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. Author manuscript; available in PMC: 2009 Oct 8.
Published in final edited form as: Gastroenterology. 2008 May 2;135(2):419–428. doi: 10.1053/j.gastro.2008.04.026

Table 2.

Number of PMS2 mutation carriers by age at diagnosis and family history in probands with isolated loss of PMS2 in their tumor by IHC.

Total PMS2 mutation carrier (%)

Age <50 47 27 (57.4)
 and affected FDR and/or SDR 27 17 (63)

Age >50 46 28 (60.9)
 and affected FDR and/or SDR 26 15 (57.7)

FDR = first degree relative, SDR = second degree relative. Probands were considered mutation positive only when a deleterious mutation was identified. Patients with uncertain missense variants were considered negative. Biallelic mutation carriers (n=6) were excluded from this table.