Table 1.

Characteristicsa of DNA MMR gene germline mutation carriers

No colorectal cancerColorectal cancerTotal
N = 1,156 (60%)N = 769 (40%)N = 1,925
Sex
 Female725 (62.7)352 (45.8)1,077 (56.0)
 Male431 (37.3)417 (54.2)848 (44.1)
Study centers, n (%)
 Australia or New Zealand670 (58.0)365 (47.5)1,035 (53.8)
 USA326 (28.2)286 (37.2)612 (31.8)
 Canada160 (13.8)118 (15.3)278 (14.4)
Race
 Caucasian1,093 (94.6)693 (90.1)1,786 (92.8)
 Other41 (3.6)64 (8.3)105 (5.5)
 Missing22 (1.9)12 (1.6)34 (1.8)
Ascertainment method
 Clinic915 (79.2)510 (66.3)1,425 (74.0)
 Population241 (20.9)259 (33.7)500 (26.0)
Age (year)b
 Mean (SD)41.9 (12.8)42.6 (10.3)42.2 (11.9)
 Median (range)41 (20–85)43 (20–75)42 (20–85)
Year of birth, n (%)
 1914–1945256 (22.2)234 (30.4)490 (25.5)
 1946–1955283 (24.5)234 (30.4)517 (26.9)
 1956–1965259 (22.4)192 (25.0)451 (23.4)
 1966–1990258 (31.0)109 (14.2)467 (24.3)
Education level, n (%)
 Some high school or less237 (20.5)180 (23.4)417 (21.7)
 Completed high school/some tertiary study387 (33.5)259 (33.7)646 (33.6)
 Vocational/technical school209 (18.1)127 (16.5)336 (17.5)
 University degree318 (27.5)196 (25.5)514 (26.7)
 Missing5 (0.4)7 (0.9)12 (0.6)
MMR gene mutated, n (%)
MLH1381 (33.0)333 (43.3)714 (37.1)
MSH2571 (49.4)327 (42.5)898 (46.7)
MSH6151 (13.1)64 (8.3)215 (11.2)
PMS253 (4.6)45 (5.9)98 (5.1)
BMI at age 20,cn (%)
 Normal788 (68.2)489 (63.6)1,277 (66.3)
 Overweight183 (15.8)149 (19.4)332 (17.3)
 Obese46 (4.0)42 (5.5)88 (4.6)
 Underweight101 (8.7)61 (7.9)162 (8.4)
 Missing38 (3.3)28 (3.6)66 (3.4)
BMI 2 years before diagnosed/censored age,c,dn (%)
 Normal338 (29.2)91 (11.8)429 (22.3)
 Overweight224 (19.4)114 (14.8)338 (17.6)
 Obese113 (9.8)60 (7.8)173 (9.0)
 Underweight21 (1.8)7 (0.9)28 (1.5)
 Missing460 (39.8)497 (64.6)957 (49.7)
Number of received sigmoidoscopy or colonoscopy, n (%)
 0380 (32.9)185 (24.1)565 (29.4)
 1266 (23.0)227 (29.5)493 (25.6)
 2128 (11.1)31 (4.0)159 (8.3)
 3 or more138 (11.9)49 (6.4)187 (9.7)
 Missing244 (21.1)277 (36.0)521 (27.1)
Diabetes, n (%)
 No1,117 (96.6)727 (94.5)1,844 (95.8)
 Yes33 (2.9)34 (4.4)67 (3.5)
 Missing6 (0.5)8 (1.0)14 (0.7)
Aspirin and/or ibuprofen intake,bn (%)
 <1 month903 (78.1)632 (82.2)1,535 (79.7)
 ≥1 month190 (16.4)95 (12.4)285 (14.8)
 Missing63 (5.5)42 (5.5)105 (5.5)
Multivitamin supplement intake,bn (%)
 <1 month789 (68.3)584 (75.9)1,373 (71.3)
 ≥1 month309 (26.7)141 (18.3)450 (23.4)
 Missing58 (5.0)44 (5.7)102 (5.3)
Calcium supplement intake,bn (%)
 <1 month991 (85.7)702 (91.3)1,693 (88.0)
 ≥1 month121 (10.5)48 (6.2)169 (8.8)
 Missing44 (3.8)19 (2.5)63 (3.3)
Folic acid supplement intake,bn (%)
 <1 month1,012 (87.5)709 (92.2)1,721 (89.4)
 ≥1 month112 (9.7)39 (5.1)151 (7.8)
 Missing32 (2.8)21 (2.7)53 (2.8)
Cigarette smoking,cn (%)
 Never624 (54.0)345 (44.9)969 (50.3)
 Former262 (22.7)160 (20.8)422 (21.9)
 Current267 (23.1)262 (34.1)529 (27.5)
 Missing3 (0.3)2 (0.3)5 (0.3)
Regular physical activity,dn (%)
 <3 months51 (4.4)47 (6.1)98 (5.1)
 ≥3 months1,074 (92.9)691 (89.9)1,765 (91.7)
 Missing31 (2.7)31 (4.0)62 (3.2)
Fruit and vegetable intake (servings/day) 2 years before diagnosed/censored age,e,fn (%)
 <2190 (16.4)111 (14.4)301 (15.6)
 2.01–3129 (11.2)45 (5.9)174 (9.0)
 3.01–4134 (11.6)47 (6.1)181 (9.4)
 ≥4.01256 (22.2)67 (8.7)323 (16.8)
 Missing447 (38.7)499 (64.9)946 (49.1)
Red meat intake (servings/day 2 years before diagnosed/censored age),f,gn (%)
 <0.30211 (18.3)88 (11.4)299 (15.5)
 0.31–0.60240 (20.8)83 (10.8)323 (16.8)
 0.61–0.90102 (8.8)45 (5.9)147 (7.6)
 ≥0.91 or more153 (13.2)55 (7.2)208 (10.8)
 Missing450 (38.9)498 (64.8)948 (49.3)
Number of live births,hn (%)
 No198 (27.3)66 (18.8)264 (24.5)
 176 (10.5)51 (14.5)127 (11.8)
 2204 (28.1)96 (27.3)300 (27.9)
 ≥3227 (31.3)126 (35.8)353 (32.8)
 Missing20 (2.8)13 (3.7)33(3.1)
Hormonal contraception use,hn (%)
 <1 year187 (25.8)100 (28.4)287 (26.7)
 ≥1 year527 (72.7)240 (68.2)767 (71.2)
 Missing11 (1.5)12 (3.4)23 (2.1)
Menopause status,hn (%)
 Pre-menopause481 (66.3)230 (65.3)711 (66.0)
 Pre-menopause213 (29.3)112 (31.9)325 (30.2)
 Missing31 (4.3)10 (2.8)41 (3.8)
  • aAt the time of colorectal cancer diagnosis or age of another cancer, or polypectomy, or interview for colorectal cancer-unaffected participants (whichever came first).

  • bAge of diagnosis of colorectal cancer for affected participants; age of diagnosis of another cancer or polypectomy or interview for colorectal cancer-unaffected participants (whichever came first).

  • cBody mass index (BMI) calculated as weight in kilograms divided by height in meters squared. Underweight (<18.5), normal (18.5–24.9), overweight (25.0–29.9), obese (≥30).

  • dCarriers who were diagnosed with colorectal cancer or censored more than 2 years before interview had missing for this variable.

  • bAt least twice a week.

  • cFormer smokers defined as carriers who had smoked at least 1 cigarette per day for at least 3 months and had quit more than 2 years before age at colorectal cancer or censored age; current smokers defined as carriers who had smoked at least 1 cigarette per day for at least 3 months and continued within 2 years of age at colorectal cancer or censored age.

  • dRegular physical activity defined as any physical activity for at least 30 minutes per week for at least 3 months.

  • eA serving of fruit defined as 1 medium fresh fruit, or ½ cup of chopped, cooked, or canned fruit, or ¼ cup of dried fruit, or 6 ounce of fruit juice; a serving of vegetable defined as 1 cup raw leafy vegetables, or ½ cup of other vegetables, or cooked or chopped raw, 6 ounces of vegetable juice.

  • fCarriers who were diagnosed with colorectal cancer or censored more than 2 years before interview had missing for this variable.

  • gA serving of red meat defined as 2–3 ounces of red meat, or a piece of meat about the size of a deck of cards.

  • hLimited to women (725 unaffected and 352 colorectal cancer affected).