Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants.
BRCA1
case report
colorectal (colon) cancer
exome sequencing (ES)
homologous recombination deficiency (HRD)
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2022
2022
Historique:
received:
14
12
2021
accepted:
01
02
2022
entrez:
14
3
2022
pubmed:
15
3
2022
medline:
15
3
2022
Statut:
epublish
Résumé
The link between Patients were evaluated using targeted next generation sequencing, exome sequencing and chromosomal microarray analysis of the paired germline and tumor samples. These results were used to calculate the HRD score and the frequency of mutational signatures in the tumors. Three patients with metastatic CRC were heterozygous for a previously known A
Identifiants
pubmed: 35280729
doi: 10.3389/fonc.2022.835581
pmc: PMC8911702
doi:
Types de publication
Journal Article
Langues
eng
Pagination
835581Informations de copyright
Copyright © 2022 Freire, Martin, Thissen, Van Marcke, Segers, Sépulchre, Leroi, Lété, Fasquelle, Radermacher, Gokburun, Collignon, Sacré, Josse, Palmeira and Bours.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Clin Genet. 2015 May;87(5):411-8
pubmed: 25195694
Genome Med. 2018 Apr 25;10(1):33
pubmed: 29695279
Cancer Discov. 2012 Apr;2(4):366-375
pubmed: 22576213
Science. 1994 Oct 7;266(5182):66-71
pubmed: 7545954
Clin Colorectal Cancer. 2018 Dec;17(4):e647-e650
pubmed: 30033118
Ann Oncol. 2015 Jan;26(1):64-70
pubmed: 25319062
Hum Mol Genet. 2014 Sep 1;23(17):4703-9
pubmed: 24728189
BMC Cancer. 2008 May 20;8:140
pubmed: 18489799
Am J Gastroenterol. 1994 Jun;89(6):835-42
pubmed: 8198091
Int J Biol Markers. 2021 Mar;36(1):47-53
pubmed: 33583275
N Engl J Med. 2019 Dec 19;381(25):2403-2415
pubmed: 31562800
Cancer Res. 2012 Nov 1;72(21):5454-62
pubmed: 22933060
Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002
pubmed: 22144684
J Clin Oncol. 2016 Dec;34(34):4183-4185
pubmed: 27551127
Hum Mutat. 2004 Apr;23(4):397-8
pubmed: 15024741
Clin Genet. 2016 Mar;89(3):399
pubmed: 26566797
Am J Hum Genet. 1999 Sep;65(3):671-9
pubmed: 10441573
Medicina (Kaunas). 2021 Aug 30;57(9):
pubmed: 34577828
Fam Cancer. 2013 Dec;12(4):767-77
pubmed: 23479189
Br J Cancer. 2012 Nov 6;107(10):1776-82
pubmed: 23047548
Front Cell Dev Biol. 2020 Sep 09;8:564601
pubmed: 33015058
Nature. 2020 Feb;578(7793):94-101
pubmed: 32025018
Sci Rep. 2020 Apr 16;10(1):6491
pubmed: 32300229
Nat Genet. 1994 Dec;8(4):392-8
pubmed: 7894492
Cell Div. 2008 Jan 07;3:1
pubmed: 18179693
JAMA Oncol. 2020 Aug 1;6(8):1218-1230
pubmed: 32614418
J Natl Cancer Inst. 2013 Jun 5;105(11):812-22
pubmed: 23628597
J Natl Cancer Inst. 2018 Nov 1;110(11):1178-1189
pubmed: 30380096
Cancers (Basel). 2021 Feb 18;13(4):
pubmed: 33670479
Oncotarget. 2015 Nov 3;6(34):35616-24
pubmed: 26426992
Nature. 2013 Aug 22;500(7463):415-21
pubmed: 23945592
Br J Surg. 2020 Jul;107(8):951-959
pubmed: 32297664
Eur J Hum Genet. 2018 Mar;26(3):382-386
pubmed: 29321669
Cancer. 2015 Jan 15;121(2):269-75
pubmed: 25224030
Br J Cancer. 2014 Jan 21;110(2):530-4
pubmed: 24292448
Int J Med Sci. 2013;10(1):60-7
pubmed: 23289006
EPMA J. 2010 Sep;1(3):397-412
pubmed: 23199084