Volume 9 Supplement 1

Proceedings of the 14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer

Open Access

Validating the Family History Scoring System application to identify Lynch syndrome families

  • Ellen McGannon1Email author,
  • Janet Shenal1,
  • Matthew A Strohhacker1,
  • Susan Fay1 and
  • James M Church2
Hereditary Cancer in Clinical Practice20119(Suppl 1):P26

https://doi.org/10.1186/1897-4287-9-S1-P26

Published: 10 March 2011

Background

The FHSS (a points-based scoring system) was previously used to identify families at high risk of an inherited colorectal cancer syndrome. AM-I (Amsterdam-I) families scored high (≤12), but some scored low (≥8) when scored from unaffected relative’s perspective [1]. The FHSS is being applied to Lynch families (MMR+) and familial colon cancer type X (Type X) to see if the scoring system would yield similar results.

Method

Family members (1 proband, 2 siblings and 2 children of the sibling) in Lynch and Type X families identified from the Jagelman Registry database were scored according to the score sheet described in Table 1.

Table 1

 

Points

Proband

 

Affected

3

First Degree Relatives(FDR)

 

Each FDR

3 each

1-FDR<50-yr, including proband)

3

1-FDR–same side family

Extra 3

Second Degree relatives(SDR)

 

Each SDR

1 each

>1-SDR<50-yr

1

>1-SDR–same side family

Extra 1*

Combination FDR and SDR

 

1-FDR and any SDR–same side family

2*

*only if maximum 3 points per family not exceeded

They were scored from perspective of an affected proband (AP) or unaffected proband (UP), affected (AS) or unaffected (US) sibling or a child of each sibling (Child).

Results

91 probands (68 affected, 23 unaffected) in 48 AM-I, 14 Amsterdam-II (AM-II), 6 Amsterdam-Like (AM-Like), 10 Familial Colon Cancer (FCC), 6 no syndrome (syn) families and 7 Type X were scored. 197 relatives were scored (38 affected siblings, 23 Child AP/AS, 40 Child AP/US, 77 unaffected siblings, 9 Child UP/AS, 10 Child UP/US). AM-I and Type X median scores were higher than other syndromes (<12) and suggestive of HNPCC when scored from the perspective of the proband, sibling or child of AS. The median scores were lower in AM-II, FCC, AM-Like, and no syn families with fewer colon cancers (Table 2).
Table 2

Median Scores

 

AP

AP’s AS

AP’s US

Child AP’s AS

Child AP’s US

UP

UP’s AS

UP’s US

Child UP’s AS

Child UP’s US

Total Syndromes

14

18

14

12

4

12

15

12

7

4

AM- I

17

18

17

12

5

12

16

12

9

4

Type X

14

17

14

14

4

12

15

12

  

AM-II

12

12

12

7

2

13

13

15

9

5

FCC

12

13

9

10

2

10

10

8

8

10

AM-LIKE

12

 

12

 

4

4

 

4

 

1

No-Syn

6

 

6

 

2

6

6

 

6

 

Conclusion

Findings were similar to validation study conducted on AM-I families. The FHSS is a reliable tool to determine familial risk of colorectal cancer especially in AM-I families and depends on the perspective of person being scored. In small families, those with predominantly extra colonic cancers or high-risk polyps, or if affected relatives are more than a generation from an individual, the FHHS will not always identify high risk or Lynch families.

Authors’ Affiliations

(1)
Taussig Cancer Institute, Cleveland Clinic
(2)
Department of Colorectal Surgery, The Sandford R. Weiss, M.D. Center for Hereditary Colorectal Neoplasia, Digestive Disease Institute, Cleveland Clinic

References

  1. Church JM: A scoring system for the strength of a family history of colorectal cancer. Dis Colon Rectum 2005,48(5):889–96. 10.1007/s10350-004-0880-9PubMedView ArticleGoogle Scholar

Copyright

© McGannon et al; licensee BioMed Central Ltd. 2011

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Advertisement