When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer. People who have inherited mutations in BRCA1 and BRCA2 tend to develop breast and ovarian cancers at younger ages than people who do not have these mutations. Like women from the general population, those with harmful BRCA1 or BRCA2 mutations also have a high risk of developing a new primary cancer in the opposite contralateral breast in the years following a breast cancer diagnosis. Ovarian cancer: About 1. These include fallopian tube cancer 3 , 4 and peritoneal cancer 5.
Inherited Gene Mutations
How To Detect Breast Cancer | Breast Cancer Diagnosis
In a cancer cell the number of copies of a locus may vary due to amplification and deletion and these variations are denoted as copy number alterations CNAs. We focus on the disparity of CNAs in tumour samples, which were compared to those in blood in order to identify the directional loss of heterozygosity. We propose a numerical algorithm and apply it to data from the Illumina K-SNP array on samples from breast cancer patients. For each locus, we compared genotypes in blood and tumour for subset of samples being heterozygous in blood. The chi-squared and Cochran-Armitage trend tests were used to examine whether there is an association between high levels of disparity in single nucleotide polymorphisms SNPs and molecular, clinical and tumour-related parameters. To identify pathways and network functions over-represented within the resulting gene sets, we used Ingenuity Pathway Analysis IPA. The most significantly associated network functions within the genes represented in the loci of disparity were identified, including lipid metabolism, small-molecule biochemistry, and nervous system development and function.
Allele-specific disparity in breast cancer
Breast cancer is the most common type of cancer among women in the United States. Early detection is key in the treatment of breast cancer. There are steps you can take to detect breast cancer early when it is most treatable.
Though CHEK2 has been identified as an intermediate breast cancer susceptibility gene, only a small proportion of high-risk families have been explained by genetic variants located in its coding region. Alteration in gene expression regulation provides a potential mechanism for generating disease susceptibility. The detection of differential allelic expression DAE represents a sensitive assay to direct the search for a functional sequence variant within the transcriptional regulatory elements of a candidate gene. We implemented an assay based on high-resolution melting HRM curve analysis and developed an analysis tool for DAE assessment.