8 research outputs found
Characteristics of bivalve mollusk <i>Serripes groenlandicus </i>in connection with its rational use
Greenland cockle Serripes groenlandicus is a burrow bivalve mollusk that forms dense aggregations on silty-sandy and muddy grounds at the depth 50-60 m. Its total stock in Peter the Great Bay is estimated as 8,700 t. The species is not used yet as a raw material for food industry that is a reason to investigate its safety, chemical composition and technological characteristics. There is noted that the aggregations of S. groenlandicus in Peter the Great Bay are formed mostly by large-sized individuals (> 80 %), so they have high commercial value. Its soft tissue (on average 25.8 % of total weigh) contents 11.9 % of protein, < 1.0 % of fat, and 5.4 % of carbohydrate, its energy value is 70 kcal, so it is a promising raw material for low-calorie dietary products. Technological losses in mass of the clam meat in the process of broth extraction under hydrothermal treatment are rather high: 45-47 %. To prevent the mass losses, the species is recommended to use as the raw material for canned products with its natural meat
Large family with both parents affected by distinct BRCA1 mutations: implications for genetic testing
Although the probability of both parents being affected by BRCA1 mutations is not negligible, such families have not been systematically described in the literature. Here we present a large breast-ovarian cancer family, where 3 sisters and 1 half-sister inherited maternal BRCA1 5382insC mutation while the remaining 2 sisters carried paternal BRCA1 1629delC allele. No BRCA1 homozygous mutations has been detected, that is consistent with the data on lethality of BRCA1 knockout mice. This report exemplifies that the identification of a single cancer-predisposing mutation within the index patient may not be sufficient in some circumstances. Ideally, all family members affected by breast or ovarian tumor disease have to be subjected to the DNA testing, and failure to detect the mutation in any of them calls for the search of the second cancer-associated allele
High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients
<p>Abstract</p> <p>Background</p> <p>A significant portion of ovarian cancer (OC) cases is caused by germ-line mutations in BRCA1 or BRCA2 genes. BRCA testing is cheap in populations with founder effect and therefore recommended for all patients with OC diagnosis. Recurrent mutations constitute the vast majority of BRCA defects in Russia, however their impact in OC morbidity has not been yet systematically studied. Furthermore, Russian population is characterized by a relatively high frequency of CHEK2 and NBS1 (NBN) heterozygotes, but it remains unclear whether these two genes contribute to the OC risk.</p> <p>Methods</p> <p>The study included 354 OC patients from 2 distinct, geographically remote regions (290 from North-Western Russia (St.-Petersburg) and 64 from the south of the country (Krasnodar)). DNA samples were tested by allele-specific PCR for the presence of 8 founder mutations (BRCA1 5382insC, BRCA1 4153delA, BRCA1 185delAG, BRCA1 300T>G, BRCA2 6174delT, CHEK2 1100delC, CHEK2 IVS2+1G>A, NBS1 657del5). In addition, literature data on the occurrence of BRCA1, BRCA2, CHEK2 and NBS1 mutations in non-selected ovarian cancer patients were reviewed.</p> <p>Results</p> <p>BRCA1 5382insC allele was detected in 28/290 (9.7%) OC cases from the North-West and 11/64 (17.2%) OC patients from the South of Russia. In addition, 4 BRCA1 185delAG, 2 BRCA1 4153delA, 1 BRCA2 6174delT, 2 CHEK2 1100delC and 1 NBS1 657del5 mutation were detected. 1 patient from Krasnodar was heterozygous for both BRCA1 5382insC and NBS1 657del5 variants.</p> <p>Conclusion</p> <p>Founder BRCA1 mutations, especially BRCA1 5382insC variant, are responsible for substantial share of OC morbidity in Russia, therefore DNA testing has to be considered for every OC patient of Russian origin. Taken together with literature data, this study does not support the contribution of CHEK2 in OC risk, while the role of NBS1 heterozygosity may require further clarification.</p
Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier
Acylalation Towards Nitrosogroup for Persubstituted Para-Ninrosophenols
При ацилировании 2,6-ди(алкоксикарбонил)-3,5-диметил-4-нитрозофенолята калия уксусным ангидридом и хлористым бензоилом получено 10 ранее неизвестных ацильных производных. Методами ЯМРAcylation reaction of potassium 2,6-di(alkoxycarbonyl)-3,5-dimethyl-4-nitrosophenolates was used to obtain 10 new compounds. It was shown usin
Acylalation Towards Nitrosogroup for Persubstituted Para-Ninrosophenols
При ацилировании 2,6-ди(алкоксикарбонил)-3,5-диметил-4-нитрозофенолята калия уксусным ангидридом и хлористым бензоилом получено 10 ранее неизвестных ацильных производных. Методами ЯМРAcylation reaction of potassium 2,6-di(alkoxycarbonyl)-3,5-dimethyl-4-nitrosophenolates was used to obtain 10 new compounds. It was shown usin