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Table 2 BRCA1 LGRs in 174 familial breast and/or ovarian cancer patients

From: Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

Family ID Mutation Sex of proband Phenotype proband (age Dx) Tumor type IHC Familial history of breast cancer and ovarian cancer (age Dx) Other cancers in the family (age Dx)
147 Exon5-7dup Female 43 IDC ER−/PR−/HER2- S OC (48) None
10 Exon13-14dup Female 29 MpBC ER−/PR−/HER2- M BC(57), PGM BC None
213 Exon13-14dup female 33 IDC ER+/PR−/HER2- PA OC(53) and BC(56), MGM BC (52) None
113 Exon1-22del Female 45 (R), 50 (L) BMC (R), IDC (L) R: ER−/PR−/HER2+
L: NA
S BC (42) and OC (45) F EC (71), MU BlaC (71), MB Leu
203 Exon1–24(part)del Female 39 MBC ER−/PR−/HER2- M BC (50), MS BC (43) None
  1. LGRs Large genomic rearrangements, Dx diagnosis, IHC immunohistochemistry, dup duplication, del deletion, R right, L left, MpBC micropapillary breast cancer, BMC breast mucinous carcinoma, IDC invasive ductal carcinoma, MBC medullary breast carcinoma, BC breast cancer, OC ovarian cancer, EC esophageal carcinoma, BlaC bladder carcinoma, Leu leukemia, M mother, PGM paternal grandmother, S sister, MS maternal sister, PA paternal aunt, MGM maternal grandmother, F father, MU maternal uncle, MB maternal brother