Abstract 5839
Background
Biliary tract cancers (BTCs) are rare. They are clinically and pathologically heterogeneous and associated with a poor prognosis. BRCA 1/2 are tumor suppressor genes responsible for a high number of hereditary breast and ovarian cancers. BRCA2 mutations are also associated with higher risk of other cancers, including prostate and pancreatic cancers. BTC-associated with BRCA mutation is still unclear. In this study, we analyzed the frequency and characteristics of BTCs in confirmed BRCA Portuguese families.
Methods
Retrospective analysis of all BRCA1/2 families registered in our multidisciplinary program since January 2000 was performed. All cases of BTCs, on the mutated side of the family were included.
Results
From 513 BRCA1/2 families, 187 were BRCA1 and 325 BRCA2. BRCA2 c.156_157insAlu - the Portuguese founder mutation - was observed in 101 families. We identified BTCs in seven BRCA2 families, five of which were c.1567_157insAlu. Overall, 7 cases of BTCs were identified (5 with pathological confirmation): 5 BRCA2 carriers and 2 first-degree relatives of BRCA2 carriers. Median age at diagnosis was 63 years, with male and female prevalence rates of 57% and 43%, respectively. Two cases of BTC were diagnosed in two female survivors of breast cancer. One female survivor of BT developed peritoneal carcinoma after prophylactic salpingo-oophorectomy. All BRCA2 families revealed a heterogeneous phenotype: 5 out of 7 families have aggregation to pancreatic and/or stomach cancers. Four patients died, three from BTC disease progression and one from peritoneal carcinoma. The other 3 patients are alive without relapse.
Conclusions
BRCA-associated BTCs are uncommon. Surveillance and prophylactic surgery reduces the risk of death from breast and ovarian cancer in BRCA2 carries allowing the diagnosis of other type of cancer during the follow-up, such as BTCs. Therefore, it is crucial the development of surveillance protocols for gastrointestinal tumours. Diagnosis of BTC-associated germline BRCA mutations might have clinical implications, expanding roles in treatment planning and allowing application of targeted therapies.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
All authors have declared no conflicts of interest.
Resources from the same session
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
4906 - Tumor-infiltrating lymphocytes (TILs) in patients with epithelial ovarian cancer undergoing neoadjuvant chemotherapy: A restrospective study
Presenter: Sara Giovannoni
Session: Poster Display session 2
Resources:
Abstract
3919 - Prognostic significance of elements of the adaptive immunity in the microenvironment of epithelial ovarian cancer.
Presenter: Periklis Foukas
Session: Poster Display session 2
Resources:
Abstract
5139 - Neutrophil-to-lymphocyte ratio predicts platinum sensitivity in epithelial ovarian cancer patients: a MITO24 retrospective study
Presenter: Alberto Farolfi
Session: Poster Display session 2
Resources:
Abstract
4212 - The prognostic impact of monocyte to lymphocyte ratio (MLR) in advanced epithelial ovarian cancer (EOC)
Presenter: Marc Cucurull Salamero
Session: Poster Display session 2
Resources:
Abstract
5123 - TP53 Hotspot mutations as immunoreactive neoantigens define a signature with differential survival outcomes in advanced ovarian cancer
Presenter: Marica Garziera
Session: Poster Display session 2
Resources:
Abstract
3795 - Use of bevacizumab (Bev) in real life for first-line (fl) treatment of ovarian cancer (OC)/ The GINECO ENCOURAGE cohort of 500 French patients
Presenter: Dominique Berton-Rigaud
Session: Poster Display session 2
Resources:
Abstract
2359 - Phase II study: Letrozole maintenance therapy after first line chemotherapy in patients with advanced serous and endometrioid ovarian cancer
Presenter: Alexandra Tyulyandina
Session: Poster Display session 2
Resources:
Abstract
3619 - Baseline IPI (Immune Prognostic Index) predicts survival in patients with advanced cervical cancer treated with immune checkpoint inhibitors (ICI).
Presenter: Felix Blanc-Durand
Session: Poster Display session 2
Resources:
Abstract
3474 - Preselecting tumor-infiltrating lymphocyte subsets to implement adoptive inmmunotherapy in ovarian cancer
Presenter: Diego Salas-Benito
Session: Poster Display session 2
Resources:
Abstract