Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study

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Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study. / Sunde, Lone; Bisgaard, Marie Luise; Soll-Johanning, Helle; Jacobsen, Niels Otto; Bolund, Lars; Skouv, Jan; Lynge, Elsebeth.

In: Cancer biomarkers : section A of Disease markers, Vol. 5, No. 4, 2009, p. 197-205.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Sunde, L, Bisgaard, ML, Soll-Johanning, H, Jacobsen, NO, Bolund, L, Skouv, J & Lynge, E 2009, 'Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study', Cancer biomarkers : section A of Disease markers, vol. 5, no. 4, pp. 197-205. https://doi.org/10.3233/CBM-2009-0104

APA

Sunde, L., Bisgaard, M. L., Soll-Johanning, H., Jacobsen, N. O., Bolund, L., Skouv, J., & Lynge, E. (2009). Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study. Cancer biomarkers : section A of Disease markers, 5(4), 197-205. https://doi.org/10.3233/CBM-2009-0104

Vancouver

Sunde L, Bisgaard ML, Soll-Johanning H, Jacobsen NO, Bolund L, Skouv J et al. Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study. Cancer biomarkers : section A of Disease markers. 2009;5(4):197-205. https://doi.org/10.3233/CBM-2009-0104

Author

Sunde, Lone ; Bisgaard, Marie Luise ; Soll-Johanning, Helle ; Jacobsen, Niels Otto ; Bolund, Lars ; Skouv, Jan ; Lynge, Elsebeth. / Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study. In: Cancer biomarkers : section A of Disease markers. 2009 ; Vol. 5, No. 4. pp. 197-205.

Bibtex

@article{76a76630b19111debc73000ea68e967b,
title = "Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study",
abstract = "Colonoscopy is recommended for persons with a familial risk of colorectal cancer (CRC). A familial risk is identified by a family history with CRC and/or predisposing mutation(s). However, such information may not be available. We analysed whether MSI (MicroSatellite Instability) and/or CIN (Chromosome INstability=LOH (loss of heterozygosity) and/or DNA-aneuploidy (abnormal nuclear DNA contents)) could be used as predictors of familial CRC. Formalin-fixed tissue from 97 patients with CRC (29 patients with 2 or more affected first-degree relatives (={"}cases{"}), 29 matched CRC controls without a family history, and 39 relatives to cases) were analysed for MSI and CIN. In this small case-control study, no significant differences in the frequencies of MSI and CIN were observed between cases with a family history and their controls without a family history. MSI+;CIN- was observed in 6/29 cases and in 0/29 controls (p=0.02), most frequently in cases with affected siblings, only (3/7). However, for 13 patients from whom several CRC tumours were analysed, concordant results for MSI/LOH/DNA-ploidy were obtained only in 10/9/9. Among cases and relative(s), concordant results for MSI, LOH and DNA-ploidy were obtained in 16/26, 16/26, and 14/25 families, respectively.Although MSI+;CIN- appeared to predict familial CRC with a high specificity, neither MSI, CIN, or MSI+;CIN- are likely to be sufficiently sensitive predictors of familial CRC.",
author = "Lone Sunde and Bisgaard, {Marie Luise} and Helle Soll-Johanning and Jacobsen, {Niels Otto} and Lars Bolund and Jan Skouv and Elsebeth Lynge",
year = "2009",
doi = "10.3233/CBM-2009-0104",
language = "English",
volume = "5",
pages = "197--205",
journal = "Cancer Biomarkers",
issn = "1574-0153",
publisher = "I O S Press",
number = "4",

}

RIS

TY - JOUR

T1 - Familial colorectal cancer, can it be identified by microsatellite instability and chromosomal instability? - A case-control study

AU - Sunde, Lone

AU - Bisgaard, Marie Luise

AU - Soll-Johanning, Helle

AU - Jacobsen, Niels Otto

AU - Bolund, Lars

AU - Skouv, Jan

AU - Lynge, Elsebeth

PY - 2009

Y1 - 2009

N2 - Colonoscopy is recommended for persons with a familial risk of colorectal cancer (CRC). A familial risk is identified by a family history with CRC and/or predisposing mutation(s). However, such information may not be available. We analysed whether MSI (MicroSatellite Instability) and/or CIN (Chromosome INstability=LOH (loss of heterozygosity) and/or DNA-aneuploidy (abnormal nuclear DNA contents)) could be used as predictors of familial CRC. Formalin-fixed tissue from 97 patients with CRC (29 patients with 2 or more affected first-degree relatives (="cases"), 29 matched CRC controls without a family history, and 39 relatives to cases) were analysed for MSI and CIN. In this small case-control study, no significant differences in the frequencies of MSI and CIN were observed between cases with a family history and their controls without a family history. MSI+;CIN- was observed in 6/29 cases and in 0/29 controls (p=0.02), most frequently in cases with affected siblings, only (3/7). However, for 13 patients from whom several CRC tumours were analysed, concordant results for MSI/LOH/DNA-ploidy were obtained only in 10/9/9. Among cases and relative(s), concordant results for MSI, LOH and DNA-ploidy were obtained in 16/26, 16/26, and 14/25 families, respectively.Although MSI+;CIN- appeared to predict familial CRC with a high specificity, neither MSI, CIN, or MSI+;CIN- are likely to be sufficiently sensitive predictors of familial CRC.

AB - Colonoscopy is recommended for persons with a familial risk of colorectal cancer (CRC). A familial risk is identified by a family history with CRC and/or predisposing mutation(s). However, such information may not be available. We analysed whether MSI (MicroSatellite Instability) and/or CIN (Chromosome INstability=LOH (loss of heterozygosity) and/or DNA-aneuploidy (abnormal nuclear DNA contents)) could be used as predictors of familial CRC. Formalin-fixed tissue from 97 patients with CRC (29 patients with 2 or more affected first-degree relatives (="cases"), 29 matched CRC controls without a family history, and 39 relatives to cases) were analysed for MSI and CIN. In this small case-control study, no significant differences in the frequencies of MSI and CIN were observed between cases with a family history and their controls without a family history. MSI+;CIN- was observed in 6/29 cases and in 0/29 controls (p=0.02), most frequently in cases with affected siblings, only (3/7). However, for 13 patients from whom several CRC tumours were analysed, concordant results for MSI/LOH/DNA-ploidy were obtained only in 10/9/9. Among cases and relative(s), concordant results for MSI, LOH and DNA-ploidy were obtained in 16/26, 16/26, and 14/25 families, respectively.Although MSI+;CIN- appeared to predict familial CRC with a high specificity, neither MSI, CIN, or MSI+;CIN- are likely to be sufficiently sensitive predictors of familial CRC.

U2 - 10.3233/CBM-2009-0104

DO - 10.3233/CBM-2009-0104

M3 - Journal article

C2 - 19729829

VL - 5

SP - 197

EP - 205

JO - Cancer Biomarkers

JF - Cancer Biomarkers

SN - 1574-0153

IS - 4

ER -

ID: 14912409