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BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers Cover

BRCA 1/BRCA 2 Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers

Open Access
|May 2023

Figures & Tables

Table 1.

Clinical and demographic findings of the study subjects

Age, years
    Median (Interquartile range)45 (38-54)
Gender, n (%)
    Female190 (95.0)
    Male10 (5.0)
ECOG-PS, n (%)
    0162 (81.0)
    138 (19.0)
Primary tumor, n (%)
    Breast128 (64.0)
    Genital63 (31.5)
    Prostate7 (3.5)
    Pancreas2 (1.0)
Family history, n (%)91 (45.5)
Degree of relatives, n (%)
    First-degree67 (33.5)
    Second degree22 (11.0)
    Third degree2 (1.0)
Diagnosis age of relatives, median (IQR)
    Parent diagnosis57 (50-66)
    Sibling diagnosis44.5 (35-49)
    Second relatives40 (35.5-48.5)
Multiple primary tumor, n (%)12 (6.0)
    Synchronous1 (0.5)
    Metachronous11 (5.5)
Multiple primary tumor site, n (%)
    Breast-ovary11 (5.5)
BRCA, n (%)
    BRCA-1130 (65.0)
    BRCA-270 (35.0)

[i] ECOG-PS: Eastern Cooperative Oncology Group- performance score, IQR: Interquartile range

Figure 1.

Diagnosis age of all patients and their relatives

Table 2.

Clinical and demographic data of breast cancer patients

Age, years
    Median (Interquartile range)41.5 (34-50)
Gender, n (%)
    Female126 (98.4)
    Male2 (1.6)
ECOG-PS, n (%)
    0114 (89.1)
    114 (10.9)
BRCA, n (%)
    BRCA179 (61.7)
    BRCA249 (38.3)
Primary tumor size (T), n (%)
    0-2 cm –T179 (79.0)
    2-5 cm- T215 (15.0)
    5 cm and above-T34 (4.0)
Lymph node metastasis, n (%)61 (47.7)
Stage, n (%)
    Stage I30 (23.4)
    Stage II53 (41.4)
    Stage III29 (22.7)
    Stage IV14 (10.9)
Histopathology
    ER, %, median (IQR)45 (0-90)
    PgR, %, median (IQR)0 (0-65)
CerbB2, IHC, n (%)
    1+17 (13.3)
    2+22 (17.2)
    3+8 (6.3)
    cerbB2, FISH12 (9.4)
    Ki-67, %, median (IQR)30 (15-50)
Subtypes, n(%)
    Triple negative56 (43.8)
    Luminal Her2-57 (44.5)
    Luminal Her2+9 (7.0)
    cerbB2+3 (2.3)
Tumor location, n (%)
    Right65 (50.8)
    Left58 (45.3)
    Bilateral5 (3.9)
De novo metastasis, n (%)14 (10.9)
Metastasis site, n (%)
    Lung10 (7.8)
    Bone18 (14.1)
    Liver8 (6.3)
    Lymph node4 (3.1)
Family history, n (%)64 (50.0)
Diagnosis age of relatives, median (IQR)
    Parent diagnosis (n=15)51 (46-57.5)
    Sibling diagnosis (n=7)44 (35-49)

[i] cerbB2-IHC: C-erbB-2- immunohistochemistry, ECOG-PS: Eastern Cooperative Oncology Group-performance score, ER: Estrogen receptor, PFS: progression-free-survival, PR: Progresterone receptor

Figure 2.

Diagnosis age of breast and genital cancer pat

Table 3.

Clinical charactersitics of the genital site tumors

Age, years
    Median (Interquartile range)50 (44-59)
ECOG-PS, n (%)
    043 (68.3)
    120 (31.7)
Tumor Location, n (%)
    Ovary58 (92.1)
    Endometrium2 (3.2)
    Peritoneum1 (1.6)
FIGO stage, n (%)
    Stage I12 (19.0)
    Stage II9 (14.3)
    Stage III26 (41.3)
    Stage IV12 (19.0)
De novo metastasis, n (%)20 (31.7)
Histopathology, n (%)
    Serous48 (76.2)
    Endometrioid9 (14.3)
    Serous+Endometrioid4 (6.3)
Postop residual disease, n (%)13 (20.6)
Ca125 at diagnosis
    Median (Interquartile range)155 (41-560)
BRCA, n (%)
    BRCA149 (77.8)
    BRCA214 (22.2)
Platinum-based therapy cycles
    Median (Interquartile range)6 (6-6)
Platinum-therapy response, n (%)
    CR43 (68.3)
    PR12 (19.2)
PFS of platinum based regimen (first-line)
    <6 months0
    6-12 months14 (22.2)
    >12 months28 (44.4)
Platinum based line number
    Median (minimum-maximum)1 (1-6)
Family history, n (%)24 (38.1)
Diagnosis age of relatives, median (IQR)
    Parent diagnosis63 (58-68)

[i] Ca 125: Cancer antigen 125, ECOG-PS: Eastern Cooperative Oncology Group- performance score, PFS: progression-free-survival

Table 4.

Clinical and demographic findings of patients with prostate cancer

Age, years
    Median (Interquartile range)57 (57-60)
De novo metastasis, n (%)3 (42.9)
PSA47 (14-74)
mCRPC, n (%)7 (100)
Time from metastasis to CRPC status (months)28 (14-58)
Treatment line settings
    Docetaxel at 1 line7 (100)
    Enzalutamid at 2 line5 (71.4)
    Abiraterone at 2 line1 (14.2)
    Lutesyum at 3 line3 (42.9)
    Olaparib at 3 line5 (71.4)
Docetaxel PFS (months)13 (12-14)
Postdocetaxel treatment options
    Enzalutamide5 (71.4)
    Abiraterone1 (14.2)
    Cabazitaxel1 (14.2)

[i] mCRPC metastatic castration resistant prostate cancer, PFS: progression-free-survival, PSA prostate specific antigen,

DOI: https://doi.org/10.2478/bjmg-2022-0023 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 5 - 14
Published on: May 2, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services

© 2023 K. Osman, K. Ahmet, T. Hilmi, N.O. İlker, Ö. Ercan, Ç. Devrim, S. Murat, Ç. Emre, H. İlhan, G. Mustafa, Ü. Yüksel, Y. Bahiddin, E. Cihan, N. Ş. Mehmet Ali, E. Emrah, D. Umut, O. Zeynep, K. Mehmet Ali, G. Ali, G. İvo, Ö. Erkan, B.H. Muhammet, E. Bülent, D. Selma, U. Sernaz, G. Mahmut, G. Hakan, Ç. İrfan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.