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. Author manuscript; available in PMC: 2023 May 10.
Published in final edited form as: Genet Med. 2021 Nov 30;24(1):119–129. doi: 10.1016/j.gim.2021.08.016

Table 4.

ER status in tumors of BRCA1 pathogenic variant heterozygotes

Variant/Group No. of Tumors No. of ER Positive (%) No. of ER Negative (%)
GC-HBOC BRCA1 PTC 210 59 (28) 151 (72)
BRCA1 missense PVs
p.[Cys61Gly] 216 55 (25) 161 (75)
p.[Cys64Arg] 21 4(19) 17 (81)
Other RING Domain 11 2 (18) 9 (82)
p.[Arg1699Trp] 26 8(31) 18 (69)
p.[Ala1708Glu] 29 14 (48) 15 (52)
p.[Gly1738Arg] 33 9 (27) 24 (73)
Other BRCT Domain 23 6 (26) 17 (74)
All BRCA1 missense 359 98 (27) 261 (73)

BRCT, BRCA1-C-Terminal; ER, estrogen receptor; GC-HBOC, German Consortium for Hereditary Breast and Ovarian Cancer; PTC, protein-truncating.