ArticleJournal of human genetics2016
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 74 citations in OpenAlex.
- Pooled it
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- Alpelisib enhances cisplatin mediated cytotoxicity in non-mutated, PIK3CA-dependent high-grade serous ovarian cancer.Journal of ovarian research · 2026Article
- Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.Asian Pacific journal of cancer prevention : APJCP · 2024Article
- The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians.European journal of human genetics : EJHG · 2024Article
- Article
- Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.NPJ genomic medicine · 2024Article
- Prevalence of BRCA mutation in breast and ovarian cancer among women in India: A systematic review and meta-analysis protocol.PloS one · 2024Article
- Marginal Contribution of PathogenicJournal of cancer & allied specialties · 2024Article
- Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.Oncotarget · 2023Article
- Modeling the impact of data sharing on variant classification.Journal of the American Medical Informatics Association : JAMIA · 2023Article
- Somatic mutation detection andFrontiers in oncology · 2023Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Profile of Pathogenic Mutations and Evaluation of Germline Genetic Testing Criteria in Consecutive Breast Cancer Patients Treated at a North Indian Tertiary Care Center.Annals of surgical oncology · 2022Article
- Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.Frontiers in genetics · 2022Article
- Lipoprotein Lipase Deficiency.Indian journal of pediatrics · 2021Article
- Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology.JCO global oncology · 2020Article
- Identification of a Novel 19-bp Deletion Mutation inJournal of pediatric genetics · 2020Article
- Characterization of therapy-related acute leukemia in hereditary breast-ovarian carcinoma patients: role of BRCA1 mutation and topoisomerase II-directed therapy.Medical oncology (Northwood, London, England) · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer panel, which includes 13 genes strongly associated with risk of inherited BOC. Multi-gene sequencing was done on the Illumina MiSeq platform. Genetic variations were identified using the Strand NGS software and interpreted using the StrandOmics platform. We were able to detect pathogenic mutations in 51 (36.2%) cases, out of which 19 were novel mutations. When we considered familial breast cancer cases only, the detection rate increased to 52%. When cases were stratified based on age of diagnosis into three categories, ⩽40 years, 40-50 years and >50 years, the detection rates were higher in the first two categories (44.4% and 53.4%, respectively) as compared with the third category, in which it was 26.9%. Our study suggests that next-generation sequencing-based multi-gene panels increase the sensitivity of mutation detection and help in identifying patients with a high risk of developing cancer as compared with sequential tests of individual genes.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.