Table 3.

Multivariable analysis for presence of any gene mutation (logistic regression) and by affected gene (polytomous logistic regression)

Predictors	Any mutation (n=525) OR [95% CI]	MLH1 (n=204) OR [95% CI]	MSH2 (n=250) OR [95% CI]	MSH6 (n=71) OR [95% CI]
Personal History
Unaffected	1.0	1.0	1.0	1.0
Male	1.9 [1.5–2.4]	2.0 [1.4–2.8]	1.9 [1.4–2.7]	1.7 [0.9–3.2]
1 CRC	4.3 [3.3–5.6]	5.1 [3.4–7.7]	4.5 [3.2–6.5]	2.1 [1.2–3.7]
> 2 CRC	13.7 [8.5–22]	17.0 [8.9–31.0]	14.0 [8.1–26.0]	5.4 [1.9–15.0]
Endometrial Cancer	6.1 [4.6–8.2]	4.0 [2.5–6.4]	7.2 [4.9–11.0]	7.2 [4.0–13.0]
Other LS Cancer	3.3 [2.4–4.6]	2.3 [1.4–4.0]	4.9 [3.3–7.3]	1.5 [0.7–3.2]
Family History
CRC
No family history of CRC	1.0	1.0	1.0	1.0
Presence of CRC in FDRs/SDRs*	2.9 [2.6–3.4]	3.3 [2.8–4.0]	3.3 [2.7–3.9]	1.2 [0.9–1.8]
Endometrial cancer
No family history of endometrial cancer	1.0	1.0	1.0	1.0
Presence of endometrial cancer in FDRs/SDRs*	2.9 [2.3–3.7]	2.6 [1.8–3.6]	2.8 [2.1–3.8]	3.1 [2.1–4.7]
Other LS cancers
No family history of other LS cancers	1.0	1.0	1.0	1.0
Presence of other LS cancers	1.4 [1.1–1.8]	1.1 [0.7–1.7]	1.4 [1.0–2.0]	1.7 [1.0–2.9]
Age at diagnosis
CRC [decade younger]	1.7 [1.6 – 1.8]	1.8 [1.6–2.0]	1.6 [1.5–1.8]	1.1 [1.0–1.3]
Endometrial cancer [decade younger]	1.1 [0.9 – 1.2]	1.0 [0.8–1.3]	1.2 [1.0–1.5]	0.9 [0.9–1.1]

CRC=colorectal cancer, LS=Lynch Syndrome, FDRs=first-degree relatives, SDRs=second-degree relatives, ROC=receiver operator characteristic

^*Family history was coded as 1*(#FDRs) + 0.5*(#SDRs). For CRC and endometrial cancer, #FDR coded as 0,1,2 for 0, 1, or at least 2 affected FDRs respectively, and #SDR coded as 0,1,2 for 0, 1, or at least 2 affected SDRs respectively. Family history could have values of 0 (for no affected relatives) to 3 (for 2 or more affected FDRs and SDRs). For other LS cancers, #FDR coded as 0, 1 for 0, or at least 1 affected FDR, and #SDR coded as 0,1 for 0, at least 1 affected SDR. Family history could have values of 0 (for no affected relatives) to 1.5 (for 1 or more affected FDRs and SDRs).