نتایج جستجو برای: familial breast cancer
تعداد نتایج: 1032090 فیلتر نتایج به سال:
BACKGROUND Variant ATM heterozygotes have an increased risk of developing cancer, cardiovascular diseases, and diabetes. Costs and time of sequencing and ATM variant complexity make large-scale, general population screenings not cost-effective yet. Recently, we developed a straightforward, rapid, and inexpensive test based on p53 mitotic centrosomal localization (p53-MCL) in peripheral blood mo...
Inherited predisposition to breast cancer is explained only in part by mutations in the BRCA1 and BRCA2 genes. Most families with an apparent familial clustering of breast cancer who are investigated through Australia's network of genetic services and familial cancer centres do not have mutations in either of these genes. More recently, additional breast cancer predisposition genes, such as PAL...
Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of developing breast cancer. To evaluate the contribution of PALB2 to familial breast cancer in the United States, we sequenced the coding sequences and flanking regulatory regions of the gene from constitutional genomic DNA of 1,144 familial breast cancer patients with wild-type sequences...
BACKGROUND The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either ...
The frame-shifting mutation 1100delC in the cell-cycle-checkpoint kinase 2 gene (CHEK2) has been reported to be associated with familial breast cancer in families in which mutations in BRCA1 and BRCA2 were excluded. To investigate the role of this variant as a candidate breast cancer susceptibility allele, we determined its prevalence in 237 breast cancer patients and 331 healthy relatives deri...
Aims: To compare psychosocial status between familial and non-familial breast cancer patients. Methods: This study used a descriptive analytic design with cross-sectional approach. Population sampling were taken at Baladika Husada Hospital Jember total technique of 90 respondents. The inclusion criteria in this native Regency diagnosed since the end 2021, histologically documented diagnosis can...
Evidence of the accuracy of self-reported mammography use among women with familial breast cancer risk is limited. This study examined the accuracy of self-reported screening mammography dates in a cohort of 1,114 female relatives of breast cancer cases, aged 26 to 73 from the Ontario site of the Breast Cancer Family Registry. Self-reported dates were compared to dates abstracted from imaging r...
Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number variants (CNVs) in breast cancer predisposition, high-resolution genome-wide s...
Germline mutations in the BRCA1 tumour suppressor gene on chromosome 17q21 are responsible for approximately half of the cases of hereditary breast cancer, including the majority of familial breast/ovarian cancers. To increase our knowledge of the spectrum of BRCA1 mutations, we have extended our analysis to include patients with varied family histories of cancer of the breast, ovary, and at mu...
Aim: Breast cancer is leading cause of cancer deaths in women, globally. Recently a study on a Chinese population suggested that there is a protective role of rs11655505 (c.-2265 C/T) in the BRCA1 promoter whereas, the same in Caucasian population showed no effect on breast cancer prevalence. This study was undertaken to find out, if there is any association between rs11655505 (c.-2265 C/T) and...
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