High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer

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High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer. / Wiechec, Emilia; Wiuf, Carsten; Overgaard, Jens; Hansen, Lise Lotte.

In: Cancer Epidemiology Biomarkers and Prevention, Vol. 20, No. 2, 01.02.2011, p. 397-407.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Wiechec, E, Wiuf, C, Overgaard, J & Hansen, LL 2011, 'High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer', Cancer Epidemiology Biomarkers and Prevention, vol. 20, no. 2, pp. 397-407. https://doi.org/10.1158/1055-9965.EPI-10-0514

APA

Wiechec, E., Wiuf, C., Overgaard, J., & Hansen, L. L. (2011). High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer. Cancer Epidemiology Biomarkers and Prevention, 20(2), 397-407. https://doi.org/10.1158/1055-9965.EPI-10-0514

Vancouver

Wiechec E, Wiuf C, Overgaard J, Hansen LL. High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer. Cancer Epidemiology Biomarkers and Prevention. 2011 Feb 1;20(2):397-407. https://doi.org/10.1158/1055-9965.EPI-10-0514

Author

Wiechec, Emilia ; Wiuf, Carsten ; Overgaard, Jens ; Hansen, Lise Lotte. / High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer. In: Cancer Epidemiology Biomarkers and Prevention. 2011 ; Vol. 20, No. 2. pp. 397-407.

Bibtex

@article{5d37020ae05847448d51965893fa8c7f,
title = "High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer",
abstract = "Background: Identification of specific mutation targets in cancer may lead to discovery of the genes modulating cancer susceptibility and/or prognosis. The RGSL1, RGS16, and RGS8 genes within the 1q25.3 region belong to the novel family of regulators of G protein signaling (RGS) genes, which increase the GTPase activity of the Ga subunit to attenuate signaling from the G protein-coupled receptor. We evaluated the use of high-resolution melting (HRM) to screen for mutations in the genes of interest and assess their clinical significance. Methods: The HRM analysis was used to screen 32 coding exons of RGSL1, RGS16, and RGS8 in tumors from 200 breast cancer patients. All sequence variants detected by HRM resulted in abnormal shape of the melting curves. The identified mutations and known single nucleotide polymorphisms (SNP) were subsequently confirmed by sequencing, and distribution of the SNP genotypes was determined by SNaPshot analysis. A case-control analysis of genotype frequencies was carried out. Results: We identified three tumor specific missense mutations in RGSL1 (ex6 c.664 G>A (Val222Ile), ex13 c.2262 C>G (Asp754Glu), and ex13 c.2316 C>T (Ser772Leu) in three different breast cancer patients. In addition, a total of seven known SNPs were identified in this study. Genotype distributions were not significantly different between breast cancer patients and controls. Conclusions and Impact: Identification of novel mutations within RGSL1 provides a new insight into the pathophysiology of breast cancer. Moreover, the HRM analysis represents a reliable and highly sensitive method for mutation scanning of multiple exons.",
author = "Emilia Wiechec and Carsten Wiuf and Jens Overgaard and Hansen, {Lise Lotte}",
year = "2011",
month = feb,
day = "1",
doi = "10.1158/1055-9965.EPI-10-0514",
language = "English",
volume = "20",
pages = "397--407",
journal = "Cancer Epidemiology, Biomarkers & Prevention",
issn = "1055-9965",
publisher = "American Association for Cancer Research (A A C R)",
number = "2",

}

RIS

TY - JOUR

T1 - High-resolution melting analysis for mutation screening of RGSL1, RGS16, and RGS8 in breast cancer

AU - Wiechec, Emilia

AU - Wiuf, Carsten

AU - Overgaard, Jens

AU - Hansen, Lise Lotte

PY - 2011/2/1

Y1 - 2011/2/1

N2 - Background: Identification of specific mutation targets in cancer may lead to discovery of the genes modulating cancer susceptibility and/or prognosis. The RGSL1, RGS16, and RGS8 genes within the 1q25.3 region belong to the novel family of regulators of G protein signaling (RGS) genes, which increase the GTPase activity of the Ga subunit to attenuate signaling from the G protein-coupled receptor. We evaluated the use of high-resolution melting (HRM) to screen for mutations in the genes of interest and assess their clinical significance. Methods: The HRM analysis was used to screen 32 coding exons of RGSL1, RGS16, and RGS8 in tumors from 200 breast cancer patients. All sequence variants detected by HRM resulted in abnormal shape of the melting curves. The identified mutations and known single nucleotide polymorphisms (SNP) were subsequently confirmed by sequencing, and distribution of the SNP genotypes was determined by SNaPshot analysis. A case-control analysis of genotype frequencies was carried out. Results: We identified three tumor specific missense mutations in RGSL1 (ex6 c.664 G>A (Val222Ile), ex13 c.2262 C>G (Asp754Glu), and ex13 c.2316 C>T (Ser772Leu) in three different breast cancer patients. In addition, a total of seven known SNPs were identified in this study. Genotype distributions were not significantly different between breast cancer patients and controls. Conclusions and Impact: Identification of novel mutations within RGSL1 provides a new insight into the pathophysiology of breast cancer. Moreover, the HRM analysis represents a reliable and highly sensitive method for mutation scanning of multiple exons.

AB - Background: Identification of specific mutation targets in cancer may lead to discovery of the genes modulating cancer susceptibility and/or prognosis. The RGSL1, RGS16, and RGS8 genes within the 1q25.3 region belong to the novel family of regulators of G protein signaling (RGS) genes, which increase the GTPase activity of the Ga subunit to attenuate signaling from the G protein-coupled receptor. We evaluated the use of high-resolution melting (HRM) to screen for mutations in the genes of interest and assess their clinical significance. Methods: The HRM analysis was used to screen 32 coding exons of RGSL1, RGS16, and RGS8 in tumors from 200 breast cancer patients. All sequence variants detected by HRM resulted in abnormal shape of the melting curves. The identified mutations and known single nucleotide polymorphisms (SNP) were subsequently confirmed by sequencing, and distribution of the SNP genotypes was determined by SNaPshot analysis. A case-control analysis of genotype frequencies was carried out. Results: We identified three tumor specific missense mutations in RGSL1 (ex6 c.664 G>A (Val222Ile), ex13 c.2262 C>G (Asp754Glu), and ex13 c.2316 C>T (Ser772Leu) in three different breast cancer patients. In addition, a total of seven known SNPs were identified in this study. Genotype distributions were not significantly different between breast cancer patients and controls. Conclusions and Impact: Identification of novel mutations within RGSL1 provides a new insight into the pathophysiology of breast cancer. Moreover, the HRM analysis represents a reliable and highly sensitive method for mutation scanning of multiple exons.

UR - http://www.scopus.com/inward/record.url?scp=79951588064&partnerID=8YFLogxK

U2 - 10.1158/1055-9965.EPI-10-0514

DO - 10.1158/1055-9965.EPI-10-0514

M3 - Journal article

C2 - 21135262

AN - SCOPUS:79951588064

VL - 20

SP - 397

EP - 407

JO - Cancer Epidemiology, Biomarkers & Prevention

JF - Cancer Epidemiology, Biomarkers & Prevention

SN - 1055-9965

IS - 2

ER -

ID: 203900198