Table 1.
Clinical information of 29 breast cancer cases
| Case# | Sex | Age | Diagnosis | Treatment | TNM staging | gBRCA status | ClinVar | |||
|---|---|---|---|---|---|---|---|---|---|---|
| T | N | M | Stage | |||||||
| #01 | F | 44 | Past Rt BC, R0 | BRRM | 0 | 0 | 0 | BRCA1 p.Q1281* | Pathogenic:3 | |
| #02 | F | 33 | No cancer history | BRRM | 0 | 0 | 0 | BRCA1 p.L63* | Pathogenic:3 | |
| #03 | F | 39 | Rt BC | NAC + Rt Bt + CRRM (Lt) | 2 | 0 | 0 | IIA | BRCA1 p.L63* | Pathogenic:3 |
| #04 | F | 45 | Lt BC | Lt Bt + CRRM (Rt) | 1c | 3 | 0 | IIIC | BRCA2 p.Ile1065fs | Pathogenic:3 |
| #05 | F | 69 | Lt BC | Lt Bt + CRRM (Rt) | 1c | 0 | 0 | IA | BRCA1 c.5278-1 G > A | Pathogenic/Likely_pathogenic:2 |
| #06 | F | 44 | Past Lt BC, R0 | CRRM (Rt) | 0 | 0 | 0 | BRCA2 p.Ser2835* | Pathogenic:3 | |
| #07 | F | 44 | Lt BC and Rt DCIS* | Lt Bt + CRRM (Rt) | 2 | 0 | 0 | IIA | BRCA1 p.Ser1241fs | Pathogenic:3 |
| #08 | F | 45 | Lt BC | Lt Bt | 3 | 1 | 0 | IIIA | BRCA WT | |
| #09 | M | 66 | Lt BC | Lt Bt | 2 | 0 | 0 | IIA | BRCA WT | |
| #10 | F | 36 | No cancer history | BRRM | 0 | 0 | 0 | BRCA1 p.L63* | Pathogenic:3 | |
| #11 | F | 47 | Rt BC and Lt DCIS | BM | 2 | 0 | 0 | IIA | BRCA WT | |
| #12 | F | 43 | Rt BC | Rt Bt | 1c | 1 mi | 0 | IB | BRCA WT | |
| #13 | F | 49 | Rt BC | Rt Bt | 3 | 1 | 0 | IIIA | BRCA WT | |
| #14 | F | 81 | Rt BC | Rt Bt | 1c | 0 | 0 | IA | BRCA WT | |
| #15 | F | 43 | Past Lt BC, R0 | BRRM | 0 | 0 | 0 | BRCA1 p.Ser1241fs | Pathogenic:3 | |
| #16 | F | 58 | Lt BC and Rt DCIS* | Lt Bt + CRRM (Rt) | 1c | 0 | 0 | IA | BRCA2 p.Tyr1710fs | Pathogenic:3 |
| #17 | F | 39 | Past Lt BC, R0 | CRRM (Rt) | 0 | 0 | 0 | BRCA2 p.Arg2318* | Pathogenic:3 | |
| #18 | F | 43 | Lt BC and Rt DCIS | BM | 1c | 0 | 0 | IA | BRCA2 p.Trp194* | Pathogenic:3 |
| #19 | F | 39 | Bil BC | BM | 2 | 0 | 0 | IIA | BRCA2 p.Asn43fs | Pathogenic:3 |
| #20 | F | 45 | Bil BC | BM | 1a | 0 | 0 | IA | BRCA1 p.Leu63* | Pathogenic:3 |
| #21 | F | 32 | No cancer history | BRRM | 0 | 0 | 0 | BRCA2 p.Arg2494* | Pathogenic:3 | |
| #22 | F | 39 | Lt DCIS | Lt Bt + CRRM (Rt) | is | 0 | 0 | 0 | BRCA2 p.Ala2864fs | Pathogenic:1 |
| #23 | F | 45 | Lt BC | NAC + Lt Bt | 1c | 0 | 0 | IA | BRCA1 c.5278-1 G > A | Pathogenic:2 |
| #24 | F | 46 | Rt BC | Rt Bt + CRRM (Lt) | 1b | 0 | 0 | IA | BRCA1 p.Gln1447fs | Pathogenic:3 |
| #25 | F | 40 | Rt BC and past Lt BC | Rt Bt | 1b | 0 | 0 | IA | BRCA1 p.Leu152fs | Pathogenic:3 |
| #26 | F | 39 | Rt BC | Rt Bt + CRRM (Lt) | 2 | 1 | 0 | IIB | BRCA1 c.4485-2 A > G | Pathogenic/Likely_pathogenic:2 |
| #27 | F | 47 | Rt BC | Rt Bt + CRRM (Lt) | 1b | 0 | 0 | IA | BRCA2 p.Asp1033fs | Pathogenic:3 |
| #28 | F | 40 | Past Lt BC, R0 | BRRM | 0 | 0 | 0 | BRCA1 p.Leu1216* | Pathogenic:3 | |
| #29 | F | 40 | Rt BC | NAC + Rt Bt + CRRM (Lt) | 2 | 0 | 0 | IIA | BRCA1 c.5278-1 G > A | Pathogenic:2 |
gBRCA status indicates the germline variants of BRCA1 and BRCA2. ClinVar column indicates the classification of the germline variant and score of review status. F female, M male, Lt, left, Rt right, BC breast cancer R0 no residual tumor, DCIS ductal carcinoma in situ, DCIS* ductal carcinoma in situ identified by pathological diagnosis after surgery, BRRM bilateral risk-reducing mastectomy, CRRM, contralateral risk-reducing mastectomy, BM bilateral mastectomy, Bt total mastectomy, NAC neoadjuvant chemotherapy, WT wild type.