Table 2.

Criteria for ascertainment for CDH1 mutation analysis

Breast Cancer Genetics Consortium
Criteria for ascertainment	Patients (n=120)	Sex	Median age (years)	Age range (years)	Novel non-synonymous variants in criteria	BRCA1/2 negative (n=66)	BRCA1/2 unknown (n=54)
Criteria 1	66	F	40	(28–44) (n=66)	2	36	34
Criteria 2	54	F	54	(45–72) (n=54)	1	30	20
Breast CFR
Criteria for ascertainment	Patients (n=165)	Sex	Median age (years)	Age range (years)	Novel non-synonymous variants in criteria	BRCA1/2 negative (n=147)	BRCA1/2 unknown (n=18)
Criteria 1	142	F	40	(31–44) (n=51)	3	130	12
Criteria 2	23	F	57	(45–79) (n=20)	0	17	6
kConFab
Criteria for ascertainment	Patients (n=33)	Sex	Median age (years)	Age range (years)	Novel non-synonymous variants in criteria	BRCA1/2 negative (n=33)	BRCA1/2 unknown
Criteria 1	6	F	40	(37–43) (n=6)	0	6	0
Criteria 2	27	F	57	(45–77) (n=28)	0	27	0
All samples
Criteria for ascertainment	Patients (n=318)	Sex	Median age (years)	Age range (years)	Novel non-synonymous variants in criteria	BRCA1/2 negative (n=246)	BRCA1/2 unknown (n=72)
Criteria 1	214	F	40	(28–44) (n=123)	5	172	46
Criteria 2	104	F	56	(45–79) (n=101)	1	74	26

The criteria for ascertainment were a patient with a history of lobular or mixed ductal and lobular pathology whose BRCA1 and BRCA2 mutation status was negative or unknown and either diagnosed before age 45 years or diagnosed at any age but with two or more cases of breast cancer in first- or second-degree relatives.