Table 3 Founder variants identified among 112 BRCA1/2 expected pathogenic variants in the BioMe Biobank

BRCA1

c.5335delC

ESA (1)

Filipino and other Southeast Asian (1)

Filipino [32]

BRCA1

c.5266dupC

EA (6)

AJ (5), non-AJ European (1)

AJ [8, 33]

BRCA1

c.5123C>A

EA (1)

Non-AJ European (1)

Columbian, Spanish [34]

BRCA1

c.4327C>T

O (1)

Non-AJ European (1)

French Canadian [35], Mexican, Columbian, Peruvian [36]

BRCA1

c.3817C>T

HA (1)

Puerto Rican (1)

Chilean [37]

BRCA1

c.3756_3759delGTCT

EA (2)

Non-AJ European (1)

French Canadian* [38]

BRCA1

c.3331_3334delCAAG

AA (1), HA (1)

African American and African (1), other Central and South American (1)

Colombian [34], Chilean [37]

BRCA1

c.2475delC

EA (1)

AJ (1)

Scandinavian* [39]

BRCA1

c.303 T>G

AA (1)

African American and African (1)

African [40]

BRCA1

c.211A>G

HA (2), ESA (1)

Puerto Rican (2), Filipino and other Southeast Asian (1)

Spanish [41]

BRCA1

c.181 T>G

EA (1)

Non-AJ European (1)

Polish* [42]

BRCA1

c.116G>A

M (1)

Italian [43]

BRCA1

c.68_69delAG

EA (36), M (4), O (1)

AJ (38)

AJ [8, 44]

BRCA2

c.2808_2811delACAA

HA (1)

Other Central and South American (1)

Western European [45], Columbian [46]

BRCA2

c.3922G>T

HA (8)

Puerto Rican (7)

Puerto Rican [47]

BRCA2

c.4631delA

O (1)

Filipino and other Southeast Asian (1)

Filipino [32]

BRCA2

c.5351dupA

M (1)

Non-AJ European (1)

Dutch [45]

BRCA2

c.5576_5579delTTAA

ESA (1)

Filipino and other Southeast Asian (1)

Japanese [48]

BRCA2

c.5857G>T

AA (1)

African American and African (1)

French Canadian [49]

BRCA2

c.5946delT

EA (30), M (1), NA (1), O (2)

AJ (30), non-AJ European (1)

AJ [8, 45]

BRCA2

c.6644_6647delACTC

HA (1)

African American and African (1)

French* [50]

BRCA2

c.7480C>T

EA (1), HA (1)

Non-AJ European (1), Dominican (1)

Korean [51], Finnish [52]

BRCA2

c.7913_7917delTTCCT

EA (1)

AJ (1)

Czech* [53]