Gene-related @entity5 spectrum in families with @entity14 ( XXXX ).

@entity1204 @entity6756 @entity43 @entity788 @entity0 @entity5 @entity1489 @entity4311 @entity14 @entity1698 @entity694 @entity4638 @entity703
The family histories of 130 individuals with documented @entity14 ( @entity14 ) (caused by mutations in mismatch-repair (MMR) genes @entity4311 (n = 64), @entity6756 (n = 62) or @entity4638 (n = 4)) were obtained, and incidence of @entity5 in those families was compared to that in the general population. There were a total of 982 @entity5 in 723 individuals. @entity14 ( @entity14 ) was the commonest type (64% and 55% in individuals from families with germline @entity6756 and @entity4311 mutations respectively). Median age at diagnosis of first @entity14 in @entity4638 mutation families was 59 years compared to 45 years in both @entity6756 and @entity4311 mutation families. The relative risk (RR) of @entity1204 was 55 in @entity4311 mutation families, compared with 27 in @entity6756 mutation families, and 37 in @entity4638 mutation families; median age at diagnosis 49 years. Even within @entity4311 families, @entity1204 tended to cluster, with 28 of the 58 cases coming from families with three or more cases (P < 0.001). Absolute risk of @entity1204 in @entity6756 families was still greater than any other @entity5 (other than @entity14 ). 5% of @entity5 in both @entity6756 and @entity4311 mutation families were gastric (RR = 12); 53% of these were diagnosed before 50 years. Seven cases of small @entity5 occurred in @entity4311 and @entity6756 mutation families (RR = 26). There were 13 cases of @entity1698 ; all were in @entity4311 families. These @entity5 tended to cluster within families (P < 0.001); three of seven families with @entity5 had such cases in two or more individuals; two others had @entity703 . @entity43 (70%) were in @entity4311 mutation families and 70% of these were diagnosed before age 50 years. There were 9 cases of sebaceous @entity1489 , 3 in two @entity6756 and 6 in four @entity4311 mutation families. Of 22 @entity788 , 14 were known to be diagnosed before 60 years. @entity0 RR was 1.7 overall. The type of mutation (truncating or other type, and site of mutation) showed no obvious correlation with the presence or @entity694 in families.
