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
5134 - Early prediction of the platinum-resistant relapse risk using the CA125 modeled kinetic parameter KELIM: a pooled analysis of AGO-OVAR 7 & 9; ICON 7 (AGO/GINECO/ MRC CTU/GCIG trials).
Presenter: OLIVIER COLOMBAN
Session: Poster Display session 2
Resources:
Abstract
4410 - Mirvetuximab soravtansine, a folate receptor alpha (FRa)-targeting antibody-drug conjugate (ADC), in combination with carboplatin and bevacizumab: Initial results from a Phase 1b study in patients (pts) with ovarian cancer
Presenter: David Omalley
Session: Poster Display session 2
Resources:
Abstract
5077 - Response to Pegylated Liposomal Doxorubicin (PLD) and Weekly Paclitaxel (wpac) in Platinum Resistant (PR) Ovarian Cancer (OC) by BRCA mutation status
Presenter: Louise Bremer
Session: Poster Display session 2
Resources:
Abstract
3483 - Impact of prior pegylated liposomal doxorubicin (PLD) treatment in recurrent ovarian cancer (ROC): Sub-group analysis from a randomized, open-label study comparing trabectedin (T) and PLD versus PLD alone in ROC (ET743-OVC-3006)
Presenter: Bradley Monk
Session: Poster Display session 2
Resources:
Abstract
5423 - OCTAVE - A phase I study of enadenotucirev, an oncolytic group B adenovirus, in combination with weekly paclitaxel in platinum-resistant epithelial ovarian cancer
Presenter: Iain McNeish
Session: Poster Display session 2
Resources:
Abstract
1385 - Phase I study of low dose whole abdominal radiation therapy (LDWART) in combination with weekly paclitaxel (wP) for platinum resistant ovarian cancer (PROC)
Presenter: Natalie Ngoi
Session: Poster Display session 2
Resources:
Abstract
2090 - Phase 1b/2a study assessing the safety and efficacy of adding AL3818 (Anlotinib) to standard platinum-based chemotherapy in subjects with recurrent or metastatic endometrial, ovarian or cervical carcinoma
Presenter: David Miller
Session: Poster Display session 2
Resources:
Abstract
1960 - Phase I Study of Intraperitoneal TRX-E-002-1 in Subjects with Persistent or Recurrent Ovarian, Fallopian Tube or Primary Peritoneal Cancer: Three-month Follow-up Results of the Dose Escalation Phase
Presenter: Jermaine Coward
Session: Poster Display session 2
Resources:
Abstract
4288 - Hybrid capture-based genomic profiling of circulating tumor DNA (ctDNA) from patients with ovarian cancer
Presenter: Mi Yang
Session: Poster Display session 2
Resources:
Abstract
3433 - Tumor Microvessel Density for predicting Nintedanib activity: data from the randomized CHIVA trial (a GINECO study)
Presenter: Maud Villemin
Session: Poster Display session 2
Resources:
Abstract