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
3911 - Defining a SUV decrease cut-off in PET/CT response monitoring after one cycle of preoperative breast cancer chemotherapy
Presenter: Marcin Kubeczko
Session: Poster Display session 2
Resources:
Abstract
1849 - Effect of thioredoxin 1 quantity detection to complement the mammography in breast cancer diagnosis
Presenter: Younju Lee
Session: Poster Display session 2
Resources:
Abstract
2221 - Identification of ultralow risk breast cancer patients (probable overdiagnosis)
Presenter: Salvador Gamez Casado
Session: Poster Display session 2
Resources:
Abstract
5291 - Prevalence of Vitamin D3 deficiency among women with early breast cancer receiving chemotherapy in an oncology dayward.
Presenter: Warner Finstad
Session: Poster Display session 2
Resources:
Abstract
4247 - Changes in ER pathway activity score during neoadjuvant letrozole to assess therapy response and predict disease free survival (DFS) in ER positive breast cancer patients
Presenter: Arran Turnbull
Session: Poster Display session 2
Resources:
Abstract
568 - Second primary malignancies in patients with breast cancer.
Presenter: Carlos Erasun Lecuona
Session: Poster Display session 2
Resources:
Abstract
1428 - Phase II randomized trial of neoadjuvant trastuzumab and pertuzumab (TP) with either palbociclib + letrozole (Pal+L) or paclitaxel (Pac) for elderly patients with estrogen receptor & HER2 positive (ER+/HER2+) Breast Cancer (BC) (International Breast Cancer Study Group IBCSG 55-17, TOUCH)
Presenter: Laura Biganzoli
Session: Poster Display session 2
Resources:
Abstract
1479 - Neoadjuvant HER2-targeted therapy with or without immunotherapy with pembrolizumab (neoHIP): an open label randomized phase 2 trial
Presenter: Heather McArthur
Session: Poster Display session 2
Resources:
Abstract
1481 - A randomized phase 2 study of peri-operative ipilimumab, nivolumab and cryoablation versus standard care in women with residual, early stage/resectable, triple negative breast cancer after standard-of-care neoadjuvant chemotherapy
Presenter: Heather McArthur
Session: Poster Display session 2
Resources:
Abstract
4334 - ALEXANDRA/IMpassion030: A phase 3 study of standard adjuvant chemotherapy with or without atezolizumab in early stage triple negative breast cancer.
Presenter: Michail Ignatiadis
Session: Poster Display session 2
Resources:
Abstract