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Table 1 Demographics of exome-sequenced adult BioMe Biobank participants and of individuals harboring expected pathogenic variants in BRCA1/2

From: Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

 

Sequenced BioMe participants (N = 30,223)

BRCA1/2 variant negative (N = 27,060)*

BRCA1/2 variant positive (N = 218)

Age, median (IQR)

59 (45–70)

59 (46–70)

58 (43–70)

Female, N (%)

17,914 (59.3)

15,986 (59.1)

137 (62.8)

Self-reported ancestry, N (%)

 African American/African

6878 (22.8)

5877 (28.3)

33 (15.1)

 East/Southeast Asian

757 (2.5)

659 (3.2)

6 (2.8)

 European

7772 (25.7)

7265 (35.0)

121 (55.8)

 Hispanic/Latino

10,460 (34.6)

9360 (45.1)

34 (15.6)

 Native American

52 (0.2)

47 (0.2)

0 (0)

 South Asian

605 (2.0)

543 (2.6)

0 (0)

 Other

2343 (7.8)

2111 (10.2)

13 (6.0)

 Multiple selected

1125 (3.7)

1006 (4.9)

10 (4.6)

 Not available

231 (0.8)

192 (0.9)

1 (0.5)

  1. *Variant-negative participants are defined as not having any variants that were pathogenic, uncertain/conflicting, or unclassified in ClinVar