Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family

doi:10.3748/wjg.v12.i48.7848

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Dec 28, 2006 (publication date) through Apr 26, 2024

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Dec 28, 2006; 12(48): 7848-7851
Published online Dec 28, 2006. doi: 10.3748/wjg.v12.i48.7848

Table 1 Diagnosis, microsatellite instability, c.31delC mutation and immunohistochemical analysis of ten affected and six healthy at risk relatives in the hereditary non-polyposis colorectal cancer (HNPCC) family

Familymember	Diagnosis	Histologicaldata	MSIAnalysis	c.31delCmutation	MLH1expression
II-1	Colon carcinoma	NT	NT	No	NT
II-3	Colon carcinoma	+	NT	NT	NT
III-6	Colon carcinoma	+	NT	NT	NT
III-7	Colon carcinoma	+	MSI	Yes	NS
III-8	Endometrial carcinoma	+	NT	Yes	NT
III-12	Healthy, at risk	NT	NT	Yes	NT
IV-13	Healthy, at risk	NT	NT	Yes	NT
IV-14	Colon carcinoma	+	MSI	Yes	NS
IV-15	Tubulovillous Adenoma	+	MSS	Yes	PS
IV-16	Healthy, at risk	NT	NT	No	NT
IV-17	Healthy, at risk	NT	NT	Yes	NT
IV-18	Colon carcinoma	+	NT	Yes	NT
IV-19	Healthy, at risk	NT	NT	No	NT
IV-20	Healthy, at risk	NT	NT	No	NT
IV-21	Mixed germ cell tumor	+	NT	NT	NT
IV-22	Colon carcinoma	+	MSI	Yes	NS

NT: not tested; +: available; MSI: microsatellite instability of the tumor; MSS: microsatellite stability of the tumor; Yes: mutation was present; No: mutation was absent; PS: positive staining; NS: negative staining.

Citation: Kadiyska TK, Kaneva RP, Nedin DG, Alexandrova AB, Gegova AТ, Lalchev SG, Christova T, Mitev VI, Horst J, Bogdanova N, Kremensky IM. Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family. World J Gastroenterol 2006; 12(48): 7848-7851
URL: https://www.wjgnet.com/1007-9327/full/v12/i48/7848.htm
DOI: https://dx.doi.org/10.3748/wjg.v12.i48.7848