Abstract 4110
Background
Impaired DNA damage response (DDR) mechanisms and subsequent genomic instability is associated with carcinogenic process itself, but it also results in sensitivity of tumor cells to certain drugs and can be exploited to treat cancer by inducing deadly mutations or mitotic catastrophe. As a result, BRCA1/2 testing is recommended for a group individuals with breast/ovarian cancer.
Methods
In this study, we retrospectively invesitigated clinicopathologic features of 303 breast cancer patients tested for BRCA 1/2 mutation in an oncology institute. NCCN recommendations are used to select patients to be tested for BRCA mutations.
Results
A total of 303 patients were analysed for BRCA 1/2 mutations. Median age of the patients at diagnoses were 40 (21-65). Family history for BRCA related cancers were detected in 120 patients (39.6%). BRCA 1/2 mutations have been shown in 98 of 303 patients (32.3%). Of 98 BRCA mutated patients, 43 had pathogenic BRCA1 mutation, 39 had pathogenic BRCA2 mutation, 11 had variant of uncertain significance (VUS) BRCA2 mutation, 3 had VUS BRCA1 mutation and 2 had pathogenic BRCA1 and 2 mutations. Molecular subtypes of tumors have been shown in Table.Table:
316P Molecular subtypes of tumors
BRCA Status | HR(+)/ HER2(-), N(%) | HR(+)/ HER2(+), N(%) | HR(-)/ HER2(+), N (%) | Triple(-), N (%) | N/A,N(%) |
---|---|---|---|---|---|
BRCA1 | 18 (41.8%) | 2 (4.6%) | 0 | 22 (51.1%) | 1 (2.3%) |
BRCA2 | 25 (64.1%) | 3 (7.7%) | 0 | 6 (15.3%) | 5 (12.8%) |
BRCA1 VUS | 2 (66.7%) | 0 | 0 | 1 (33.3%) | 0 |
BRCA2 VUS | 11 (100%) | 0 | 0 | 0 | 0 |
BRCA1 + 2 | 0 | 1 (50%) | 0 | 1 (50%) | 0 |
BRCA mut (-) | 126 (61.4%) | 25 (12.1%) | 12 (5.8%) | 32 (15.6%) | 10 (4.8%) |
TOTAL | 182 (60%) | 31 (10.2%) | 12 (3.9%) | 62 (20.4%) | 16 (5.2%) |
Twelve of 98 BRCA mutated patients (12.2%) were de novo metastatic while 15 patients (15.3%) faced with metastatic disease during follow-up. In the BRCA mutated group there was significantly high rate of metastatic disease has been detected comparing BRCA non-mutated group (27.5% vs %16.5% respectively, p = 0.026). Metastatic BRCA mutant patients showed worse OS numerically but data is not statistically significant (P = 0.894). Nine patients were diagnosed with contralateral breast cancer, and 3 patients was diagnosed with BRCA-related cancers during follow-up. Prophylactic surgery (contralateral mastectomy and/or oophorectomy) was performed in 32 of 98 patients.
Conclusions
According to this retrospective study, BRCA mutant patients tend to have worse clinical and pathological features comparing age-matched controls.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
Sercan Aksoy.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
740 - A real-world analysis of the treatment of advanced ovarian cancer with PARPIs
Presenter: Alejandra Martinez de Pinillos
Session: Poster Display session 2
Resources:
Abstract
5867 - Incidence of tumour BRCA1/2 variants in relapsed, platinum-sensitive ovarian, fallopian tube and primary peritoneal cancer
Presenter: Robert Morgan
Session: Poster Display session 2
Resources:
Abstract
2966 - Frequency of mutations in 21 hereditary breast and ovarian cancer susceptibility genes among 882 high-risk individuals
Presenter: Jihong Liu
Session: Poster Display session 2
Resources:
Abstract
1687 - BRCA testing of 1,284 Brazilian patients for hereditary breast and ovarian cancer in a routine diagnostic setting
Presenter: Fernanda Milanezi
Session: Poster Display session 2
Resources:
Abstract
3162 - A multi-center integrative study on cancer predisposition genes in Chinese patients with epithelial ovarian carcinoma
Presenter: Changbin Zhu
Session: Poster Display session 2
Resources:
Abstract
5993 - Incidental Early Occult Ovarian Cancer after Risk-Reducing Salpingo-Oophorectomy in BRCA1/2 Mutation Carriers followed in a Community Public Hospital
Presenter: Begona Grana Suarez
Session: Poster Display session 2
Resources:
Abstract
5334 - Response to chemotherapy in ovarian cancer (OC) patients with or without prior breast cancer (BC), stratified by BRCA mutation (BRCAm) status
Presenter: Angela George
Session: Poster Display session 2
Resources:
Abstract
4565 - Advanced ovarian cancer: is residual disease after debulking surgery affected by genetics factors involved in angiogenesis and immunity pathways?
Presenter: Michele Bartoletti
Session: Poster Display session 2
Resources:
Abstract
3251 - Surrogate endpoint of progression-free (PFS) and overall survival (OS) for advanced ovarian cancer (AOC) patients (pts) treated with neo-adjuvant chemotherapy (NACT): Results of the CHIVA randomized phase II GINECO study
Presenter: Fabrice Lecuru
Session: Poster Display session 2
Resources:
Abstract
3278 - Immune-Related Gene Expression Profiling after Neoadjuvant Chemotherapy (NACT) of Ovarian High-Grade Serous Carcinoma
Presenter: Luis Manso
Session: Poster Display session 2
Resources:
Abstract