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

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

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

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

ISSN: 1471-2407