Detailed Information

Cited 1 time in webofscience Cited 1 time in scopus
Metadata Downloads

Genomic landscape of extraordinary responses in metastatic breast cancer

Authors
Lim, Sun MinKim, EunyoungJung, Kyung HaeKim, SoraKoo, Ja SeungKim, Seung IlPark, SehoPark, Hyung SeokPark, Byoung WooCho, Young UpKim, Ji YePaik, SoonmyungKwon, Nak-JungKim, Gun MinKim, Ji HyoungKim, Min HwanJeon, Min KyungKim, SangwooSohn, Joohyuk
Issue Date
Dec-2021
Publisher
Nature Publishing Group
Citation
Communications Biology, v.4, no.1, pp.449
Journal Title
Communications Biology
Volume
4
Number
1
Start Page
449
URI
https://yscholarhub.yonsei.ac.kr/handle/2021.sw.yonsei/5382
DOI
10.1038/s42003-021-01973-x
ISSN
2399-3642
Abstract
Extreme responders to anticancer therapy are rare among advanced breast cancer patients. Researchers, however, have yet to investigate treatment responses therein on the whole exome level. We performed whole exome analysis to characterize the genomic landscape of extreme responders among metastatic breast cancer patients. Clinical samples were obtained from breast cancer patients who showed exceptional responses to anti-HER2 therapy or hormonal therapy and from those who did not. Matched breast tumor tissue (somatic DNA) and blood samples (germline DNA) were collected from a total of 30 responders and 15 non-responders. Whole exome sequencing using Illumina HiSeq2500 was performed for all 45 patients (90 samples). Somatic single nucleotide variants (SNVs), indels, and copy number variants (CNVs) were identified for the genomes of each patient. Group-specific somatic variants and mutational burden were statistically analyzed. Sequencing of cancer exomes for all patients revealed 1839 somatic SNVs (1661 missense, 120 nonsense, 43 splice-site, 15 start/stop-lost) and 368 insertions/deletions (273 frameshift, 95 in-frame), with a median of 0.7 mutations per megabase (range, 0.08 to 4.2 mutations per megabase). Responders harbored a significantly lower nonsynonymous mutational burden (median, 26 vs. 59, P = 0.02) and fewer CNVs (median 13.6 vs. 97.7, P = 0.05) than non-responders. Multivariate analyses of factors influencing progression-free survival showed that a high mutational burden and visceral metastases were significantly related with disease progression. Extreme responders to treatment for metastatic breast cancer are characterized by fewer nonsynonymous mutations and CNVs.
Files in This Item
There are no files associated with this item.
Appears in
Collections
ETC > 1. Journal Articles

qrcode

Items in Scholar Hub are protected by copyright, with all rights reserved, unless otherwise indicated.

Related Researcher

Researcher KIM, EUNYOUNG photo

KIM, EUNYOUNG
College of Medicine
Read more

Altmetrics

Total Views & Downloads

BROWSE