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

Lone Sunde; Marie Luise Bisgaard; Helle Soll-Johanning; Niels Otto Jacobsen; Lars Bolund; Jan Skouv; Elsebeth Lynge

doi:10.3233/CBM-2009-0104

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

Lone Sunde, Marie Luise Bisgaard, Helle Soll-Johanning, Niels Otto Jacobsen, Lars Bolund, Jan Skouv, Elsebeth Lynge

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.

Original language	English
Journal	Cancer biomarkers : section A of Disease markers
Volume	5
Issue number	4
Pages (from-to)	197-205
Number of pages	8
DOIs	https://doi.org/10.3233/CBM-2009-0104
Publication status	Published - 2009

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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 et al.

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

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

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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",

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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.

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DO - 10.3233/CBM-2009-0104

M3 - Journal article

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JO - Cancer Biomarkers

JF - Cancer Biomarkers

IS - 4

ER -

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

Abstract

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