Profiling the Somatic Mutational Landscape of Breast Tumors from Hispanic/Latina Women Reveals Conserved and Unique Characteristics-Reference-Cited by-同舟云学术

Profiling the Somatic Mutational Landscape of Breast Tumors from Hispanic/Latina Women Reveals Conserved and Unique Characteristics

Published:2023-05-05 Issue:15 Volume:83 Page:2600-2613
ISSN:0008-5472
Container-title:Cancer Research
language:en
Short-container-title:

Author:

Ding Yuan Chun¹^ORCID,Song Hanbing²^ORCID,Adamson Aaron W.¹^ORCID,Schmolze Daniel³^ORCID,Hu Donglei⁴^ORCID,Huntsman Scott⁴^ORCID,Steele Linda¹^ORCID,Patrick Carmina S.¹^ORCID,Tao Shu⁵^ORCID,Hernandez Natalie⁶^ORCID,Adams Charleen D.⁷^ORCID,Fejerman Laura⁸^ORCID,Gardner Kevin⁹^ORCID,Nápoles Anna María¹⁰^ORCID,Pérez-Stable Eliseo J.¹¹^ORCID,Weitzel Jeffrey N.¹²^ORCID,Bengtsson Henrik¹³¹⁴^ORCID,Huang Franklin W.²¹⁴¹⁵¹⁶¹⁷¹⁸^ORCID,Neuhausen Susan L.¹^ORCID,Ziv Elad⁴¹⁴¹⁶^ORCID

Affiliation:

1. 1Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California.

2. 2Division of Hematology/Oncology, Department of Medicine, University of California, San Francisco, San Francisco, California.

3. 3Department of Pathology, City of Hope Medical Center, Duarte, California.

4. 4Division of General Internal Medicine, Department of Medicine, University of California, San Francisco, San Francisco, California.

5. 5Integrative Genomics Shared Resource, Beckman Research Institute of City of Hope, Duarte, California.

6. 6Western University of Health Sciences College of Graduate Nursing, Pomona, California.

7. 7Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

8. 8Department of Public Health Sciences and Comprehensive Cancer Center, University of California Davis, Davis, California.

9. 9Department of Pathology and Cell Biology, Columbia University Irvine Medical Center, New York, New York.

10. 10Division of Intramural Research, National Institute on Minority and Health Disparities, National Institutes of Health, Bethesda, Maryland.

11. 11National Institute on Minority and Health Disparities, NIH, Bethesda, Maryland.

12. 12Latin American School of Oncology, Sierra Madre, California.

13. 13Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California.

14. 14Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California.

15. 15Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, California.

16. 16Institute for Human Genetics, University of California, San Francisco, San Francisco, California.

17. 17Chan Zuckerberg Biohub, San Francisco, California.

18. 18Department of Medicine, San Francisco Veterans Affairs Medical Center, San Francisco, California.

Abstract

Abstract 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. Significance: 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

Funder

National Cancer Institute

Publisher

American Association for Cancer Research (AACR)

Subject

Cancer Research,Oncology

Link

https://aacrjournals.org/cancerres/article-pdf/doi/10.1158/0008-5472.CAN-22-2510/3329955/can-22-2510.pdf

Reference58 articles.

1. Comprehensive molecular portraits of human breast tumours;Cancer Genome Atlas Network;Nature,2012

2. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups;Curtis;Nature,2012

3. The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes;Pereira;Nat Commun,2016

4. Alpelisib for PIK3CA-mutated, hormone receptor-positive advanced breast cancer;Andre;N Engl J Med,2019

5. High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan;Huang;Clin Cancer Res,2004

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Association ofESR1germline variants withTP53somatic variants in breast tumors in a genome-wide study;2023-12-07

2. Analysis of ductal carcinoma in situ by self-reported race reveals molecular differences related to outcome;2023-10-02

3. Efforts to Grow Genomic Research in Ancestrally Diverse and Admixed Populations;Cancer Research;2023-08-01