Abstract 379P
Background
About 10% cancers are due to cancer susceptibility genes. Testing of high risk patients according to NCCN guidelines is important for detection of hereditary cases and at-risk relatives for secondary prevention of cancer. The exact burden of germline mutations in Indian population is not known because of lack of education and unaffordability. We undertook this study for detection of hereditary cancer cases from Western India.
Methods
All patients who underwent testing from June 2015 to June 2019 for extended germline mutation panel of 96 genes using next generation sequencing (NGS) on Illumina platform were selected. Clinical data was analysed and correlated with the results.
Results
Out of total 290 patients counselled, 84 (28.9%) underwent genetic testing. Mutations were found in 63 % (53/84) patients whose median age was 44 years. 24.5% (13/53) had no positive family history of cancer. Most common malignancies were breast, 31; of which 15 were triple negative breast cancers, followed by ovary, 13 and colon, 4 cases. BRCA1/BRCA2 mutations were seen in 66% (35/53), MSH2 in 3 and MLH1 and RAD51D mutation in 2 patients each. 38 mutations were pathogenic, 4 likely pathogenic and 11 were Variant of Unknown Significance (VUS). Three novel BRCA1 mutations (c.1039delC, c.42_44dupGCT, c.68-5_77del) and one novel BRCA2 mutation (c.7342A>T) was identified. A rare TP53 mutation (c.(-29 + 1_-28-1)_(672 + 1_673-1)dup) was also identified in one patient, who had three metachronous malignancies.
Conclusions
Hereditary breast and ovarian cancer syndrome due to BRCA1/2 mutations was commonest in our study followed by Lynch syndrome due to MSH2 mutation. 20% VUS, 4 novel and 1 rare mutation were identified. Negative family history does not rule out hereditary predisposition. The knowledge shared would assist in further genetic testing and enable detection of more hereditary cancer cases.
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
133P - Prognostic and predictive factors from the phase III CELESTIAL trial of cabozantinib (C) versus placebo (P) in previously treated advanced hepatocellular carcinoma (aHCC)
Presenter: Thomas Yau
Session: Poster display session
Resources:
Abstract
134P - Identification, development and validation of a circulating miRNA-based diagnostic signature for early detection of gastric cancer
Presenter: Daisuke Izumi
Session: Poster display session
Resources:
Abstract
135P - The promising key genes associated with tumour microenvironment and prognosis of hepatocellular carcinoma
Presenter: Jing Fang
Session: Poster display session
Resources:
Abstract
136P - Helicobacter pylori-positive gastric diffuse large B-cell lymphoma: A subset with distinct prognostic features
Presenter: Yuan Cheng
Session: Poster display session
Resources:
Abstract
137P - Significant benefit of pyrotinib combined with SHR6390 in patients with multiline-resistant HER2-positive advanced gastric cancer
Presenter: Zuhua Chen
Session: Poster display session
Resources:
Abstract
138P - Incidence of supracarinal lymph node positivity in operated cases of total esophagectomy: Short term results from a tertiary cancer centre
Presenter: Akhil Palod
Session: Poster display session
Resources:
Abstract
139P - Prognostic usefulness of advanced lung cancer inflammation index in locally-advanced pancreatic carcinoma patients treated with radical chemoradiotherapy
Presenter: Ayberk Besen
Session: Poster display session
Resources:
Abstract
140P - Pancreaticoduodenectomy versus combined neoadjuvant chemotherapy and pancreaticoduodenectomy: Survival patterns among patients with stage II & III periampullary carcinoma
Presenter: Mai Abdelkader
Session: Poster display session
Resources:
Abstract
141P - A 13-gene signature of DNA repair predicts prognosis in gastric cancer patients
Presenter: Jinjia Chang
Session: Poster display session
Resources:
Abstract
142P - Relation between Interleukin -4 (590C/T) gene polymorphism and hepatocellular carcinoma risk in HBV and HCV patients
Presenter: Suzy Gohar
Session: Poster display session
Resources:
Abstract