Abstract 315P
Background
Breast cancer is the most common cancer seen in women worldwide. In the Philippines, 24,798 cases of breast cancer were diagnosed in 2018, making up 17.6% of 141,021 newly diagnosed cases of cancer in the country. Genetic counseling and testing for hereditary cancers is a relatively new undertaking for medical oncologists in the Philippines. Previous studies show that prevalence of BRCA mutations in Filipinos is 5.1% to 6.8%, which is consistent with data found in the Asian population. However, no studies have yet been done looking at multigene panel testing for Filipino patients who meet the testing criteria for high-penetrance breast and/or ovarian cancer susceptibility genes.
Methods
From September 2019 to May 2020, we did multigene panel testing (Invitae Multi-Cancer Panel) for patients who met the testing criteria for high-penetrance breast and/or ovarian cancer susceptibility genes (NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020 – December 4, 2019). We tested 24 patients (23 females, 1 male; 29-81 years old), including 14 with breast cancer, 4 with ovarian cancer, 1 with both breast and ovarian cancer, 2 with pancreatic cancer, and 3 with no cancer but strong family history.
Results
Among the 24 patients tested, none had pathogenic BRCA1/2 mutations. However, one (4%) had a pathogenic PALB2 mutation (c.757_758del (p.Leu253Ilefs*3)), fourteen (58%) had one or more variants of uncertain significance (ALK, ATM, BARD1, BRCA2, CDKN1B, EGFR, KIT, MSH2, MSH6, MUTYH, NF1, NTHL1, POLE, RAD51D, RECQL4, SDHA, SDHB, SMARCA4, SMARCB1, TSC1), and nine (38%) had negative results.
Conclusions
As cancer genetics becomes more mainstream, use of multigene panels has been increasing, and cost of testing has been decreasing, making this more accessible to the average Filipino cancer patient. This is the first study to document the presence of other high-penetrance breast and/or ovarian cancer susceptibility genes in Filipinos. However, more research has to be done as we still do not know all the genes that may cause hereditary breast cancer and use of multigene panels increases the rates of detecting variants of uncertain significance and other incidental findings.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The author.
Funding
Has not received any funding.
Disclosure
F.V.F. Que: Honoraria (self), Research grant/Funding (institution), Travel/Accommodation/Expenses: AstraZeneca; Honoraria (self): Roche; Honoraria (self): Novartis; Honoraria (self), Travel/Accommodation/Expenses: Camber Pharmaceuticals; Honoraria (self): Global Medical Technologies; Travel/Accommodation/Expenses: Astellas.
Resources from the same session
123P - The clinical value of prognostic nutritional index in esophagogastric junctional adenocarcinoma patients with anastomotic leakage after surgery
Presenter: Yan Wang
Session: e-Poster Display Session
124P - Prospective evaluation of pattern of care and quality of life in patients undergoing esophagectomy at a high-volume regional cancer centre in South India
Presenter: Faheem Abdulla
Session: e-Poster Display Session
125P - Analysis of esophageal cancer incidence for last 20 years in Uzbekistan
Presenter: Abrorjon Yusupbekov
Session: e-Poster Display Session
126P - A phase II study of rh-endostatin combined with irinotecan plus cisplatin as the second-line treatment for advanced esophageal squamous cell carcinoma (ESCC)
Presenter: Jianhua Chang
Session: e-Poster Display Session
128P - Clinical update with plasma and tumour-based genomic analyses in expansion part of phase I study of selective FGFR inhibitor E7090
Presenter: Chigusa Morizane
Session: e-Poster Display Session
129P - Exploration of the best candidates for splenic hilar lymph node dissection (No.10 LND) based on long-term survival: Stage IIIA proximal gastric cancer may benefit from No.10 LND
Presenter: Zu-Kai Wang
Session: e-Poster Display Session
130P - Reappraisal of the role of no. 10 lymphadenectomy for proximal gastric cancer in the era of minimal invasive surgery during total gastrectomy: A pooled analysis of 4 prospective trials
Presenter: Qing Zhong
Session: e-Poster Display Session
131P - Prognostic value of tumour regression grading (TRG) in patients treated with neoadjuvant chemotherapy plus surgery for gastric cancer
Presenter: Jian-Wei Xie
Session: e-Poster Display Session
132P - Impact of increasing age on cancer- and noncancer-specific mortality in patients with gastric cancer treated by radical surgery: A competing risk analysis
Presenter: Long-Long Cao
Session: e-Poster Display Session