High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays

Schroeder, Christopher; Stutzmann, Fanny; Weber, Bernhard H. F.; Rieß, Olaf; Bonin, Michael

doi:10.1007/s10549-009-0639-z

Cited by 18 publications

(13 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We also compared the results of the two technologies. The overall mean call rate of our custom array by GSEQ software was 95.7%, which is comparable with previous (Bruce et al 2010;Chiou et al 2011;Jensen et al 2011;Schroeder et al 2010). The call rates became higher as the number of patients increased.…”

Section: Discussionsupporting

confidence: 84%

“…This technology has been used for multiple-gene analysis in childhood hearing loss (Kothiyal et al 2010), breast-ovarian cancer syndrome (Schroeder et al 2010), dilated cardiomyopathy (Zimmerman et al 2010), X-linked intellectual disability (Jensen et al 2011), familial hypercholesterolemia (Chiou et al 2011), and hypertrophic cardiomyopathy (Fokstuen et al 2011). DiVerent research groups have shown ResAT to be a highly eYcient, relatively accurate, cost-eVective, and rapid method.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

et al. 2011

View full text Add to dashboard Cite

Aortic aneurysm and/or dissection (AAD) is a life-threatening condition, and several syndromes are known to be related to AAD. In this study, two new technologies, resequencing array technology (ResAT) and next-generation sequencing (NGS), were used to analyze eight genes associated with syndromic AAD in 70 patients with non-syndromic AAD. Eighteen sequence variants were detected using both ResAT and NGS. In addition one of these sequence variants was detected by ResAT only and two additional variants by NGS only. Three of the 18 variants are likely to be pathogenic (in 4.3% of AAD patients and in 8.6% of a subset of patients with thoracic AAD), highlighting the importance of genetic analysis in non-syndromic AAD. ResAT and NGS similarly detected most, but not all, of the variants. Resequencing array technology was a rapid and efficient method for detecting most nucleotide substitutions, but was unable to detect short insertions/deletions, and it is impractical to update custom arrays frequently. Next-generation sequencing was able to detect almost all types of mutation, but requires improved informatics methods.

show abstract

Section: Discussionsupporting

confidence: 84%

Section: Introductionmentioning

confidence: 99%

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

et al. 2011

View full text Add to dashboard Cite

show abstract

“…Other applications of next-generation sequencing to genetic testing of BRCA1 and BRCA2 have been suggested (22)(23)(24). The approach described here differs in that we evaluated multiple genes, in addition to BRCA1 and BRCA2, and we evaluated all classes of mutation.…”

Section: Discussionmentioning

confidence: 99%

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Walsh¹,

Lee²,

Casadei³

et al. 2010

Proc. Natl. Acad. Sci. U.S.A.

440

385

View full text Add to dashboard Cite

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.nherited mutations in BRCA1 and BRCA2 predispose to high risks of breast and ovarian cancer. Lifetime risks of breast cancer are as high as 80% among women with mutations in these genes, and lifetime risks of ovarian cancer are greater than 40% for carriers of BRCA1 mutations and greater than 20% for carriers of BRCA2 mutations (1). Inherited mutations in the Fanconi anemia genes BRIP1 (FANCJ) and PALB2 (FANCN) are associated with 20-50% lifetime risks of breast cancer (2, 3). Inherited mutations in TP53, PTEN, STK11, and CDH1 are associated with moderate to very high risks of breast cancer in the context of Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeughers syndrome, and hereditary diffuse gastric cancer syndrome, respectively (4, 5, 6, 7). Inherited mutations in several of the genes responsible for hereditary nonpolyposis colon cancer and endometrial cancer are also associated with elevated risks of ovarian cancer (8).Genetic testing for BRCA1 and BRCA2 mutations has become an integral part of clinical practice for women with severe family histories of breast or ovarian cancer, whether newly diagnosed or still clinically asymptomatic. However, as many as 50% of breast cancer patients with inherited mutations in BRCA1 and BRCA2 do not have close relatives with breast or ovarian cancer because their mutation is paternally inherited, the family is small, and by chance no sisters or paternal au...

show abstract

“…The entire data set was also analysed using SeqC (JSI medical systems, Kippenheim, Germany) as previously described. 4 RT-PCR and measurement of ACSL4 and SLC6A8 activity RT-PCR was performed according to standard protocols. Enzymatic activity of ACSL4 and the urinary creatine/creatinine ratio were measured as described previously.…”

Section: Discussionmentioning

confidence: 99%

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

et al. 2011

Self Cite

View full text Add to dashboard Cite

High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays

Cited by 18 publications

References 25 publications

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

Contact Info

Product

Resources

About