Damborsky, Jiri

Foretova, Lenka

Horky, Ondrej

Kosinova, Veronika

Kuklova, Jitka

Lukesova, Miroslava

Machackova, Eva

Navratilova, Marie

Pavlu, Hana

Vasickova, Petra

Springer - Publisher Connector

PubMed Central

English

BH: Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genet Cytogenet

BL: Breast and ovarian cancer.

BL: Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing.

Breast Cancer Linkage Consortium: Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev

Bressac de-Paillerets B, Lidereau R: Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families. Clin Genet

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat Struct Biol

D'Andrea E: Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet

D'Andrea E: Identification of BRCA1 and BRCA2 by carriers by allele-specific gene expression (AGE) analysis.

Devilee P: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet

Exclusion of large deletions and other rearrangementsin BRCA1 and BRCA2 in Finnish breast and ovarian cancer families. Cancer Genet Cytogenet

G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res

Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat

Glover JNM: Detection of protein folding defects caused by BRCA1 -BRCT truncation and missense mutations.

Glover JNM: Structural consequences of a cancercausing BRCA1 -BRCT missense mutation.

GR: The detection of large deletions or duplications in genomic DNA. Hum Mutat

Information Core internet web site

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. P r o c N a t l A c a d S c i U S A

JNM: Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. Nat Struct Biol

kConFab Investigators: Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families.

Ladias JA: Structural basis for cell cycle checkpoint control by the BRCA1 -CtIP complex. Biochemistry

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat

Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative Method. Cancer Res

LM: In-frame deletions of BRCA1 may define critical functional domains. Hum Genet

Mazoyer S: Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot.

MC: Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res

MC: Complex germline rearrangements of BRCA1 associated with breast and ovarian cancer. Genes Chromosomes Cancer

Nasioulas G: Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments. Hum Mutat

S: Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res

Schackert HK: Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method. Hum Mutat

SG: Roles of BRCA1 and its interacting proteins. Bioessays

SJ: Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. Nat Struct Mol Biol

SL: Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet

Stoppa-Lyonnet D: Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families.

Stoppa-Lyonnet D: Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements. Genes Chromosomes Cancer

Stoppa-Lyonnet D: Significant contribution of large genomic rearrangements in 120 French breast cancer families. Oncogene

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. Nat Struct Mol Biol

Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol Cell

the Breast Cancer Linkage Consortium: Genetic heterogeneity and penetrance of the BRCA1 and BRCA2 genes in breast cancer families.

the Nomenclature Working Group: Recommendations for a nomenclature system for human gene mutations. Hum Mutat

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. Hum Mol Genet

Valik D: BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. Hum Mutat

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic

Abstract Background The incidence of breast cancer has doubled over the past 20 years in the Czech Republic. Hereditary factors may be a cause of young onset, bilateral breast or ovarian cancer, and familial accumulation of the disease. <it>BRCA1 </it>and <it>BRCA2 </it>mutations account for an important fraction of hereditary breast and ovarian cancer cases. One thousand and ten unrelated high-risk probands with breast and/or ovarian cancer were analysed for the presence of a <it>BRCA1 </it>or <it>BRCA2 </it>gene mutation at the Masaryk Memorial Cancer Institute (Czech Republic) during 1999–2006. Methods The complete coding sequences and splice sites of both genes were screened, and the presence of large intragenic rearrangements in <it>BRCA1 </it>was verified. Putative splice-site variants were analysed at the cDNA level for their potential to alter mRNA splicing. Results In 294 unrelated families (29.1% of the 1,010 probands) pathogenic mutations were identified, with 44 different <it>BRCA1 </it>mutations and 41 different <it>BRCA2 </it>mutations being detected in 204 and 90 unrelated families, respectively. In total, three <it>BRCA1 </it>founder mutations (c.5266dupC; c.3700_3704del5; p.Cys61Gly) and two <it>BRCA2 </it>founder mutations (c.7913_7917del5; c.8537_8538del2) represent 52% of all detected mutations in Czech high-risk probands. Nine putative splice-site variants were evaluated at the cDNA level. Three splice-site variants in <it>BRCA1 </it>(c.302-3C>G; c.4185G>A and c.4675+1G>A) and six splice-site variants in <it>BRCA2 </it>(c.475G>A; c.476-2>G; c.7007G>A; c.8755-1G>A; c.9117+2T>A and c.9118-2A>G) were demonstrated to result in aberrant transcripts and are considered as deleterious mutations. Conclusion This study represents an evaluation of deleterious genetic variants in the <it>BRCA1 </it>and <it>2 </it>genes in the Czech population. The classification of several splice-site variants as true pathogenic mutations may prove useful for genetic counselling of families with high risk of breast and ovarian cancer.</p

A Antoniou

A Meindl

B Gorski

BH Spain

D Ford

DF Easton

Eva Machackova

H Ruffner

Hana Pavlu

I Bieche

Ilse Coene

JD Hoffman

Jitka Kuklova

K Claes

Kathleen Claes

L Foretova

Lenka Foretova

LJ Fang

LS Friedman

M Thomassen

Marie Navratilova

MG Reese

Mirka Lukesova

MP Lux

MR O'Donovan

P Vasickova

Petra Vasickova

PS Brzovic

S Mazoyer

SA Narod

SE Antonarakis

T Judkins

Veronika Kosinova

Crossref

Directory of Open Access Journals

Ghent University Academic Bibliography

AM: A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13. Genet Test

Breast Cancer Linkage Consortium: Breast and ovarian cancer incidence in BRCA1-mutation carriers.

Cancerpredisposing mutations within the RING domain of BRCA1: Loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. PNAS

DF: Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.

Extended-term cultures of human T-lymphocytes: a practical alternative to primary human lymphocytes for use in genotoxicity testing. Mutagenesis

Foretova L: High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic. BMC Med Genet

Founder mutations in the BRCA1 gene in Polish families with breast-ovarian Cancer.

Genetic and preventive services for hereditary breast and ovarian cancer in the Czech Republic. Hereditary Cancer in Clinical Practice

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.

German Consortium for Hereditary Breast and Ovarian Cancer: Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

GM: A polymorphic stop codon in BRCA2. Nat Genet

IM: Truncated BRCA2 is cytoplasmic: Implications for cancer-linked mutations. Proc Natl Acad Sci USA

Implications of a novel cryptic splice site in the BRCA1 gene.

Improved splice site detection in Genie.

King MC: Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

Klevit RE: BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions.

L: BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

Lidereau R: Somatic genetics of breast cancer. Bull Cancer

Messiaen L: Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer

Modifiers of risk of hereditary breast and ovarian cancer. Nat Rev Cancer

MW: Hereditary breast and ovarian cancer: review and future perspectives.

Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. Mutation Research

Thirion JP: A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer