BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia

<p>Abstract</p> <p>Background</p> <p>The aim of this study was to identify BRCA1 and BRCA2 mutations in the Estonian population. We analyzed genetic data and questionnaire from 64 early-onset (< 45 y) breast cancer patients, 47 familial cases (patients with breast or ovarian cancer and a case of these cancers in the family), and 33 predictive cases (patients without breast or ovarian cancer, with a family history of such diseases) from Estonia for mutations in the BRCA1 gene. A sub-set of familial cases and predictive cases were also analyzed for mutations in the BRCA2 gene.</p> <p>Methods</p> <p>For mutation detection, we used the Polymerase Chain Reaction-Single Stranded Conformation Polymorphism Heteroduplex Analysis (PCR-SSCP-HD), followed by direct DNA sequencing.</p> <p>Results</p> <p>We identified three clinically important mutations in the BRCA1 gene, including seven occurrences of the c.5382insC mutation, three of c.4154delA, and one instance of c.3881_3882delGA. We also detected six polymorphisms: c.2430T>C, c.3232A>G, c.4158A>G, c.4427T>C, c.4956A>G, and c.5002T>C. Four sequence alterations were detected in introns: c.560+64delT, c.560+ [36-38delCTT, 52-63del12], c.666-58delT, and c.5396+60insGTATTCCACTCC. In the BRCA2 gene, two clinically important mutations were found: c.9610C>T and c.6631delTTAAATG. Additionally, two alterations (c.7049G>T and c.7069+80delTTAG) with unknown clinical significance were detected.</p> <p>Conclusions</p> <p>In our dataset, the overall frequency of clinically important BRCA1 mutations in early-onset patients, familial cases, and predictive testing was 7.6% (144 cases, 11 mutation carriers). Pathogenic mutations were identified in 4 of the 64 early-onset breast cancer cases (6.3%). In familial cases, clinically important mutations in the BRCA1 gene were found in 6 of the 47 individuals analyzed (12.8%). In predictive cases, 1 clinically important mutation was detected in 33 individuals studied (3%). The occurrence of clinically important mutations in BRCA2 in familial cases of breast cancer was 2 of the 16 individuals analyzed (12.5%).</p

Prevalence of the most frequent BRCA1 mutations in Polish population

The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 1845 consecutive female breast cancer cases. The most frequent BRCA1 mutation in the general population was 5382insC found in 29 out of 16,849 samples (0.17%). 300T >G and 3819del5 mutations were found in respectively 11 of 13,462 (0.08%) and four of 3923 (0.1%) samples. The population prevalence for combined Polish founder 5382insC and 300T >G mutations was 0.25% (1/400). The frequencies of 5382insC and 300T >G carriers among consecutive breast cancer cases were, respectively, 1.9% (35/1845) and 1.2% (18/1486). Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. Our results, based on large population studies, show high frequencies of founder 5382insC and 300T >G BRCA1 mutations in Polish general population. Carriage of one of these mutations is connected with a very high relative risk of breast cancer

Review of CVD synthesis of graphene

This article presents an overview of the research highlights in graphene synthesis by CVD. The growth mechanisms over transition metals and alloys (with emphasis on Cu and Cu alloys) are discussed, including new developments and experiments in transfer-free graphene growth on dielectric materials. The focus is on the role of the various synthesis parameters, including the thermodynamic aspects of the chemical process, and the physical, chemical, and morphological properties of the substrate catalyst. The relationships between these parameters, and the properties of the as-grown graphene are discussed. Some important relationships are reviewed and used to influence the fundamental parameters of, and methods for, the synthesis of high quality graphene. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.Funded by: Spanish MICINN Project. Grant Number: CSD2008-00023 and European Union Seventh Framework Programme under grant agreement n°604391 Graphene Flagship.Peer Reviewe

A review of cnidarians and ctenophores feeding on competitors in the plankton

Predation among pelagic cnidarians and ctenophores is reviewed. The diets of semaeostome scyphomedusae and hydromedusae commonly include other gelatinous zooplanktivores. However, few species of siphonophores and ctenophores are known to consume other gelatinous species. Most of these species can be said to exhibit intraguild predation, since they consume species that potentially compete with them for food. In addition, some hydromedusan and ctenophore species may consume other gelatinous zooplanktivores exclusively. Characteristics of cnidarians and ctenophores as predators and as prey of other gelatinous species are discussed

Kinetics of Graphene and 2D Materials Growth

During the last 10 years, remarkable achievements on the chemical vapor deposition (CVD) growth of 2D materials have been made, but the understanding of the underlying mechanisms is still relatively limited. Here, the current progress on the understanding of the growth kinetics of 2D materials, especially for their CVD synthesis, is reviewed. In order to present a complete picture of 2D materials&apos; growth kinetics, the following factors are discussed: i) two types of growth modes, namely attachment-limited growth and diffusion-limited growth; ii) the etching of 2D materials, which offers an additional degree of freedom for growth control; iii) a number of experimental factors in graphene CVD synthesis, such as structure of the substrate, pressure of hydrogen or oxygen, temperature, etc., which are found to have profound effects on the growth kinetics; iv) double-layer and few-layer 2D materials&apos; growth, which has distinct features different from the growth of single-layer 2D materials; and v) the growth of polycrystalline 2D materials by the coalescence of a few single crystalline domains. Finally, the current challenges and opportunities in future 2D materials&apos; synthesis are summarized