Genome-wide screening of DNA copy number alterations in
cervical carcinoma patients with CGH+SNP microarrays and
HPV-FISH

J 2014

Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH

KUGLÍK, Petr, Jan SMETANA, Vladimíra VALLOVÁ, Lucie MOUKOVÁ, Kateřina KAŠÍKOVÁ et. al.

Basic information

Original name

Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH

Authors

KUGLÍK, Petr (203 Czech Republic, guarantor, belonging to the institution), Jan SMETANA (203 Czech Republic, belonging to the institution), Vladimíra VALLOVÁ (703 Slovakia, belonging to the institution), Lucie MOUKOVÁ (203 Czech Republic), Kateřina KAŠÍKOVÁ (203 Czech Republic, belonging to the institution), Michaela CVANOVÁ (203 Czech Republic, belonging to the institution) and Lucie BROŽOVÁ (203 Czech Republic, belonging to the institution)

Edition

International Journal of Clinical and Experimental Pathology, USA, e-Century Publishing Corporation, Madiso, 2014, 1936-2625

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.891

RIV identification code

RIV/00216224:14310/14:00078290

Organization unit

Faculty of Science

UT WoS

000345120900052

Keywords in English

Cervical carcinoma; whole-genome profiling; CGH+SNP microarrays; HPV-FISH; copy number alterations

Abstract

V originále

Alterations in the genome that lead to changes in DNA sequence copy number are characteristic features of solid tumors. We used CGH+SNP microarray and HPV-FISH techniques for detailed screening of copy number alterations (CNAs) in a cohort of 26 patients with cervical carcinoma (CC). This approach identified CNAs in 96.2% (25/26) of tumors. Array-CGH discovered CNAs in 73.1% (19/26) of samples, HPV-FISH experiments revealed CNAs in additional 23.1% (6/26) of samples. Common gains of genetic sequences were observed in 3q (50.0%), 1q (42.4%), 19q (23.1%), while losses were frequently found in 11q (30.8%), 4q (23.1%) and 13q (19.2%). Chromosomal regions involved in loss of heterozygosity were observed in 15.4% of samples in 8q21, 11q23, 14q21 and 18q12.2. Incidence of gain 3q was associated with HPV 16 and HPV 18 positive samples and simultaneous presence of gain 1q (P = 0.033). We did not found a correlation between incidence of CNAs identified by array-CGH and HPV strain infection and incidence of lymph node metastases. Subsequently, HPV-FISH was used for validation of array-CGH results in 23 patients for incidence of hTERC (3q26) and MYC (8q24) amplification. Using HPV-FISH, we found chromosomal lesions of hTERC in 87.0% and MYC in 65.2% of specimens. Our findings confirmed the important role of HPV infection and specific genomic alterations in the development of invasive cervical cancer. This study also indicates that CGH+SNP microarrays allow detecting genome-wide CNAs and copy-neutral loss of heterozygosity more precisely, however, it may be less sensitive than FISH in samples with low level clonal CNAs.

Links

EE2.3.20.0183, research and development project

Name: Centrum experimentální biomedicíny

NT11089, research and development project

Name: Diagnostický význam amplifikace genů hTERC a MYCC při vzniku a vývoji cervikálních intraepiteliálních dysplázií a karcinomu děložního hrdla

Citovat

KUGLÍK, Petr, Jan SMETANA, Vladimíra VALLOVÁ, Lucie MOUKOVÁ, Kateřina KAŠÍKOVÁ, Michaela CVANOVÁ and Lucie BROŽOVÁ. Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH. International Journal of Clinical and Experimental Pathology. USA: e-Century Publishing Corporation, Madiso, 2014, vol. 7, No 8, p. 5071-5082. ISSN 1936-2625.

@article{1216380,
   author = {Kuglík, Petr and Smetana, Jan and Vallová, Vladimíra and Mouková, Lucie and Kašíková, Kateřina and Cvanová, Michaela and Brožová, Lucie},
   article_location = {USA},
   article_number = {8},
   keywords = {Cervical carcinoma; whole-genome profiling; CGH+SNP microarrays; HPV-FISH; copy number alterations},
   language = {eng},
   issn = {1936-2625},
   journal = {International Journal of Clinical and Experimental Pathology},
   title = {Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH},
   url = {http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152070},
   volume = {7},
   year = {2014}
}

TY  - JOUR
ID  - 1216380
AU  - Kuglík, Petr - Smetana, Jan - Vallová, Vladimíra - Mouková, Lucie - Kašíková, Kateřina - Cvanová, Michaela - Brožová, Lucie
PY  - 2014
TI  - Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH
JF  - International Journal of Clinical and Experimental Pathology
VL  - 7
IS  - 8
SP  - 5071-5082
EP  - 5071-5082
PB  - e-Century Publishing Corporation, Madiso
SN  - 19362625
KW  - Cervical carcinoma
KW  - whole-genome profiling
KW  - CGH+SNP microarrays
KW  - HPV-FISH
KW  - copy number alterations
UR  - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152070
L2  - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152070
N2  - Alterations in the genome that lead to changes in DNA sequence copy number are characteristic features of solid tumors. We used CGH+SNP microarray and HPV-FISH techniques for detailed screening of copy number alterations (CNAs) in a cohort of 26 patients with cervical carcinoma (CC). This approach identified CNAs in 96.2% (25/26) of tumors. Array-CGH discovered CNAs in 73.1% (19/26) of samples, HPV-FISH experiments revealed CNAs in additional 23.1% (6/26) of samples. Common gains of genetic sequences were observed in 3q (50.0%), 1q (42.4%), 19q (23.1%), while losses were frequently found in 11q (30.8%), 4q (23.1%) and 13q (19.2%). Chromosomal regions involved in loss of heterozygosity were observed in 15.4% of samples in 8q21, 11q23, 14q21 and 18q12.2. Incidence of gain 3q was associated with HPV 16 and HPV 18 positive samples and simultaneous presence of gain 1q (P = 0.033). We did not found a correlation between incidence of CNAs identified by array-CGH and HPV strain infection and incidence of lymph node metastases. Subsequently, HPV-FISH was used for validation of array-CGH results in 23 patients for incidence of hTERC (3q26) and MYC (8q24) amplification. Using HPV-FISH, we found chromosomal lesions of hTERC in 87.0% and MYC in 65.2% of specimens. Our findings confirmed the important role of HPV infection and specific genomic alterations in the development of invasive cervical cancer. This study also indicates that CGH+SNP microarrays allow detecting genome-wide CNAs and copy-neutral loss of heterozygosity more precisely, however, it may be less sensitive than FISH in samples with low level clonal CNAs.
ER  -

KUGLÍK, Petr, Jan SMETANA, Vladimíra VALLOVÁ, Lucie MOUKOVÁ, Kateřina KAŠÍKOVÁ, Michaela CVANOVÁ and Lucie BROŽOVÁ. Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH. \textit{International Journal of Clinical and Experimental Pathology}. USA: e-Century Publishing Corporation, Madiso, 2014, vol.~7, No~8, p.~5071-5082. ISSN~1936-2625.

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