نتایج جستجو برای: brca1 و brca2
تعداد نتایج: 770130 فیلتر نتایج به سال:
We conducted a study to determine whether the risk of breast cancer associated with oral contraceptive (OC) use is higher in women with BRCA1/BRCA2 mutations than in other women by examining whether breast cancer patients with these mutations were more likely than breast cancer patients without mutations in BRCA1/BRCA2 to have used OCs. We tested for BRCA1 185delAG and 5382insC and BRCA2 6174de...
Breast cancer associated with BRCA1 and BRCA2 gene mutations differs from non-BRCA tumors in several respects. We determined whether there was any difference in CCND1 (11q13) and ZNF217 (20q13) gene amplification with respect to BRCA status. Of 40 breast cancer samples examined, 15 and 9 were from BRCA1 and BRCA2 mutation carriers, respectively, and 16 from patients without mutation. Fluorescen...
Hereditary breast cancer arising in carriers of mutations in the BRCA1 and BRCA2 genes differs from sporadic breast cancer and from non-BRCA1/2 familial breast carcinomas. Most BRCA1 carcinomas have the basal-like phenotype and are high-grade, highly proliferating, estrogen receptor-negative and HER2-negative breast carcinomas, characterized by the expression of basal markers such as basal kera...
Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic counseling. A multifactorial likelihood model for classification of unclassified variants in BRCA1 and BRCA2 has previously been developed, which uses data on co-occurrence of the unclassified variant with pathogenic mutations in the same gene, cosegregation of the un...
PURPOSE Germline mutations in the BRCA1 and BRCA2 genes confer increased risks for breast cancers. However, the clinical presentation of breast cancer among women who are carriers of the BRCA1 or BRCA2 (BRCA1/2 carriers) mutations is heterogenous. We aimed to identify the effects of the reproductive histories of women with the BRCA1/2 mutations on the clinical presentation of breast cancer. M...
A sample of 58 familial breast cancer patients from Venezuela were screened for germline mutations in the coding sequences and exon– intron boundaries of BRCA1 (MIM no. 113705) and BRCA2 (MIM no. 600185) genes by using conformation-sensitive gel electrophoresis. Ashkenazi Jewish founder mutations were not found in any of the samples. We identifi ed 6 (10.3%) and 4 (6.9%) patients carrying germl...
Familial susceptibility to breast cancer accounts for 25% of all breast cancer cases. In familial breast cancer, mutations in the BRCA1, BRCA2, CHEK2, TP53 and PTEN genes account for 5–10% of breast and ovarian cancer cases overall. The prevalence of BRCA1 or BRCA2 mutations varies considerably between ethnic groups and geographical areas. Populationspecific mutations have been described in Ice...
Identification of the BRCA1 and BRCA2 genes was a major advance in the understanding of the familial forms of breast cancer, as alterations of these genes result in a high predisposition to breast cancer. 2 To date, analysis of BRCA1 and BRCA2 coding sequences by mutation screening methods based on PCR sequencing protocols has allowed the identification of at least 900 different point or small ...
BACKGROUND Mutations in the BRCA1 and BRCA2 genes are found in most families with cases of both breast and ovarian cancer or with many cases of early-onset breast cancer. However, in an outbred population, the prevalence of BRCA1 and BRCA2 mutations in patients with breast cancer who were unselected for a family history of this disease has not been determined. METHODS Mutations in the BRCA1 a...
Germline mutations in BRCA1 and BRCA2 are the most penetrating genetic predispositions for breast and ovarian cancer, and their presence is largely ethnic-specific. Comprehensive information about the prevalence and spectrum of BRCA mutations has been collected in European and North American populations. However, similar information is lacking in other populations, including the mainland Chines...
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