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Table 4 Clinical characteristics of BRCA1/2 variant-positive individuals. Evidence of HBOC-related cancers (breast, ovarian, prostate, pancreatic, and melanoma) and of clinical genetic testing among 218 BioMe Biobank participants harboring expected pathogenic BRCA1/2 variants

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

Population characteristicsBreast and ovarian cancersAll HBOC-related cancersEvidence of clinical genetic testing, N (%)
Personal history, N (%)Personal or family history, N (%)Personal history, N (%)Personal or family history, N (%)
All variant positive (N = 218)52 (23.9)88 (40.4)61 (28.0)98 (45.0)58 (26.6)
By gene
BRCA1 (N = 86)27 (31.4)44 (51.2)29 (33.7)44 (51.2)31 (36.0)
BRCA2 (N = 131)24 (18.3)43 (32.8)31 (23.7)53 (40.5)26 (19.8)
 Both BRCA1 and BRCA2 (N = 1)1 (100.0)1 (100.0)1 (100.0)1 (100.0)1 (100.0)
By gender
 Female (N = 137)50 (36.5)78 (56.9)53 (38.7)81 (59.1)53 (38.7)
 Male (N = 81)2 (2.5)10 (12.3)8 (9.9)17 (21.0)5 (6.2)
p value (chi-squared test)3.9 × 10−82.3 × 10−109.7 × 10−69.9 × 10−8 3.6 × 10− 7
By founder variants
 With AJ founder variant (N = 80)18 (22.5)38 (47.5)23 (28.8)41 (51.3)31 (38.8)
 Without AJ founder variant (N = 138)34 (24.6)50 (36.2)38 (27.5)57 (41.3)27 (19.6)
p value (chi-squared test)0.850.140.970.183.4 × 10−3