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. Author manuscript; available in PMC: 2015 Aug 20.
Published in final edited form as: Clin Genet. 2010 Dec 14;79(6):512–522. doi: 10.1111/j.1399-0004.2010.01594.x

Table 2.

Risk of colorectal and endometrial cancers among MSH6 exon 9 indel mutation carriers in an Ashkenazi Jewish population

Mutation Cases Controls OR 95%CI p-value
Colorectal cancer
c.3984_3987dupGTCA 8/2685 (0.3%) 1/3310 (0.03%) 9.9 1.2–78.9 0.0079
c.3962_3965delCAAG 3/2685 (0.1%) 0/3310 ∞ ∞ 0.0546
MSH6 exon 9 dup or del 11/2685 (0.4%) 1/3310 (0.03%) 13.6 1.8–105.1 0.0011
Endometrial cancer*
c.3984_3987dupGTCA 2/337 (0.6%) 1/3310 (0.03%) 19.6 1.8–217.2 0.0006
c.3962_3965delCAAG 2/337 (0.6%) 0/3310 ∞ ∞ <0.0001
MSH6 exon 9 dup or del 4/337 (1.2%) 1/3310 (0.03%) 39.3 4.4–352.5 <0.0001
*

Endometrial cancer risk was estimated from MSKCC hospital-based series.