Profiling the Somatic Mutational Landscape of Breast Tumors from Hispanic/Latina Women Reveals Conserved and Unique Characteristics.
Journal
Cancer research
ISSN: 1538-7445
Titre abrégé: Cancer Res
Pays: United States
ID NLM: 2984705R
Informations de publication
Date de publication:
01 08 2023
01 08 2023
Historique:
received:
12
08
2022
revised:
16
02
2023
accepted:
02
05
2023
medline:
2
8
2023
pubmed:
5
5
2023
entrez:
5
5
2023
Statut:
ppublish
Résumé
Somatic mutational profiling is increasingly being used to identify potential targets for breast cancer. However, limited tumor-sequencing data from Hispanic/Latinas (H/L) are available to guide treatment. To address this gap, we performed whole-exome sequencing (WES) and RNA sequencing on 146 tumors and WES of matched germline DNA from 140 H/L women in California. Tumor intrinsic subtype, somatic mutations, copy-number alterations, and expression profiles of the tumors were characterized and compared with data from tumors of non-Hispanic White (White) women in The Cancer Genome Atlas (TCGA). Eight genes were significantly mutated in the H/L tumors including PIK3CA, TP53, GATA3, MAP3K1, CDH1, CBFB, PTEN, and RUNX1; the prevalence of mutations in these genes was similar to that observed in White women in TCGA. Four previously reported Catalogue of Somatic Mutations in Cancer (COSMIC) mutation signatures (1, 2, 3, 13) were found in the H/L dataset, along with signature 16 that has not been previously reported in other breast cancer datasets. Recurrent amplifications were observed in breast cancer drivers including MYC, FGFR1, CCND1, and ERBB2, as well as a recurrent amplification in 17q11.2 associated with high KIAA0100 gene expression that has been implicated in breast cancer aggressiveness. In conclusion, this study identified a higher prevalence of COSMIC signature 16 and a recurrent copy-number amplification affecting expression of KIAA0100 in breast tumors from H/L compared with White women. These results highlight the necessity of studying underrepresented populations. Comprehensive characterization of genomic and transcriptomic alterations in breast tumors from Hispanic/Latina patients reveals distinct genetic alterations and signatures, demonstrating the importance of inclusive studies to ensure equitable care for patients. See related commentary by Schmit et al., p. 2443.
Identifiants
pubmed: 37145128
pii: 726322
doi: 10.1158/0008-5472.CAN-22-2510
pmc: PMC10390863
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2600-2613Subventions
Organisme : NCI NIH HHS
ID : RC4 CA153828
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA204797
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007118
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA033572
Pays : United States
Organisme : NCI NIH HHS
ID : K24 CA169004
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA184585
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
©2023 The Authors; Published by the American Association for Cancer Research.
Références
Cancer Discov. 2021 Mar;11(3):591-598
pubmed: 33268447
Genome Biol. 2011;12(4):R41
pubmed: 21527027
Cell. 2013 Jan 31;152(3):633-41
pubmed: 23374354
Cancer Discov. 2017 Apr;7(4):410-423
pubmed: 28188128
Nat Commun. 2021 Apr 14;12(1):2245
pubmed: 33854067
Br J Cancer. 2021 Jan;124(2):315-332
pubmed: 32901135
Cancer Res. 2013 Dec 15;73(24):7243-53
pubmed: 24177181
Clin Cancer Res. 2004 Dec 15;10(24):8195-203
pubmed: 15623594
Breast Cancer Res. 2015 Feb 26;17:29
pubmed: 25849221
Am J Hum Genet. 2013 Aug 8;93(2):278-88
pubmed: 23910464
Nature. 2013 Jul 11;499(7457):214-218
pubmed: 23770567
Pharmacogenomics J. 2019 Jun;19(3):249-259
pubmed: 30206298
Nat Commun. 2014 Oct 20;5:5260
pubmed: 25327703
Nat Genet. 2016 Nov;48(11):1330-1338
pubmed: 27643540
Nucleic Acids Res. 2016 Sep 19;44(16):e131
pubmed: 27270079
Nucleic Acids Res. 2019 Jan 8;47(D1):D941-D947
pubmed: 30371878
N Engl J Med. 2019 May 16;380(20):1929-1940
pubmed: 31091374
Cancer. 2019 Aug 15;125(16):2829-2836
pubmed: 31206626
Cancer Cell. 2020 May 11;37(5):639-654.e6
pubmed: 32396860
Nat Genet. 2016 Aug;48(8):965-969
pubmed: 27376236
Genome Biol. 2016 Sep 15;17(1):185
pubmed: 27634334
Nat Commun. 2016 May 10;7:11479
pubmed: 27161491
Gigascience. 2015 Feb 25;4:7
pubmed: 25722852
JAMA Oncol. 2017 Dec 1;3(12):1654-1662
pubmed: 28472234
Nature. 2012 Oct 4;490(7418):61-70
pubmed: 23000897
Nature. 2016 May 02;534(7605):47-54
pubmed: 27135926
J Thorac Oncol. 2015 May;10(5):838-843
pubmed: 25634006
BMC Bioinformatics. 2011 Jun 18;12:246
pubmed: 21682921
Nat Commun. 2014 Oct 09;5:5129
pubmed: 25298230
Am J Hum Genet. 2021 Oct 7;108(10):1880-1890
pubmed: 34478634
Nat Commun. 2019 Jul 15;10(1):3107
pubmed: 31308362
Ann Oncol. 2012 Sep;23 Suppl 10:x231-6
pubmed: 22987968
Cancer Cell. 2018 Oct 8;34(4):549-560.e9
pubmed: 30300578
Nature. 2020 Apr;580(7801):93-99
pubmed: 32238934
PLoS One. 2014 Jan 28;9(1):e86952
pubmed: 24489812
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Biochim Biophys Acta. 2006 Jan;1760(1):62-9
pubmed: 16289875
F1000Res. 2016 Jun 20;5:1438
pubmed: 27508061
Bioinformatics. 2018 Jul 15;34(14):2515-2517
pubmed: 29509844
Nature. 2020 Feb;578(7793):94-101
pubmed: 32025018
CA Cancer J Clin. 2019 May;69(3):211-233
pubmed: 30762872
Science. 2004 Jun 4;304(5676):1497-500
pubmed: 15118125
Cancer. 2021 Dec 01;127(23):4384-4392
pubmed: 34427920
Nat Genet. 2021 Mar;53(3):412
pubmed: 33473199
Genome Med. 2018 Apr 25;10(1):33
pubmed: 29695279
Cancer Res. 2002 Dec 1;62(23):7025-30
pubmed: 12460923
Cancer Epidemiol Biomarkers Prev. 2005 Dec;14(12):2905-13
pubmed: 16365008
Cancers (Basel). 2018 Jun 04;10(6):
pubmed: 29867023
Carcinogenesis. 2013 Oct;34(10):2240-3
pubmed: 23715497
Cancer Epidemiol Biomarkers Prev. 2022 Jun 1;31(6):1185-1194
pubmed: 35314859
Nat Genet. 2021 Jan;53(1):120-126
pubmed: 33414550
Trends Genet. 2019 Jul;35(7):515-526
pubmed: 31128889
Cancer Res. 2020 May 1;80(9):1893-1901
pubmed: 32245796
Int J Oncol. 2008 Aug;33(2):261-70
pubmed: 18636146
Nucleic Acids Res. 2018 Jan 4;46(D1):D1062-D1067
pubmed: 29165669
Cell. 2015 Oct 8;163(2):506-19
pubmed: 26451490
Nature. 2012 Apr 18;486(7403):346-52
pubmed: 22522925