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  • Poster presentation
  • Open Access

Colorectal cancer risk in patients with inflammatory bowel disease and Lynch syndrome

  • 1Email author,
  • 1,
  • 1,
  • 1,
  • 1 and
  • 1
Hereditary Cancer in Clinical Practice20108 (Suppl 1) :P1

https://doi.org/10.1186/1897-4287-8-S1-P1

  • Published:

Keywords

  • Colorectal Cancer
  • Inflammatory Bowel Disease
  • Lynch Syndrome
  • Small Case Series
  • Genetic Test Result

Background

Chronic inflammatory bowel disease (IBD) and Lynch syndrome (LS) are associated with an increased risk for developing colorectal cancer (CRC). After 8-10 years of pan-ulcerative colitis (DC), the risk of CRC is 2%, increasing by 0.5-1.0% annually. LS has been associated with a 60-80% lifetime risk of CRC. It is unclear whether individuals diagnosed with both IBD and LS would have a cumulative risk or earlier age of onset of CRC based on their diagnoses.

Method

Patients with IBD and a germline mismatch repair gene (MMR) mutation were identified through the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital in Toronto, Canada. Information on their IBD diagnosis, colorectal screening/surgery, medication use, family history and genetic test results were collected (Table 1).

Table 1

Case #

 

1

2

3

4

5

Gender

 

M

F

F

M

F

Ethnicity

 

Caucasian

Jewish

Caucasian

Caucasian

Caucasian

MMR Mutation

 

MLH1

MSH2

MSH2

MSH2

MSH6

Age of IBD dx

 

27

20

27

32

23

Site of IBD

 

Ileum

Pancolitis

Pancolitis

Proctitis

Pancolitis

Colectomy, age

 

21

57

43

44

63

Cancer/dysplasia

 

CRC dx 21

LGC*

None

TVA/HGD** dx 44

Endometrial dx 57

Smoking hx

 

N

Y

N

Y

N

IBD medication

5-ASA

N

Y

Y

Y

Y

 

Steroids

N

Y

Y

N

Y

 

Antibiotics

N

Y

Y

Y

N

Age of CRC in 10 or 20 kin

# of kin

2

3

2

4

5

 

Mean age

40.5

30.7

35.5

49.7

78.4

*LGD – low-grade dysplasia on random screening biopsy

**TVA/HGD – tubulovillous adenoma with foci of high-grade dysplasia

Results

Five of 329 (1.5%) individuals with germline MMR mutations reported having a history of IBD.

Conclusions

Concurrent IBD and LS did not appear to predispose to early-onset CRC in our small case series.

Authors’ Affiliations

(1)
Dr. Zane Cohen Digestive Disease Clinical Research Centre, Mount Sinai Hospital, Toronto, Ontario, Canada

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