1Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2Department of Laboratory and Genetics, Sungkyunkwan University School of Medicine, Seoul, Korea
Copyright © 2022 by the Korean Cancer Association
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Clinicopathological characteristics of breast cancer patients according to BRCA mutation status
Variable | BRCA1/2+ (n=7) (%) | BRCA1+ (n=230) (%) | BRCA2+ (n=229) (%) | p-value |
---|---|---|---|---|
Age (yr) | 33.7±4.8 | 41.1±9.2 | 43.5±9.8 | 0.001 |
Sex | ||||
Female | 7 (100) | 229 (99.6) | 227 (99.1) | 0.64 |
Male | 0 | 1 (0.4) | 2 (0.9) | |
Nuclear grade | ||||
I | 0 | 6 (2.6) | 12 (5.2) | < 0.001 |
II | 3 (42.9) | 58 (25.2) | 130 (56.8) | |
III | 4 (57.1) | 166 (72.2) | 87 (38.0) | |
Histologic grade | ||||
I | 0 | 13 (5.7) | 21 (9.2) | < 0.001 |
II | 4 (57.1) | 60 (26.1) | 130 (56.8) | |
III | 3 (42.9) | 157 (68.3) | 78 (34.1) | |
ER | ||||
Positive | 2 (28.6) | 63 (27.4) | 184 (80.3) | < 0.001 |
Negative | 5 (71.4) | 167 (72.6) | 45 (19.7) | |
PR | ||||
Positive | 2 (28.6) | 46 (20.0) | 172 (75.1) | < 0.001 |
Negative | 5 (71.4) | 184 (80.0) | 57 (24.9) | |
HER2 | ||||
Positive | 0 | 14 (6.1) | 14 (6.1) | 0.795 |
Negative | 7 (100) | 216 (93.9) | 215 (93.9) | |
Subtype | ||||
TNBC | 5 (71.4) | 153 (66.5) | 40 (17.5) | < 0.001 |
Non-TNBC | 2 (28.6) | 77 (33.5) | 159 (82.5) |
Values are presented as mean±SD or number (%). ER, estrogen receptor; HER2, human epidermal growth factor receptor-2; PR, progesterone receptor; TNBC, triple-negative breast cancer.
Clinicopathological characteristics of breast cancer patients with double heterozygotes for BRCA1/2 genes
Variable | Patient No. | ||||||
---|---|---|---|---|---|---|---|
| |||||||
1 | 2 | 3 | 4 | 5 | 6 | 7 | |
Age at initial diagnosis (yr) | 35 | 31 | 35 | 42 | 35 | 26 | 34 |
| |||||||
Laterality | Unilateral | Bilateral | Unilateral | Unilateral | Unilateral | Unilateral | Unilateral |
| |||||||
Histology | IDC | IDC | IDC | IDC | IDC | IDC | IDC |
| |||||||
NAC | No | No | No | Yes | No | Yes | Yes |
| |||||||
TNM stage | pT1N0 | pT2N0 (R) | pT2N0 | cT2N0 | pT1N0 | cT2N0 | cT2N0 |
pTisN0 (L) | ypT1N0 | ypT0N0 | ypT1N0 | ||||
| |||||||
No. of involved LNs | 0/2 | 0/6 (R) | 0/4 | 0/6 | 0/5 | 0/2 | 0/3 |
0/2 (L) | |||||||
| |||||||
Nuclear grade | II/III | II/III | III/III | III/III | II/III | III/III | III/III |
| |||||||
Histologic grade | III/III | II/III | III/III | II/III | II/III | III/III | III/III |
| |||||||
ER | Negative | Positive | Negative | Negative | Positive | Negative | Negative |
| |||||||
PR | Negative | Positive | Negative | Negative | Positive | Negative | Negative |
| |||||||
HER-2/neu | Negative | Negative | Negative | Negative | Negative | Negative | Negative |
| |||||||
Ki-67 (%) | 82.1 | 25.6 | 90.0 | 1.4 | 20.6 | 89.7 | 10.9 |
| |||||||
CRRM | No | No | Yes | Yes | Yes | No | |
| |||||||
RRSO | Yes | Yes | No | Yes | No | No | No |
| |||||||
Regional recurrence | Yes | No | No | No | No | No | No |
| |||||||
Distant metastasis | No | No | No | Yes | No | No | No |
| |||||||
Family history | |||||||
| |||||||
Breast cancer | No | Yes |
Yes |
Yes |
Yes |
No | Yes |
| |||||||
Ovarian cancer | Yes |
No | No | No | No | No | No |
Other cancers | Esopagus |
Colon |
Lung |
Stomach |
|||
Prostate |
Pancreas |
Thyroid |
|||||
Stomach |
Pancreas |
||||||
| |||||||
Follow-up | 17 yr 7 mo | 9 yr 5 mo | 5 yr 2 mo | 3 yr 6 mo | 1 yr 9 mo | 1 yr 5 mo | 1 yr 5 mo |
BC, breast cancer; CRRM, contralateral risk-reducing mastectomy; ER, estrogen receptor; HER-2/neu, human epidermal growth factor receptor; IDC, invasive ductal carcinoma; L, left; LN, lymph node; NAC, neoadjuvant chemotherapy; PR, progesterone receptor; R, right; RRSO, risk-reducing salphingo-oophorectomy.
a)Maternal history,
b)Paternal history.
Detected variants in double heterozygosity of BRCA1/2 patients found in Korea
Patient No. | BRCA1 gene | BRCA2 gene | Remark | ||
---|---|---|---|---|---|
|
| ||||
Nucleotide change | Amino acid change | Nucleotide change | Amino acid change | ||
1 | c.5030_5033del | p.(Thr1677Ilefs*2) | c.1399A>T | p.(Lys467*) | 3 |
| |||||
2 | c.5496_5506delinsA | p.(Val1833Serfs*7) | c.7480C>T | p.(Arg2494*) | 1 |
| |||||
3 | c.922_924delinsT | p.(Ser308*) | c.3599_3600del | p.(Cys1200*) | 1 |
| |||||
4 | c.390C>A | p.(Tyr130*) | c.5576_5579del | p.(Ile1859Lysfs*3) | 1 |
| |||||
5 | c.3627dup | p.(Glu1210Argfs*9) | c.1399A>T | p.(Lys467*) | 1 |
| |||||
6 | c.38_39delinsGGG | p.(Asn13Argfs*4) | c.1399A>T | p.(Lys467*) | 1 |
| |||||
7 | c.922_924delinsT | p.(Ser308*) | c.6437_6440del | p.(Asn2146Thrfs*21) | 1 |
| |||||
8 | c.1504_1508del | p.(Leu502Alafs*2) | c.2798_2799del | p.(Thr933Argfs*2) | 2 |
| |||||
9 | c.4981G>T | p.(Glu1661*) | c.6486_6489del | p.(Lys2162Asnfs*5) | 2 |
| |||||
10 | c.3627dup | p.(Glu1210Argfs*9) | c.6724_6725del | p.(Asp2242Phefs*2) | 2 |
| |||||
11 | c.390C>A | p.(Tyr130*) | c.3018del | p.(Gly1007Valfs*36) | 2 |
All variants are marked according to the Human Genome Variation Society recommendations. 1, found in this study; 2, found in before Noh et al. [
List of common (7 variants) PV/LPVs of BRCA1 and BRCA2 genes in this study and KOHBRA study
BRCA1 | BRCA2 | ||||||
---|---|---|---|---|---|---|---|
|
| ||||||
This study | No. | KOHBRA | No. | This study | No. | KOHBRA | No. |
c.390C>A | 26 | c.390C>A | 21 | c.7480C>T | 40 | c.7480C>T | 38 |
| |||||||
c.5496_5506delinsA | 23 | c.5496_5506delinsA | 15 | c.1399A>T | 23 | c.3744_3747del | 20 |
| |||||||
c.3627dup | 19 | c.922_923del | 11 | c.3744_3747del | 14 | c.1399A>T | 18 |
| |||||||
c.5339T>C |
16 | c.5030_5033del | 10 | c.5576_5579del | 10 | c.5576_75579del | 14 |
| |||||||
c.922_924delinsT | 15 | c.3627dup | 9 | c.6724_6725del | 6 | c.9076C>T | 7 |
| |||||||
c.5445G>A | 14 | c.5445G>A | 7 | c.8991T>G | 6 | c.6724_6725del | 6 |
| |||||||
c.5080G>T | 7 | c.5080G>T | 5 | c.6724_6725del | 6 | c.8991T>G | 5 |
All variants are marked according to the Human Genome Variation Society recommendations. KOHBRA, Korean Hereditary Breast Cancer; PV/LPV, pathogenic/likely pathogenic variant.
a)This variant was classified as variant of uncertain significance (VUS) before Ryu et al. [
Values are presented as mean±SD or number (%). ER, estrogen receptor; HER2, human epidermal growth factor receptor-2; PR, progesterone receptor; TNBC, triple-negative breast cancer.
BC, breast cancer; CRRM, contralateral risk-reducing mastectomy; ER, estrogen receptor; HER-2/neu, human epidermal growth factor receptor; IDC, invasive ductal carcinoma; L, left; LN, lymph node; NAC, neoadjuvant chemotherapy; PR, progesterone receptor; R, right; RRSO, risk-reducing salphingo-oophorectomy. Maternal history, Paternal history.
All variants are marked according to the Human Genome Variation Society recommendations. 1, found in this study; 2, found in before Noh et al. [
All variants are marked according to the Human Genome Variation Society recommendations. KOHBRA, Korean Hereditary Breast Cancer; PV/LPV, pathogenic/likely pathogenic variant. This variant was classified as variant of uncertain significance (VUS) before Ryu et al. [