Abstract 4628
Background
Gastric cancer (GC) risk is associated with Tp53 and ATM mutations but the inclusion of GC in the BRCA2 phenotype is still controversial due to confounding risk factors. Because of the high incidence of GC in Portugal and as 2/3 of all our HBOC families are BRCA2, to include or not GC surveillance in prospective follow up is of utmost importance. The objective of this study is to characterize GC diagnoses observed in a prospective cohort of BRCA1/2, Tp53 and ATM carriers to gain insight for future studies.
Methods
Review of all GC diagnoses in BRCA1/2, TP53 and ATM carriers under prospective surveillance and analysis of family data regarding GC.
Results
Data from 830 pts, 723 with a confirmed genetic diagnosis (BRCA2-488, BRCA1-205 Tp53-15, ATM-14, BRCA1/2-1pt) belonging to 534 non-related families (BRCA2-325, BRCA1-187, Tp53-12, ATM-9, both BRCA1/2-1) was reviewed. GC was reported in 15 BRCA1 (8%), 52 BRCA2 (16%), 4 ATM (44%) and 4 Tp53 (33%) families. More than 1 GC case was reported in 20%, 12%, 50%, 25% of BRCA1, BRCA2, ATM and Tp53 families, respectively. Pathological confirmation was available in 12 pts: 10 BRCA2 (2 GEJ, 60% male, median age at diagnosis 59,4 yrs), 1 ATM (male, 74 yrs), 1 p53 (female, 42 yrs). Pathology: 5 intestinal type, 2 signet ring cells, 4-other (including 1 NE tumor). Only five of 12 pts had GC as the only neoplastic diagnosis. For a median follow up of 39 months, 5 pts (42%) are alive, only 2 without relapse. Only 1 pt with signet ring cell GC was submitted to CT and an objective response was observed. GC was the cause of 71% of deaths.
Conclusions
Confirmed GC in BRCA2 carriers revealed a high morbidity and mortality. Unexpected response to platin therapy was observed in a signet ring cell case. Since management of BRCA2 carriers include measures that impact on survival, clarification of BRCA2 association with GC is necessary for better prospective surveillance plans, and eventually personalized therapeutic approaches.
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
3248 - Second-line palliative systemic treatment for synchronous metastatic esophagogastric cancer: a population-based study
Presenter: Willemieke Dijksterhuis
Session: Poster Display session 2
Resources:
Abstract
4331 - STING Agonist, ADU-S100, Yields Potent Antitumor Activity and Therapeutically Favorable Immune Profile in an Esophageal Adenocarcinoma Model
Presenter: Ali Zaidi
Session: Poster Display session 2
Resources:
Abstract
1770 - Increased assessment of HER2 in metastatic gastroesophageal cancer patients: a nationwide population-based cohort study
Presenter: Willemieke Dijksterhuis
Session: Poster Display session 2
Resources:
Abstract
3755 - A new docetaxel (DOC)-based triplet regimen does not improve the outcome of metastatic (M) or locally advanced (LA) gastric cancer (GC) as compared with an epirubicin (EPI) standard triplet regimen: a GISCAD trial.
Presenter: Roberto Labianca
Session: Poster Display session 2
Resources:
Abstract
2439 - The analysis of T cell subsets and clinical efficacy of immune checkpoint blockades in patients with advanced gastric cancer using multiplex immunohistochemistry
Presenter: Tae-yong Kim
Session: Poster Display session 2
Resources:
Abstract
2211 - First-line pembrolizumab (P), trastuzumab (T), capecitabine (C) and oxaliplatin (O) in HER2-positive metastatic esophagogastric adenocarcinoma.
Presenter: Yelena Janjigian
Session: Poster Display session 2
Resources:
Abstract
3046 - Monitoring patient-specific mutation in ctDNA and CTC for tumor response evaluation after neoadjuvant chemotherapy in locally advanced gastric cancer (NCT03425058)
Presenter: Tao Fu
Session: Poster Display session 2
Resources:
Abstract
2127 - Interim analysis of an observational/translational study for nivolumab treatment in advanced gastric cancer: JACCRO GC-08 (DELIVER trial)
Presenter: Yu Sunakawa
Session: Poster Display session 2
Resources:
Abstract
2264 - Prediction of S-1 adjuvant chemotherapy efficacy in Stage II/III gastric cancer treatment based on comprehensive gene expression analysis
Presenter: Masanori Terashima
Session: Poster Display session 2
Resources:
Abstract
2444 - Assessing the clinical utility of circulating tumour DNA through longitudinal liquid biopsy sampling in Oesophageal adenocarcinoma
Presenter: Emma Ococks
Session: Poster Display session 2
Resources:
Abstract