741787
Genet Mol Biol. 2009 Jul;32(3):437-46
pubmed: 21637503
Hum Mutat. 2016 Jul;37(7):627-39
pubmed: 26913838
Breast Cancer Res Treat. 2010 Aug;122(3):733-43
pubmed: 19894111
Hum Mutat. 2003 Jun;21(6):654
pubmed: 14961556
Mol Cancer Res. 2019 Jan;17(1):54-69
pubmed: 30257991
Genet Test Mol Biomarkers. 2009 Jun;13(3):399-406
pubmed: 19405878
Hum Mutat. 2008 Jul;29(7):948-58
pubmed: 18431737
Clin Genet. 2004 Feb;65(2):131-6
pubmed: 14984472
PLoS One. 2014 Mar 31;9(3):e93306
pubmed: 24686251
Am J Hum Genet. 2004 Oct;75(4):535-44
pubmed: 15290653
Cancer Genet Cytogenet. 2006 Jul 1;168(1):44-9
pubmed: 16772120
Hum Mutat. 2007 Dec;28(12):1207-15
pubmed: 17688236
Hum Mutat. 2019 Sep;40(9):1557-1578
pubmed: 31131967
Cancer Res. 2020 Sep 1;80(17):3593-3605
pubmed: 32641407
Hum Mutat. 2016 Dec;37(12):1318-1328
pubmed: 27633797
Hum Mutat. 2009 Jun;30(6):867-75
pubmed: 19224586
Mol Biol Cell. 2006 Dec;17(12):5337-45
pubmed: 17005913
Genet Med. 2020 Dec;22(12):2052-2059
pubmed: 32773770
Hum Mutat. 2002 Sep;20(3):218-26
pubmed: 12203994
Science. 1994 Oct 7;266(5182):66-71
pubmed: 7545954
Genet Med. 2019 Jul;21(7):1603-1610
pubmed: 30563988
Breast Cancer Res Treat. 2008 Nov;112(1):63-7
pubmed: 18060491
J Med Genet. 2021 Jun;58(6):357-361
pubmed: 32576655
Am J Hum Genet. 2003 Sep;73(3):652-5
pubmed: 12900794
Hum Mutat. 2008 Apr;29(4):555-64
pubmed: 18330910