PMID- 36571590
OWN - NLM
STAT- MEDLINE
DCOM- 20230117
LR  - 20230117
IS  - 1618-2650 (Electronic)
IS  - 1618-2642 (Linking)
VI  - 415
IP  - 4
DP  - 2023 Feb
TI  - Establishment and evaluation of digital PCR methods for HER2 copy number 
      variation in breast cancer.
PG  - 725-733
LID - 10.1007/s00216-022-04466-w [doi]
AB  - Accurate measurement of human epidermal growth factor receptor 2 (HER2) copy 
      number variation (CNV) is very important for guiding the tumor target therapy in 
      breast cancer. Digital PCR (dPCR) is a sensitive and an absolute quantitative 
      method, which can be used to detect HER2 CNV. Three HER2 exon-specific digital 
      PCR assays along with three new reference genes assays (homo sapiens ribonuclease 
      P RNA component H1 (RPPH1), glucose-6-phosphate isomerase (GPI), and chromosome 1 
      open reading frame 43 (C1ORF43), on different chromosomes) were established and 
      validated by using standard reference material, 8 different cell lines and 110 
      clinical Formalin-fixed and paraffin-embedded (FFPE) samples. DPCR can achieve 
      precise quantification of HER2 CNV by calculating the ratio of HER2/reference 
      gene. The positive and negative coincidence rates were 98% (53/54) and 95% 
      (53/56), respectively, compared with fluorescence in situ hybridization (FISH) 
      diagnostic result 110 of FFPE samples. The common reference gene CEP17 used for 
      FISH diagnostic was not suitable as single reference gene for HER2 CNV 
      measurements by dPCR. The best practice of HER2 CNV determination by dPCR is to 
      conduct the three duplex assays of H1 (HER2 exon 4) with the proposed three new 
      reference genes, with a positive cut-off value of H1/RPPH1 >/= 2.0 or H1/averaged 
      reference gene >/= 2.0. The proposed dPCR method in our study can accurately 
      provide absolute copy number of HER2 and reference gene on an alternative 
      chromosome, thus avoiding false negative caused by polysomy of chromosome 17. The 
      improved molecular typing and diagnosis of breast cancer will better guide 
      clinical medication.
CI  - (c) 2022. Springer-Verlag GmbH Germany, part of Springer Nature.
FAU - Wang, Xia
AU  - Wang X
AD  - Center for Advanced Measurement Science, National Institute of Metrology, 
      Beijing, China.
FAU - Xing, Dechun
AU  - Xing D
AD  - Center for Advanced Measurement Science, National Institute of Metrology, 
      Beijing, China.
FAU - Liu, Zheng
AU  - Liu Z
AD  - Center for Advanced Measurement Science, National Institute of Metrology, 
      Beijing, China.
FAU - Zhang, Yujing
AU  - Zhang Y
AD  - Center for Advanced Measurement Science, National Institute of Metrology, 
      Beijing, China.
FAU - Cheng, Bo
AU  - Cheng B
AD  - Chinese People's Liberation Army Rocket Force Characteristic Medical Center, 
      Beijing, China.
FAU - Sun, Suozhu
AU  - Sun S
AD  - Chinese People's Liberation Army Rocket Force Characteristic Medical Center, 
      Beijing, China.
FAU - Wang, Qingtao
AU  - Wang Q
AD  - Beijing Chaoyang Hospital, the Third Clinical Medical College of Capital Medical 
      University, Beijing, China.
FAU - Dong, Lianhua
AU  - Dong L
AD  - Center for Advanced Measurement Science, National Institute of Metrology, 
      Beijing, China. donglh@nim.ac.cn.
LA  - eng
GR  - AKYZD2202/National Institute of Metrology, P.R. China/
GR  - 2017YFF0204605/National Science & Technology Pillar Program/
PT  - Journal Article
DEP - 20221226
PL  - Germany
TA  - Anal Bioanal Chem
JT  - Analytical and bioanalytical chemistry
JID - 101134327
RN  - EC 2.7.10.1 (Receptor, ErbB-2)
SB  - IM
MH  - Humans
MH  - Female
MH  - *Breast Neoplasms/pathology
MH  - DNA Copy Number Variations
MH  - In Situ Hybridization, Fluorescence
MH  - Receptor, ErbB-2/genetics/metabolism
MH  - Polymerase Chain Reaction/methods
MH  - Genes, erbB-2
OTO - NOTNLM
OT  - Breast cancer
OT  - Copy number variation (CNV)
OT  - Digital PCR (dPCR)
OT  - HER2
OT  - Reference gene
EDAT- 2022/12/27 06:00
MHDA- 2023/01/18 06:00
CRDT- 2022/12/26 11:12
PHST- 2022/10/06 00:00 [received]
PHST- 2022/11/24 00:00 [accepted]
PHST- 2022/11/20 00:00 [revised]
PHST- 2022/12/27 06:00 [pubmed]
PHST- 2023/01/18 06:00 [medline]
PHST- 2022/12/26 11:12 [entrez]
AID - 10.1007/s00216-022-04466-w [pii]
AID - 10.1007/s00216-022-04466-w [doi]
PST - ppublish
SO  - Anal Bioanal Chem. 2023 Feb;415(4):725-733. doi: 10.1007/s00216-022-04466-w. Epub 
      2022 Dec 26.