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Validating the Family History Scoring System application to identify Lynch syndrome families
Hereditary Cancer in Clinical Practice volume 9, Article number: P26 (2011)
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 . 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.
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.
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).
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).
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.
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/s10350-004-0880-9
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McGannon, E., Shenal, J., Strohhacker, M.A. et al. Validating the Family History Scoring System application to identify Lynch syndrome families. Hered Cancer Clin Pract 9, P26 (2011). https://doi.org/10.1186/1897-4287-9-S1-P26
- Colorectal Cancer
- Lynch Syndrome
- Median Score
- Cancer Syndrome
- Familial Risk