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Genomic landscape of extraordinary responses in metastatic breast cancer

 Sun Min Lim  ;  Eunyoung Kim  ;  Kyung Hae Jung  ;  Sora Kim  ;  Ja Seung Koo  ;  Seung Il Kim  ;  Seho Park  ;  Hyung Seok Park  ;  Byoung Woo Park  ;  Young Up Cho  ;  Ji Ye Kim  ;  Soonmyung Paik  ;  Nak-Jung Kwon  ;  Gun Min Kim  ;  Ji Hyoung Kim  ;  Min Hwan Kim  ;  Min Kyung Jeon  ;  Sangwoo Kim  ;  Joohyuk Sohn 
 COMMUNICATIONS BIOLOGY, Vol.4(1) : 449, 2021-04 
Journal Title
Issue Date
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.
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1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Biomedical Systems Informatics (의생명시스템정보학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Koo, Ja Seung(구자승) ORCID logo https://orcid.org/0000-0003-4546-4709
Kim, Gun Min(김건민) ORCID logo https://orcid.org/0000-0001-9167-8682
Kim, Min Hwan(김민환) ORCID logo https://orcid.org/0000-0002-1595-6342
Kim, Sangwoo(김상우) ORCID logo https://orcid.org/0000-0001-5356-0827
Kim, Seung Il(김승일)
Kim, Jee Ye(김지예) ORCID logo https://orcid.org/0000-0003-3936-4410
Kim, Jee Hung(김지형) ORCID logo https://orcid.org/0000-0002-9044-8540
Park, Byeong Woo(박병우) ORCID logo https://orcid.org/0000-0003-1353-2607
Park, Se Ho(박세호) ORCID logo https://orcid.org/0000-0001-8089-2755
Park, Hyung Seok(박형석) ORCID logo https://orcid.org/0000-0001-5322-6036
Paik, Soon Myung(백순명) ORCID logo https://orcid.org/0000-0001-9688-6480
Sohn, Joo Hyuk(손주혁) ORCID logo https://orcid.org/0000-0002-2303-2764
Lim, Sun Min(임선민)
Jeon, Min Kyung(전민경)
Cho, Young Up(조영업) ORCID logo https://orcid.org/0000-0003-2936-410X
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