ArticleFamilial cancer2017
Detection of false positive mutations in BRCA gene by next generation sequencing.
Article in Familial cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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.
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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.
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Who cites it
7 citing papers in PubMed.
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- Stress, anxiety, and health-related quality of life in BRCA1/2-positive women with and without cancer: A comparison of four US female samples.Gynecologic oncology reports · 2022Article
- Perceptions and care Recommendations from Previvors: Qualitative analysis of female BRCA1/2 mutation Carriers' experience with genetic testing and counseling.Gynecologic oncology reports · 2022Article
- BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.Frontiers in cell and developmental biology · 2022Review
- Main implications related to the switch toOncotarget · 2018Article
- GermlineCancer management and research · 2018Article
- [Hereditary breast and ovarian cancer].Der Pathologe · 2017Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BRCA1 and BRCA2 genes are implicated in 20-25% of hereditary breast and ovarian cancers. New age sequencing platforms have revolutionized massively parallel sequencing in clinical practice by providing cost effective, rapid, and sensitive sequencing. This study critically evaluates the false positives in multiplex panels and suggests the need for careful analysis. We employed multiplex PCR based BRCA1 and BRCA2 community Panel with ion torrent PGM machine for evaluation of these mutations. Out of all 41samples analyzed for BRCA1 and BRCA2 five were found with 950_951 insA(Asn319fs) at Chr13:32906565 position and one sample with 1032_1033 insA(Asn346fs) at Chr13:32906647, both being frame-shift mutations in BRCA2 gene. 950_951 insA(Asn319fs) mutation is reported as pathogenic allele in NCBI dbSNP. On examination of IGV for all these samples, it was seen that both mutations had 'A' nucleotide insertion at 950, and 1032 position in exon 10 of BRCA2 gene. Sanger Sequencing did not confirm these insertions. Next-generation sequencing shows great promise by allowing rapid mutational analysis of multiple genes in human cancer but our results indicate the need for careful sequence analysis to avoid false positive results.
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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.