PMID- 32448168
OWN - NLM
STAT- MEDLINE
DCOM- 20210202
LR  - 20210202
IS  - 1471-2407 (Electronic)
IS  - 1471-2407 (Linking)
VI  - 20
IP  - 1
DP  - 2020 May 24
TI  - LRIG1 gene copy number analysis by ddPCR and correlations to clinical factors in 
      breast cancer.
PG  - 459
LID - 10.1186/s12885-020-06919-w [doi]
LID - 459
AB  - BACKGROUND: Leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1) copy 
      number alterations and unbalanced gene recombination events have been reported to 
      occur in breast cancer. Importantly, LRIG1 loss was recently shown to predict 
      early and late relapse in stage I-II breast cancer. METHODS: We developed droplet 
      digital PCR (ddPCR) assays for the determination of relative LRIG1 copy numbers 
      and used these assays to analyze LRIG1 in twelve healthy individuals, 34 breast 
      tumor samples previously analyzed by fluorescence in situ hybridization (FISH), 
      and 423 breast tumor cytosols. RESULTS: Four of the LRIG1/reference gene assays 
      were found to be precise and robust, showing copy number ratios close to 1 (mean, 
      0.984; standard deviation, +/- 0.031) among the healthy control population. The 
      correlation between the ddPCR assays and previous FISH results was low, possibly 
      because of the different normalization strategies used. One in 34 breast tumors 
      (2.9%) showed an unbalanced LRIG1 recombination event. LRIG1 copy number ratios 
      were associated with the breast cancer subtype, steroid receptor status, ERBB2 
      status, tumor grade, and nodal status. Both LRIG1 loss and gain were associated 
      with unfavorable metastasis-free survival; however, they did not remain 
      significant prognostic factors after adjustment for common risk factors in the 
      Cox regression analysis. Furthermore, LRIG1 loss was not significantly associated 
      with survival in stage I and II cases. CONCLUSIONS: Although LRIG1 gene 
      aberrations may be important determinants of breast cancer biology, and 
      prognostic markers, the results of this study do not verify an important role for 
      LRIG1 copy number analyses in predicting the risk of relapse in early-stage 
      breast cancer.
FAU - Faraz, Mahmood
AU  - Faraz M
AD  - Department of Radiation Sciences, Oncology, Umea University, SE-90187, Umea, 
      Sweden.
FAU - Tellstrom, Andreas
AU  - Tellstrom A
AD  - Department of Radiation Sciences, Oncology, Umea University, SE-90187, Umea, 
      Sweden.
FAU - Ardnor, Christina Edwinsdotter
AU  - Ardnor CE
AD  - Department of Radiation Sciences, Oncology, Umea University, SE-90187, Umea, 
      Sweden.
FAU - Grankvist, Kjell
AU  - Grankvist K
AD  - Department of Medical Biosciences, Umea University, SE-90187, Umea, Sweden.
FAU - Huminiecki, Lukasz
AU  - Huminiecki L
AD  - National Bioinformatics Infrastructure Sweden, SciLifeLab, Uppsala, Sweden.
AD  - Current address: Instytut Genetyki i Hodowli Zwierzat Polskiej Akademii Nauk, ul. 
      Postepu 36A, 05-552, Jastrzebiec, Magdalenka, Poland.
FAU - Tavelin, Bjorn
AU  - Tavelin B
AD  - Department of Radiation Sciences, Oncology, Umea University, SE-90187, Umea, 
      Sweden.
FAU - Henriksson, Roger
AU  - Henriksson R
AD  - Department of Radiation Sciences, Oncology, Umea University, SE-90187, Umea, 
      Sweden.
FAU - Hedman, Hakan
AU  - Hedman H
AD  - Department of Radiation Sciences, Oncology, Umea University, SE-90187, Umea, 
      Sweden.
FAU - Ljuslinder, Ingrid
AU  - Ljuslinder I
AUID- ORCID: 0000-0002-5046-1820
AD  - Department of Radiation Sciences, Oncology, Umea University, SE-90187, Umea, 
      Sweden. ingrid.ljuslinder@umu.se.
LA  - eng
GR  - LP 16 2139/Cancer Research Foundation in Northern Sweden/
PT  - Journal Article
DEP - 20200524
PL  - England
TA  - BMC Cancer
JT  - BMC cancer
JID - 100967800
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (LRIG1 protein, human)
RN  - 0 (Membrane Glycoproteins)
RN  - EC 2.7.10.1 (Receptor, ErbB-2)
SB  - IM
MH  - Biomarkers, Tumor/*genetics
MH  - Breast Neoplasms/genetics/*pathology/surgery
MH  - Case-Control Studies
MH  - Female
MH  - Follow-Up Studies
MH  - *Gene Dosage
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Membrane Glycoproteins/*genetics
MH  - Middle Aged
MH  - Neoplasm Recurrence, Local/genetics/*pathology/surgery
MH  - Polymerase Chain Reaction/*methods
MH  - Prognosis
MH  - Receptor, ErbB-2/*genetics
MH  - Survival Rate
PMC - PMC7245921
OTO - NOTNLM
OT  - Breast cancer
OT  - Gene copy number
OT  - LRIG1
OT  - Prognosis
OT  - ddPCR
COIS- The authors declare that they have no competing interests.
EDAT- 2020/05/26 06:00
MHDA- 2021/02/03 06:00
PMCR- 2020/05/24
CRDT- 2020/05/26 06:00
PHST- 2019/12/13 00:00 [received]
PHST- 2020/04/30 00:00 [accepted]
PHST- 2020/05/26 06:00 [entrez]
PHST- 2020/05/26 06:00 [pubmed]
PHST- 2021/02/03 06:00 [medline]
PHST- 2020/05/24 00:00 [pmc-release]
AID - 10.1186/s12885-020-06919-w [pii]
AID - 6919 [pii]
AID - 10.1186/s12885-020-06919-w [doi]
PST - epublish
SO  - BMC Cancer. 2020 May 24;20(1):459. doi: 10.1186/s12885-020-06919-w.