Structural Variants at the
Journal
Clinical cancer research : an official journal of the American Association for Cancer Research
ISSN: 1557-3265
Titre abrégé: Clin Cancer Res
Pays: United States
ID NLM: 9502500
Informations de publication
Date de publication:
01 06 2021
01 06 2021
Historique:
received:
20
10
2020
revised:
29
01
2021
accepted:
16
03
2021
pubmed:
21
3
2021
medline:
22
3
2022
entrez:
20
3
2021
Statut:
ppublish
Résumé
The abundance and effects of structural variation at BRCA1/2 in tumors are not well understood. In particular, the impact of these events on homologous recombination repair deficiency (HRD) has yet to be demonstrated. Exploiting a large collection of whole-genome sequencing data from high-grade serous ovarian carcinoma ( In addition to the known spectrum of short somatic mutations (SSM), we discovered that multi-megabase structural variants (SV) were a frequent, unappreciated source of These results extend our understanding of the mutational landscape underlying HRD, increase the number of patients predicted to benefit from therapies exploiting HRD, and suggest there is currently untapped potential in SV detection for patient stratification.
Identifiants
pubmed: 33741650
pii: 1078-0432.CCR-20-4068
doi: 10.1158/1078-0432.CCR-20-4068
pmc: PMC7610896
mid: EMS121115
doi:
Substances chimiques
BRCA1 Protein
0
BRCA1 protein, human
0
BRCA2 Protein
0
BRCA2 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3201-3214Subventions
Organisme : Cancer Research UK
ID : A17263
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00007/16
Pays : United Kingdom
Organisme : Cancer Research UK
ID : A18484
Pays : United Kingdom
Organisme : Cancer Research UK
ID : A23526
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C596/A20921
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C29717/A17263
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C596/A18076
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 103721/Z/14/Z
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Cancer Research UK
ID : C29717/A18484
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R026017/1
Pays : United Kingdom
Informations de copyright
©2021 American Association for Cancer Research.
Références
Bioinformatics. 2016 Jan 15;32(2):289-91
pubmed: 26424858
Cell. 2003 Nov 26;115(5):523-35
pubmed: 14651845
Ann Oncol. 2016 Sep;27(suppl 5):v103-v110
pubmed: 27664246
Nature. 2016 May 02;534(7605):47-54
pubmed: 27135926
Lancet Oncol. 2017 Jan;18(1):75-87
pubmed: 27908594
F1000Res. 2018 Nov 19;7:
pubmed: 30519450
Nature. 2020 Feb;578(7793):112-121
pubmed: 32025012
Hum Mutat. 2018 Nov;39(11):1623-1630
pubmed: 30311387
Nat Commun. 2020 Nov 4;11(1):5584
pubmed: 33149131
Lancet. 2017 Oct 28;390(10106):1949-1961
pubmed: 28916367
Oncoscience. 2015 Feb 20;2(2):81-90
pubmed: 25859550
Nature. 2011 Jun 29;474(7353):609-15
pubmed: 21720365
Nature. 2015 May 28;521(7553):489-94
pubmed: 26017449
Genome Biol. 2014;15(12):550
pubmed: 25516281
N Engl J Med. 2016 Dec;375(22):2154-2164
pubmed: 27717299
Gynecol Oncol. 2006 Feb;100(2):264-70
pubmed: 16236351
Nat Rev Cancer. 2015 Nov;15(11):668-79
pubmed: 26493647
BMC Genomics. 2017 Apr 24;18(1):321
pubmed: 28438122
Nature. 2020 Feb;578(7793):82-93
pubmed: 32025007
J Med Genet. 2018 Nov;55(11):735-743
pubmed: 30061371
Clin Cancer Res. 2017 Dec 15;23(24):7521-7530
pubmed: 29246904
Nat Rev Cancer. 2001 Nov;1(2):157-62
pubmed: 11905807
Nat Genet. 2013 Oct;45(10):1127-33
pubmed: 24071851
Bioinformatics. 2016 Apr 15;32(8):1220-2
pubmed: 26647377
N Engl J Med. 2019 Dec 19;381(25):2416-2428
pubmed: 31851799
Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3
pubmed: 5279523
BJOG. 2020 Oct;127(11):1409-1420
pubmed: 32285600
Nature. 2019 Jul;571(7766):576-579
pubmed: 31292550
Cell Rep. 2018 Apr 03;23(1):239-254.e6
pubmed: 29617664
Nature. 1995 Dec 21-28;378(6559):789-92
pubmed: 8524414
Nature. 2019 Nov;575(7781):210-216
pubmed: 31645765
Cancer. 2019 Aug 15;125(16):2772-2781
pubmed: 31154673
Methods. 2016 Jun 1;102:36-49
pubmed: 26845461
Gynecol Oncol. 2006 Jun;101(3):403-10
pubmed: 16360812
N Engl J Med. 2019 Jul 25;381(4):317-327
pubmed: 31157963
Nucleic Acids Res. 2019 Jan 8;47(D1):D886-D894
pubmed: 30371827
N Engl J Med. 2018 Dec 27;379(26):2495-2505
pubmed: 30345884
J Clin Oncol. 2019 Sep 1;37(25):2257-2269
pubmed: 31050911
N Engl J Med. 2017 Aug 10;377(6):523-533
pubmed: 28578601
Cancer Cell. 2018 Apr 9;33(4):690-705.e9
pubmed: 29622464
Oncotarget. 2017 Jul 4;8(27):43653-43661
pubmed: 28525389
Cancer Discov. 2015 Nov;5(11):1137-54
pubmed: 26463832
Nat Rev Cancer. 2016 Feb;16(2):110-20
pubmed: 26775620
Cancer Biol Med. 2016 Jun;13(2):236-47
pubmed: 27458531
N Engl J Med. 2020 May 28;382(22):2091-2102
pubmed: 32343890
Science. 1994 Oct 7;266(5182):66-71
pubmed: 7545954
Lancet Oncol. 2014 Jul;15(8):852-61
pubmed: 24882434
Nat Methods. 2017 Apr;14(4):417-419
pubmed: 28263959
N Engl J Med. 2019 Dec 19;381(25):2391-2402
pubmed: 31562799
N Engl J Med. 2018 Aug 23;379(8):753-763
pubmed: 30110579
Nat Med. 2017 Apr;23(4):517-525
pubmed: 28288110