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
3330 - Tumour-infiltrating lymphocytes and BRCA-like status in stage III breast cancer patients treated with intensified carboplatin-based chemotherapy
Presenter: Leonora De Boo
Session: Poster Display session 2
Resources:
Abstract
3971 - Unravelling the biological characteristics of MammaPrint extreme risk subgroups
Presenter: Rajith Bhaskaran
Session: Poster Display session 2
Resources:
Abstract
5871 - Residual Cancer burden as a prognostic factor in a large series of Neoadjuvant chemotherapy. Subgroup analysis per molecular surrogated subtypes
Presenter: Catalina Falo
Session: Poster Display session 2
Resources:
Abstract
5014 - Clinical validation of CanAssist Breast in a Spanish cohort
Presenter: Manjiri Bakre
Session: Poster Display session 2
Resources:
Abstract
2787 - Meta-analysis on association of pathological complete response with long-term survival outcomes in triple-negative breast cancer
Presenter: Peter A. Fasching
Session: Poster Display session 2
Resources:
Abstract
4301 - Immune infiltrate composition across intrinsic subtypes in hormone receptor (HR)+/HER2- early breast cancer (BC) enrolled in the prospective LETLOB trial
Presenter: Gaia Griguolo
Session: Poster Display session 2
Resources:
Abstract
3205 - Frequency of germline mutations in women's cancer susceptibility genes in a large cohort of Chinese breast cancer patients
Presenter: Ning Liao
Session: Poster Display session 2
Resources:
Abstract
4091 - Triple blinded Prospective Study assessing the Impact of Genomics & Artificial Intelligence Watson For Oncology (WFO) on MDT’s Decision of Adjuvant Systemic Therapy for Hormone Receptor Positive Early Breast Carcinoma-
Presenter: Somashekhar Sampige Prasannakumar
Session: Poster Display session 2
Resources:
Abstract
4359 - Prognostic significance of Progesterone Receptor levels in luminal-like Her2- early Breast Cancer patients. A retrospective single Cancer Center analysis.
Presenter: Anna Diana
Session: Poster Display session 2
Resources:
Abstract
1369 - PAM50 HER2-enriched subtype and pathological complete response in HER2-positive early breast cancer: a meta-analysis
Presenter: Francesco Schettini
Session: Poster Display session 2
Resources:
Abstract