BRCA 1/BRCA 2 PATHOGENIC/LIKELY PATHOGENIC VARIANT PATIENTS WITH BREAST, OVARIAN, AND OTHER CANCERS
Osman K.1,*, Ahmet K.2, Hilmi T.3, İlker N.O.4, Ercan Ö.5, Devrim Ç.5, Murat S.1, Emre Ç.6, İlhan H.6, Mustafa G.7, Yüksel Ü.7, Bahiddin Y.8, Cihan E.9, Mehmet Ali N. Ş.9, Emrah E.10, Umut D.10, Zeynep O.11, Mehmet Ali K.12, Ali G.2, İvo G.2, Erkan Ö.2, Muhammet B. H.2, Bülent E.2, Selma D.12, Sernaz U.2, Mahmut G.4, Hakan G.12, İrfan Ç.2
*Corresponding Author: Assoc. Prof. Osman Köstek, MD, Marmara University, School of Medicine, Department of Medical Oncology Address: Marmara University, Basıbuyuk Campus, Maltepe, Istanbul, Turkey. Email: osmankostek@hotmail.com, Telephone: +90 554 585 73 90
page: 5

RESULTS

Study patients A total of 200 BRCA pathogenic/likely pathogenic variant patients were analyzed across 9 medical oncology centers. Table 1 shows the clinical and demographic characteristics of the study subjects. Of these, 130 (65%) patients harbored the BRCA 1 pathogenic/likely pathogenic variant, and 70 of them harbored the BRCA 2 pathogenic/ likely pathogenic variant. Only 1 patient had a synchronous disease and 11 patients had metachronous (breast and ovary) multiple primary disease. The median age at diagnosis was 45 (IQR: 38-54) years. About 45.5% of the patients had a family history. The presence of malignancy was 33.5% in first-degree relatives and 11.0% in second-degree relatives. Of these, the parent BRCA 1 or 2 pathogenic/likely pathogenic variant was 14% (n=28) and the diagnosis age of parent was higher than the diagnosis age of the study subjects (Figure 1). The diagnosis ages of siblings or cousins and second-degree relatives were 44.5 and 40 years, respectively. Breast cancer Table 2 shows demographic and clinical characteristics of breast cancer patients who harbored BRCA pathogenic/ likely pathogenic variant. Breast cancer prevalence was 67% (95% CI 60.2 to 73.8 percent) in all patients, and the median age of those was 41.5 (34-50) years, and patients who diagnosed with breast cancer under 45 years was much more in BRCA1 pathogenic/likely pathogenic variant than BRCA2 pathogenic/likely pathogenic variant (73.4% vs 55.1%, p=0.03, respectively). Luminal (A or B) disease (without Her-2 positivity 44.5%, with Her-2 positivity 7.0%), triplenegative disease (43.8%), and only HER-2 mutant (2.3%) diseases were common subtypes. Triple negative breast cancer (TNBC) was the most common (60.5%) histopathology of BRCA1 pathogenic/likely pathogenic variant patients and hormone receptor-positive disease was the most common (79.6%) type of BRCA2 pathogenic/likely pathogenic variant patients (p<0.001). About 10.9% of the patients were diagnosed at the metastatic stage, there was no difference between BRCA1 vs BRCA2 pathogenic/likely pathogenic variant patients. Half of the patients had a positive family history regarding breast and ovarian cancers. The diagnosis age of parents who had BRCA related cancer was 51 (46-57.5) years, and it was 44 (35-49) years in siblings or cousins who had BRCA related cancer (Figure 2). About 58.3% of the relatives who had malignancy were diagnosed before 50 years and their cancers were mostly breast and ovarian cancers. Genital cancer Table 3 shows the clinical and demographic characteristics of patients with the BRCA pathogenic/likely pathogenic variant who had genital site tumors. The median age was significantly lower than parentís diagnosis age of BRCA related cancer (50 (44-59) vs 63 (58-68) years, respectively, p<0.05, Figure 2). On the other hand, the diagnosis age of patients was similar to their sibling or cousins who had BRCA related cancers (p>0.05, Figure 2). Ovarian cancer was the most common (92.1%) primary site, endometrium (3.2%), and peritoneum (1.6%) were detected as well. Serous adenocarcinoma was the most common histopathology and 14.3% of the patients had endometrioid adenocarcinoma. About 77.8% of them had the BRCA 1 pathogenic/likely pathogenic variant and 22.2% had the BRCA 2 pathogenic/likely pathogenic variant. About 38.1% of them had a positive family history. In additon, patients who had first-line progression-free survival time above 12 months were significantly more frequent in BRCA2 (100%) carriers compared with those in BRCA1 (56.3%) carriers (p=0.01). Other Table 4 shows data regarding the BRCA related prostate cancer patients. The median age was 57 (57-60) years. All of the patients were diagnosed at the castration-resistant time. The median time from metastasis to castrationresistant status was 28 (14-58) months. On the other hand, only 2 male patients had BRCA related pancreas cancer. The primary tumor was located at the corpus site of the pancreas.



Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006