Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer

Abstract Inflammatory breast cancer (IBC) is the most aggressive form of breast cancer. Although it is a rare subtype, IBC is responsible for roughly 10% of breast cancer deaths. In order to obtain a better understanding of the genomic landscape and intratumor heterogeneity (ITH) in IBC, we conducte...

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Autores principales:	Rui Luo, Weelic Chong, Qiang Wei, Zhenchao Zhang, Chun Wang, Zhong Ye, Maysa M. Abu-Khalaf, Daniel P. Silver, Robert T. Stapp, Wei Jiang, Ronald E. Myers, Bingshan Li, Massimo Cristofanilli, Hushan Yang
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/885ab6ec335d4e03b4834744d638b55f
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spelling	oai:doaj.org-article:885ab6ec335d4e03b4834744d638b55f2021-12-02T15:56:53ZWhole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer10.1038/s41523-021-00278-w2374-4677https://doaj.org/article/885ab6ec335d4e03b4834744d638b55f2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41523-021-00278-whttps://doaj.org/toc/2374-4677Abstract Inflammatory breast cancer (IBC) is the most aggressive form of breast cancer. Although it is a rare subtype, IBC is responsible for roughly 10% of breast cancer deaths. In order to obtain a better understanding of the genomic landscape and intratumor heterogeneity (ITH) in IBC, we conducted whole-exome sequencing of 16 tissue samples (12 tumor and four normal samples) from six hormone-receptor-positive IBC patients, analyzed somatic mutations and copy number aberrations, and inferred subclonal structures to demonstrate ITH. Our results showed that KMT2C was the most frequently mutated gene (42%, 5/12 samples), followed by HECTD1, LAMA3, FLG2, UGT2B4, STK33, BRCA2, ACP4, PIK3CA, and DNAH8 (all nine genes tied at 33% frequency, 4/12 samples). Our data indicated that PTEN and FBXW7 mutations may be considered driver gene mutations for IBC. We identified various subclonal structures and different levels of ITH between IBC patients, and mutations in the genes EIF4G3, IL12RB2, and PDE4B may potentially generate ITH in IBC.Rui LuoWeelic ChongQiang WeiZhenchao ZhangChun WangZhong YeMaysa M. Abu-KhalafDaniel P. SilverRobert T. StappWei JiangRonald E. MyersBingshan LiMassimo CristofanilliHushan YangNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Breast Cancer, Vol 7, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Rui Luo Weelic Chong Qiang Wei Zhenchao Zhang Chun Wang Zhong Ye Maysa M. Abu-Khalaf Daniel P. Silver Robert T. Stapp Wei Jiang Ronald E. Myers Bingshan Li Massimo Cristofanilli Hushan Yang Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer
description	Abstract Inflammatory breast cancer (IBC) is the most aggressive form of breast cancer. Although it is a rare subtype, IBC is responsible for roughly 10% of breast cancer deaths. In order to obtain a better understanding of the genomic landscape and intratumor heterogeneity (ITH) in IBC, we conducted whole-exome sequencing of 16 tissue samples (12 tumor and four normal samples) from six hormone-receptor-positive IBC patients, analyzed somatic mutations and copy number aberrations, and inferred subclonal structures to demonstrate ITH. Our results showed that KMT2C was the most frequently mutated gene (42%, 5/12 samples), followed by HECTD1, LAMA3, FLG2, UGT2B4, STK33, BRCA2, ACP4, PIK3CA, and DNAH8 (all nine genes tied at 33% frequency, 4/12 samples). Our data indicated that PTEN and FBXW7 mutations may be considered driver gene mutations for IBC. We identified various subclonal structures and different levels of ITH between IBC patients, and mutations in the genes EIF4G3, IL12RB2, and PDE4B may potentially generate ITH in IBC.
format	article
author	Rui Luo Weelic Chong Qiang Wei Zhenchao Zhang Chun Wang Zhong Ye Maysa M. Abu-Khalaf Daniel P. Silver Robert T. Stapp Wei Jiang Ronald E. Myers Bingshan Li Massimo Cristofanilli Hushan Yang
author_facet	Rui Luo Weelic Chong Qiang Wei Zhenchao Zhang Chun Wang Zhong Ye Maysa M. Abu-Khalaf Daniel P. Silver Robert T. Stapp Wei Jiang Ronald E. Myers Bingshan Li Massimo Cristofanilli Hushan Yang
author_sort	Rui Luo
title	Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer
title_short	Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer
title_full	Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer
title_fullStr	Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer
title_full_unstemmed	Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer
title_sort	whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/885ab6ec335d4e03b4834744d638b55f
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Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer

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