PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size

Table 3 Characteristics of Breast Cancer Cohorts selected from 139 high-risk breast cancer pedigrees

	Nuclear Family Cohort¹				Case-Control Cohort²
	Trio Cases	Trio Controls	Sib Cases	Sib Controls	Cases	Controls
No. with complete genotype data	50	62	181	275	231	235
Mean age at diagnosis (SD)	50.2 (12.3)	NA	51.7 (16.2)	NA	58.3 (13.0)	NA
Mean age (SD) of controls at time of study	NA	84.5 (9.4)	NA	68.8 (15.0)	NA	74.8 (14.7)

¹The Nuclear Family cohort consists of 39 trios (i.e., two parents and their affected daughter) and 167 unique female sibships. Some of the parents of the Trios were also breast cancer cases. Some sibships contained more than one female breast cancer case and more than one female control sibling.
²The Case-Control cohort originally was composed of 236 breast cancer cases matched to 236 controls. Individuals in this cohort are also related to one another. Genotyping could not be completed for five cases and one control.

ISSN: 1471-2105