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
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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 parent’s 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.
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