Top brca1 Articles in Oncology

A Role for BRCA1 in Uterine Leiomyosarcoma
Cancer Research, 11/02/2009

Xing D et al. – BRCA1 protein is absent in 29% of human ULMS and that BRCA1 promoter methylation is the likely mechanism of BRCA1 downregulation. These data indicate that the loss of BRCA1 function may be an important step in the progression of ULMS ... findings provide a rationale for investigating therapies that target BRCA1 deficiency in ULMS. [more...]

Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers
Journal of Clinical Oncology, 10/29/2009

Graeser MK et al. –The goal of this study was to estimate the risk for contralateral breast cancer in members of BRCA1- and BRCA2-positive families and to determine predictive risk factors. Contralateral breast cancer risk ... p> Methods Retrospective, multicenter, cohort study 2,020 women with unilateral breast cancer from 978 families who had BRCA1 or BRCA2 mutation Cox regression analysis applied to assess association of age at first breast cancer with time from first to ... from families with BRCA1 or BRCA2 mutations Members of families with BRCA1 mutations had 1.6-fold (95% CI, 1.2-fold to 2.3-fold) higher risk of contralateral breast cancer than members of families with BRCA2 mutations Members of families with BRCA1 mutations had 1.6-fold higher ... significantly higher risk of contralateral breast cancer in patients with BRCA1 mutation trend was observed in patients with BRCA2 mutation After 25 years, 62.9% (95% CI, 50.4% to 75.4%) of patients with BRCA1 mutation who were younger than 40 years of age at first breast cancer [more...]

Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers
Breast Cancer Research, 10/26/2009

Neuhausen SL et al. – This is the first study to investigate the role of genetic variation in IGF signaling and breast cancer risk in women carrying deleterious mutations in BRCA1 and BRCA2. We identified significant associations in variants in IGF1R and IRS1 in BRCA1 ... carriers and in IGFBP2 in BRCA2 carriers. Methods Cohort of 1,665 adult, female mutation carriers, including 1,122 BRCA1 carriers (433 cases) and 543 BRCA2 carriers (238 cases) Genotyped for single nucleotide polymorphisms (SNPs) in IGF1, IGF1 receptor (IGF1R), IGF1 ... of breast cancer for BRCA1 and BRCA2 carriers separately For linkage disequilibrium (LD) blocks with multiple SNPs, an additive genetic model assumed and for single SNP analyses no additivity assumptions made Results Among BRCA1 carriers, significant associations ... and LD blocks in IGF1R Among BRCA2 carriers, an LD block in IGFBP2 was found to be associated with time to breast cancer diagnosis No significant LD block associations found for other investigated genes among BRCA1 and BRCA2 carriers [more...]

Genomic alterations in histopathologically normal breast tissue from BRCA1 mutation carriers may be caused by BRCA1 haploinsufficiency
Genes, Chromosomes and Cancer, 10/22/2009

Rennstam K et al. – The results imply that genomic instability instigated by BRCA1 haploinsufficiency may be required for breast cancer initiation in BRCA1 mutation carriers. Finding molecular markers ... progression, for the potential use in early disease detection, may be of great clinical importance for the improved management of at–risk women. [more...]

Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers
BMC Cancer, 10/14/2009

Miolo GM et al. – These findings suggest that the IHC analysis by Allred's method improves our ability to select patients for BRCA1 testing. Methods BRCA1 molecular analysis, including Multiplex Ligation-dependent Probe Amplification (MLPA), considered as gold standard assay Results Total of 10 BRCA1 pathogenetic mutations found With exclusion of tumours ... or strong HER2 positivity (3+) Identified 22 patients, 10 of whom resulted as BRCA1 mutation carriers Sensitivity, specificity, positive and negative predictive values 100%, 83.3%, 45.4% and 100% respectively [more...]

The Leu33Pro polymorphism in the ITGB3 gene does not modify BRCA1/2-associated breast or ovarian cancer risks: results from a multicenter study among 15,542 BRCA1 and BRCA2 mutation carriers
Breast Cancer Research and Treatment, 11/04/2009

Jakubowska A et al. – The polymorphism was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers. The ... does not modify breast or ovarian cancer risk in BRCA1 or BRCA2 mutation carriers. [more...]

Functional variant of KLOTHO: a breast cancer risk modifier among BRCA1 mutation carriers of Ashkenazi origin
Oncogene, 10/14/2009

Wolf I et al. – Studies in breast cancer cells showed reduced growth inhibitory activity and reduced secretion of klotho F352V compared with wild-type klotho. These data suggest KL-VS as a breast and ovarian cancer risk modifier among BRCA1 ... BRCA1 mutation carriers. Methods Examined the association between KL-VS and cancer risk among 1115 Ashkenazi Jewish women 236 non-carriers, 631 BRCA1 (185delAG, 5382insC) carriers and 248 BRCA2 (6174delT) carriers Results Among BRCA1 carriers [more...]

BRCA1 transcriptionally regulates genes associated with the basal-like phenotype in breast cancer
Breast Cancer Research and Treatment, 11/06/2009

Gorski JJ et al. – The data provided suggest a model whereby BRCA1 and c–Myc form a repressor complex on the promoters of specific basal genes and represent a potential mechanism to ... explain the observed overexpression of key basal markers in BRCA1–deficient tumours. [more...]

BRCA1/2 testing in patients with newly diagnosed breast cancer
Community Oncology, 10/09/2009

Nusbaum R et al. – Initial research demonstrates the utility and feasibility of genetic counseling and testing before definitive surgery in women with newly diagnosed breast cancer. On the basis of the elevated risk of ... contralateral breast cancer in BRCA1/2 carriers, women with an inherited susceptibility may choose bilateral mastectomy at the time of initial surgical treatment. Thus, timely provision of genetic counseling and testing, which often involve facilitation of a referral to a genetic counselor or ... situation. [more...]

Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes
Breast Cancer Research and Treatment, 11/13/2009

del Valle J et al. – In BRCA1, six rearrangements were characterized: deletion of E22, duplication of E9–E24, deletion of E16–E23, deletion of E1–E13, deletion of E1–E2 and ... is the most comprehensive study of the nature and underlying molecular causes of these mutational events in the BRCA1/2 genes. [more...]