MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry

Henrik Okkels; Karen Lindorff-Larsen; Ole Thorlasius-Ussing; Mogens Vyberg; Jan Lindebjerg; Lone Sunde; Inge Bernstein; Louise Klarskov; Susanne Holck; Henrik Bygum Krarup

doi:10.1097/PAI.0b013e318249739b

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry

Henrik Okkels, Karen Lindorff-Larsen, Ole Thorlasius-Ussing, Mogens Vyberg, Jan Lindebjerg, Lone Sunde, Inge Bernstein, Louise Klarskov, Susanne Holck, Henrik Bygum Krarup

19 Citations (Scopus)

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition accounting for 2% to 4% of all colorectal cancer cases worldwide. Families with germ line mutations in 1 of 6 mismatch repair genes are known as Lynch syndrome families. The largest number of mutations has been detected in the mismatch repair genes MLH1 and MSH2, but several mutations in MSH6 have also been demonstrated.

Original language	English
Journal	Applied Immunohistochemistry & Molecular Morphology
Volume	20
Issue number	5
Pages (from-to)	470-477
Number of pages	8
ISSN	1541-2016
DOIs	https://doi.org/10.1097/PAI.0b013e318249739b
Publication status	Published - 2012

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Okkels, H., Lindorff-Larsen, K., Thorlasius-Ussing, O., Vyberg, M., Lindebjerg, J., Sunde, L., Bernstein, I., Klarskov, L., Holck, S., & Krarup, H. B. (2012). MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. Applied Immunohistochemistry & Molecular Morphology, 20(5), 470-477. https://doi.org/10.1097/PAI.0b013e318249739b

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. / Okkels, Henrik; Lindorff-Larsen, Karen; Thorlasius-Ussing, Ole et al.
In: Applied Immunohistochemistry & Molecular Morphology, Vol. 20, No. 5, 2012, p. 470-477.

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

Okkels, H, Lindorff-Larsen, K, Thorlasius-Ussing, O, Vyberg, M, Lindebjerg, J, Sunde, L, Bernstein, I, Klarskov, L, Holck, S & Krarup, HB 2012, 'MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry', Applied Immunohistochemistry & Molecular Morphology, vol. 20, no. 5, pp. 470-477. https://doi.org/10.1097/PAI.0b013e318249739b

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abstract = "Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition accounting for 2\% to 4\% of all colorectal cancer cases worldwide. Families with germ line mutations in 1 of 6 mismatch repair genes are known as Lynch syndrome families. The largest number of mutations has been detected in the mismatch repair genes MLH1 and MSH2, but several mutations in MSH6 have also been demonstrated.",

author = "Henrik Okkels and Karen Lindorff-Larsen and Ole Thorlasius-Ussing and Mogens Vyberg and Jan Lindebjerg and Lone Sunde and Inge Bernstein and Louise Klarskov and Susanne Holck and Krarup, \{Henrik Bygum\}",

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AU - Okkels, Henrik

AU - Lindorff-Larsen, Karen

AU - Thorlasius-Ussing, Ole

AU - Vyberg, Mogens

AU - Lindebjerg, Jan

AU - Sunde, Lone

AU - Bernstein, Inge

AU - Klarskov, Louise

AU - Holck, Susanne

AU - Krarup, Henrik Bygum

PY - 2012

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N2 - Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition accounting for 2% to 4% of all colorectal cancer cases worldwide. Families with germ line mutations in 1 of 6 mismatch repair genes are known as Lynch syndrome families. The largest number of mutations has been detected in the mismatch repair genes MLH1 and MSH2, but several mutations in MSH6 have also been demonstrated.

AB - Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition accounting for 2% to 4% of all colorectal cancer cases worldwide. Families with germ line mutations in 1 of 6 mismatch repair genes are known as Lynch syndrome families. The largest number of mutations has been detected in the mismatch repair genes MLH1 and MSH2, but several mutations in MSH6 have also been demonstrated.

UR - https://www.scopus.com/pages/publications/84866604260

U2 - 10.1097/PAI.0b013e318249739b

DO - 10.1097/PAI.0b013e318249739b

M3 - Journal article

C2 - 22495361

SN - 1541-2016

VL - 20

SP - 470

EP - 477

JO - Applied Immunohistochemistry & Molecular Morphology

JF - Applied Immunohistochemistry & Molecular Morphology

IS - 5

ER -

MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry

Abstract

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