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 Dec 24, 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

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Figure 1 Pedigree tree of the investigated family. Spouses, some of the unaffected and clinically undefined individuals are not presented in the figure. Co: colorectal cancer; VP: vater’s Papilla cancer; SB: small bowel cancer; En: endometrial cancer; St: stomach cancer; Br: breast cancer; Te: testicular GCT; Ad: adenoma; GCTST: germ cell tumor of the soft tissue; *healthy mutation carriers.

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Figure 2 Direct sequencing of the MLH1 exon 1, demonstrating the mutation c. 31delC. The arrow indicates the position of the C deletion.

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