ReviewThe international journal of biochemistry & cell biology2007
Functional assays for BRCA1 and BRCA2.
Review in The international journal of biochemistry & cell biology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis 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
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Pooled it
- Functional assays for BRCA1 and BRCA2 variant analysis: new tools and their applications.NPJ breast cancer · 2026Review
- Targeting ATR-CHK1 and ATM-CHK2 Axes in Pancreatic Cancer-A Comprehensive Review of Literature.International journal of molecular sciences · 2026Review
- BRCA1, BRCA2, and TP53 germline and somatic variants and clinicopathological characteristics of Brazilian patients with epithelial ovarian cancer.Cancer medicine · 2024Article
- Article
- Review
- A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.NPJ genomic medicine · 2020Article
- Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.Human mutation · 2019Article
- Functional investigation of theMolecular biology research communications · 2019Article
- Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.Human genomics · 2018Article
- Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.American journal of human genetics · 2018Article
- Prediction of breast cancer risk based on flow-variant analysis of circulating peripheral blood B cells.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variants.Human mutation · 2015Article
- Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.PloS one · 2014Article
- Article
- Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.PloS one · 2013Article
- A guide for functional analysis of BRCA1 variants of uncertain significance.Human mutation · 2012Review
- Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.Human molecular genetics · 2012Article
- A new assay for functional screening of BRCA2 linker region mutations identifies variants that alter chemoresistance to cisplatin.Experimental cell research · 2011Article
- A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Genetic testing for the two major breast cancer susceptibility genes has now been available for several years with more than 70,000 people tested in the USA alone. While the current genetic testing identifies many sequence alterations there are problems with both sensitivity and specificity of the assay. In particular, the genetic testing is limited in its ability to determine which of the many missense mutations identified in BRCA1 and BRCA2 actually predispose to cancer and which are simply neutral alterations. Here we will focus on the limitations in test result interpretation and we will explore how biochemistry and cell biology can help to clarify these issues. Although we limit our discussion to genetic testing of BRCA1 and BRCA2, the problem is common to an expanding group of genes, including ATM and MSH2, in which germ-line missense mutations may also confer increased risk of cancer. Here we advocate the use of functional assays to complement genetic data in the analysis of unclassified missense mutations and propose a set of standards to conduct and interpret these assays.
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.