Clinicopathologic characteristics and BRCA-1/BRCA-2 mutations of Turkish patients with breast cancer
1Department of Medical Oncology, School of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Background:
BRCA-1 and BRCA-2 are two major susceptibility genes for breast cancer. Between 30-70 % of hereditary breast cancers are thought to be attributed to mutations in BRCA-1 or BRCA-2. The aim of our study was to investigate the clinicopathologic characteristics and BRCA mutations of patients with breast cancer living in the northeast region of Turkey.
Materials And Methods:
Two hundred eleven patients diagnosed with breast cancer were enrolled in the present study. All patients provided their demographic, environmental, family, and reproductive traits. Patients were screened for mutations of BRCA-1 and BRCA-2 with multiple ligation-dependent probe amplification (MLPA) test.
Results:
In the present study, the mean age of breast cancer patients was 50.7 years and the mean age at first delivery was 21.8 years. Large genomic rearrangements in BRCA-1 were detected in 4 (1.9 %) patients; 2 of them had exon 21 deletions and the remaining 2 patients had exon 18 and 19 deletions. No BRCA-2 rearrangements were detected in the study population.
Conclusions:
Different mutation analyses results were detected in different countries by using different testing techniques. The characteristics and sensitivities of patients as determined by all methods were different in these studies. Due to these factors, BRCA mutation rates were different. This is the first study where MLPA was used to screen BRCA-1 and BRCA-2 mutations in Turkish population (Tab. 1, Ref. 10).
More Related Videos
13:04In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose
Published on: October 14, 2015
08:53Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1
Published on: February 17, 2011
Related Concept Videos
02:07Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
01:33Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
02:59Cancer Prevention
Some...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...