ArticleProceedings of the National Academy of Sciences of the United States of America2010
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 238 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
238 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk.Statistics in medicine · 2025Pooled it
- Quantitative assessment of 2q35-rs13387042 polymorphism and hormone receptor status with breast cancer risk.PloS one · 2013Pooled it
- A phase 2 trial exploring the significance of homologous recombination status in patients with platinum sensitive or platinum resistant relapsed ovarian cancer receiving combination cediranib and olaparib.Gynecologic oncology · 2024Trial
- Randomized Trial of Olaparib With or Without Cediranib for Metastatic Castration-Resistant Prostate Cancer: The Results From National Cancer Institute 9984.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Trial
- Cisplatin with veliparib or placebo in metastatic triple-negative breast cancer and BRCA mutation-associated breast cancer (S1416): a randomised, double-blind, placebo-controlled, phase 2 trial.The Lancet. Oncology · 2023Trial
- Rare loss of function variants in candidate genes and risk of colorectal cancer.Human genetics · 2018Trial
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- HRDetect in Tubo-ovarian Carcinoma: Stratification and Therapeutic Implications.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Article
- Broad germline variant spectrum revealed by whole-exome sequencing in an underrepresented Latin American population with hereditary breast cancer.Human genomics · 2026Article
- Article
- Putative breast cancer risk variants from populations of South Asian ancestry are under-represented in public variant classification databases.Breast cancer research : BCR · 2026Article
- Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The Spectrum of Genetic Mutations Among Patients with Hereditary Breast and Ovarian Cancer.Journal of clinical medicine · 2025Article
- TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.Journal of the National Cancer Institute · 2025Article
- Revealing neuroendocrine transformation in gynecological cancers through genomic analysis.NPJ precision oncology · 2025Article
- Early breast cancer in youngTherapeutic advances in medical oncology · 2025Review
- Long-read DNA and cDNA sequencing identify cancer-predisposing deep intronic variation in tumor-suppressor genes.Genome research · 2024Article
- Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.Current issues in molecular biology · 2024Article
- Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.JCO precision oncology · 2024Article
- R-Loop Accumulation in Spliceosome Mutant Leukemias Confers Sensitivity to PARP1 Inhibition by Triggering Transcription-Replication Conflicts.Cancer research · 2024Article
178 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer-associated inherited mutations in these genes are collectively quite common, but individually rare or even private. Genetic testing for BRCA1 and BRCA2 mutations has become an integral part of clinical practice, but testing is generally limited to these two genes and to women with severe family histories of breast or ovarian cancer. To determine whether massively parallel, "next-generation" sequencing would enable accurate, thorough, and cost-effective identification of inherited mutations for breast and ovarian cancer, we developed a genomic assay to capture, sequence, and detect all mutations in 21 genes, including BRCA1 and BRCA2, with inherited mutations that predispose to breast or ovarian cancer. Constitutional genomic DNA from subjects with known inherited mutations, ranging in size from 1 to >100,000 bp, was hybridized to custom oligonucleotides and then sequenced using a genome analyzer. Analysis was carried out blind to the mutation in each sample. Average coverage was >1200 reads per base pair. After filtering sequences for quality and number of reads, all single-nucleotide substitutions, small insertion and deletion mutations, and large genomic duplications and deletions were detected. There were zero false-positive calls of nonsense mutations, frameshift mutations, or genomic rearrangements for any gene in any of the test samples. This approach enables widespread genetic testing and personalized risk assessment for breast and ovarian cancer.
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.