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Cancers
Volume 12
Issue 8
10.3390/cancers12082089
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Article

Comprehensive Cohort Analysis of Mutational Spectrum in Early Onset Breast Cancer Patients

by
Mohit K. Midha
1,2,
Yu-Feng Huang
1,
Hsiao-Hsiang Yang
3,
Tan-Chi Fan
4,
Nai-Chuan Chang
4,
Tzu-Han Chen
1,
Yu-Tai Wang
5,
Wen-Hung Kuo
6,
King-Jen Chang
6,
Chen-Yang Shen
7,
Alice L. Yu
4,8,
Kuo-Ping Chiu
1,2,9,* and
Chien-Jen Chen
1
1
Genomics Research Center, Academia Sinica, Taipei 11529, Taiwan
2
Institute of Biochemistry and Molecular Biology, National Yang-Ming University, Taipei 112, Taiwan
3
Department of Medical Research, Hsinchu Mackay Memorial Hospital, Hsinchu 300, Taiwan
4
Institute of Stem Cell and Translational Cancer Research, Chang Gung Memorial Hospital at Linkou and Chang Gung University, No. 5, Fu-Shin St., Kuei Shang, Taoyuan 333, Taiwan
5
National Center for High-Performance Computing, Hsinchu Science Park, Hsinchu 300, Taiwan
6
Department of Surgery, National Taiwan University Hospital, Taipei 100, Taiwan
7
Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan
8
Department of Pediatrics, University of California in San Diego, San Diego, CA 92161, USA
9
Department of Life Sciences, College of Life Sciences, National Taiwan University, Taipei 10617, Taiwan
*
Author to whom correspondence should be addressed.
Cancers 2020, 12(8), 2089; https://doi.org/10.3390/cancers12082089
Received: 16 June 2020 / Revised: 23 July 2020 / Accepted: 24 July 2020 / Published: 28 July 2020
(This article belongs to the Collection Application of Bioinformatics in Cancers)
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Abstract

Early onset breast cancer (EOBC), diagnosed at age ~40 or younger, is associated with a poorer prognosis and higher mortality rate compared to breast cancer diagnosed at age 50 or older. EOBC poses a serious threat to public health and requires in-depth investigation. We studied a cohort comprising 90 Taiwanese female patients, aiming to unravel the underlying mechanisms of EOBC etiopathogenesis. Sequence data generated by whole-exome sequencing (WES) and whole-genome sequencing (WGS) from white blood cell (WBC)–tumor pairs were analyzed to identify somatic missense mutations, copy number variations (CNVs) and germline missense mutations. Similar to regular breast cancer, the key somatic mutation-susceptibility genes of EOBC include TP53 (40% prevalence), PIK3CA (37%), GATA3 (17%) and KMT2C (17%), which are frequently reported in breast cancer; however, the structural protein-coding genes MUC17 (19%), FLG (16%) and NEBL (11%) show a significantly higher prevalence in EOBC. Furthermore, the top 2 genes harboring EOBC germline mutations, MUC16 (19%) and KRT18 (19%), encode structural proteins. Compared to conventional breast cancer, an unexpectedly higher number of EOBC susceptibility genes encode structural proteins. We suspect that mutations in structural proteins may increase physical permeability to environmental hormones and carcinogens and cause breast cancer to occur at a young age. View Full-Text
Keywords: early onset breast cancer (EOBC); missense mutations; nonsynonymous mutations; somatic mutations; germline mutations early onset breast cancer (EOBC); missense mutations; nonsynonymous mutations; somatic mutations; germline mutations
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MDPI and ACS Style

Midha, M.K.; Huang, Y.-F.; Yang, H.-H.; Fan, T.-C.; Chang, N.-C.; Chen, T.-H.; Wang, Y.-T.; Kuo, W.-H.; Chang, K.-J.; Shen, C.-Y.; Yu, A.L.; Chiu, K.-P.; Chen, C.-J. Comprehensive Cohort Analysis of Mutational Spectrum in Early Onset Breast Cancer Patients. Cancers 2020, 12, 2089. https://doi.org/10.3390/cancers12082089

AMA Style

Midha MK, Huang Y-F, Yang H-H, Fan T-C, Chang N-C, Chen T-H, Wang Y-T, Kuo W-H, Chang K-J, Shen C-Y, Yu AL, Chiu K-P, Chen C-J. Comprehensive Cohort Analysis of Mutational Spectrum in Early Onset Breast Cancer Patients. Cancers. 2020; 12(8):2089. https://doi.org/10.3390/cancers12082089

Chicago/Turabian Style

Midha, Mohit K., Yu-Feng Huang, Hsiao-Hsiang Yang, Tan-Chi Fan, Nai-Chuan Chang, Tzu-Han Chen, Yu-Tai Wang, Wen-Hung Kuo, King-Jen Chang, Chen-Yang Shen, Alice L. Yu, Kuo-Ping Chiu, and Chien-Jen Chen. 2020. "Comprehensive Cohort Analysis of Mutational Spectrum in Early Onset Breast Cancer Patients" Cancers 12, no. 8: 2089. https://doi.org/10.3390/cancers12082089

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