Table 1 The risk, age at diagnosis, regular screening method, starting age for surveillance, and survival of MMR mutation carriers

CRC

MLH1:37.5-55.6

MSH2:33.8-50.0

MSH6:12.2-41.4

PMS2:9.6–57.9

Mean:80

MLH1: 52-81.7

MLH2: 52-93.1

MSH6: 10-22

PMS2: 15–20

Mean:45.7

Male:42

Female:47

MLH1:44

MSH2:43

MSH6:52

PMS2:46

Colonoscopy every 1–2 years

MLH1 and MSH2 carriers: 20–25 years

MSH6 and PMS2 carriers: 30–35 years

79.2–84.2

[4, 6, 7, 11, 15, 16, 19,20,21,22,23,24, 31, 32, 35,36,37]

Endometrial cancer

MSH2:50-66

MLH1:24-40

MSH6:10-13

PMS2 9.6

Mean:51

MLH1: 42

MSH2: 56

MSH6: 45

Mean: 49-49.7

MLH1 or MSH2:48-62

MSH6:55

PMS2:49

Gnecological examination, pelvic ultrasound and endometrial biopsy every year. After giving birth to hysterectomy.

30–35

96.2

[3, 5, 12,13,14, 25, 35, 37]

Gastric cancer

NR

Male MLH1 or MSH2>32.8

Female MLH1 or MSH2>27.1

Mean: 56-58.5

MLH1 or MSH2: 56

MSH6: 63

PMS2: 70–78

Gastroscopy every 3–5 years and remove Helicobacter pylori completely

30–35 or 40–45

61–64

[2, 8, 9, 21, 30, 35]

Lung cancer

NR

NR

68.5

Appropriate imaging examination screen and surveillance for carriers

NR

NR

[2, 11, 35]

Ovarian cancer

MLH1:38

MLH2:47

MLH1 or MSH2: 11–24

MSH6:3-10

PMS2: 6

Mean: 45-46

MLH1 or MSH2: 44

PMS2: 42

Vaginal ultrasound and CA125 detection, bilateral fallopian tube-ovarian resection after childbirth

30–35

52.5–59

[11, 33, 35, 37]

Small bowel cancer

NR

MLH1 or MSH2: 3–6

MLH1 or MSH2: 47-49

MSH6: 54

PMS2: 59

Upper gastrointestinal endoscopy every 3–5 years

30–35

NR

[28, 33]

Urinary tract cancer

NR

1-12.6

MLH1 or MSH2: 54-60

MSH6: 65

Urinalysis and ultrasound per year

30–35

85–93

[22, 28, 33]

Pancreatic cancer

NR

3.68

NR

Endoscopic ultrasound and magnetic resonance cholangiopancreatography based on individual conditions

NR

<5

[28, 33]

Central nervous tumors

NR

1–3

MLH1 or MSH2: 50

PMS2: 45

Routine physical examination every year

25–30

22

[28, 33]