Search results for "BRC"
showing 10 items of 87 documents
Brca2/Xrcc2 dependent HR, but not NHEJ, is required for protection against O6-methylguanine triggered apoptosis, DSBs and chromosomal aberrations by …
2008
Abstract O 6 -methylguanine (O 6 MeG) is a highly critical DNA adduct induced by methylating carcinogens and anticancer drugs such as temozolomide, streptozotocine, procarbazine and dacarbazine. Induction of cell death by O 6 MeG lesions requires mismatch repair (MMR) and cell proliferation and is thought to be dependent on the formation of DNA double-strand breaks (DSBs) or, according to an alternative hypothesis, direct signaling by the MMR complex. Given a role for DSBs in this process, either homologous recombination (HR) or non-homologous end joining (NHEJ) or both might protect against O 6 MeG. Here, we compared the response of cells mutated in HR and NHEJ proteins to temozolomide and…
Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor.
2021
Abstract Background There are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this disease to type I ovarian tumors (low-grade ovarian carcinomas). This study determined the prevalence and association of mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 with the risk of BOTs. Methods The study group consisted of 102 patients with histologically confirmed BOT and 1743 healthy controls. In addition, 167 cases with ovarian cancer G1 were analyzed. The analyses included genotyping of 21 founder and recurrent mutations localized in 5 genes (BRCA1, BRCA2, PALB2, RAD51C, and CHEK2). The risk for developing BOT and low-gra…
Dumbrcāļa (Rallus aquaticus) un mazā ormanīša (Zapornia parva) sastopamības noteicošie faktori Kaņiera ezerā
2022
Mazais ormanītis un dumbrcālis ir grūti konstatējamas sugas, jo apdzīvo mitrājus un ir aktīvas diennakts tumšākajā laikā, tāpēc šo sugu populāciju lielumi ir grūti novērtējami un to ekoloģija Latvijā ir maz pētīta. Darba ietvaros Kaņiera ezers tika apmeklēts laikā no maija līdz jūlijam. Dumbrcāļu un mazā ormanīša uzskaites tika veiktas no 36 nejauši atliktiem punktiem ezerā. Pētījuma laikā tika apmeklēti punkti līdz divām reizēm ligzdošanas sezonas laikā. Šī pētījuma mērķa sugas uzskaišu laikā tika provocētas ar savas sugas balss ierakstiem. Katra uzskaišu punkta apkārtnē 150 metru rādiusā tika aprakstīta veģetācijas un atklāta ūdens konfigurācija, veģetācijas kompaktums un platības īpatsva…
RISK PERCEPTION AND PSYCHOLOGICAL DISTRESS IN THE GENETIC COUNSELLING FOR HEREDITARY BREAST AND/OR OVARIAN CANCER
Background: Cancer genetic counselling allows the identification of a genetic component that increases the risk of developing a tumor. The psychological reactions are influenced by both the content of the information received, from both the subjetive perception of their own risk of becoming ill or being pruner of genetic mutation. Materials and Methods: This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between the Cancer Risk Perception and the Genetic Risk during genetic counselling before testing, considering the influence of psychological variables, in particular distress, anxiety and …
Identification and Characterization of BRCA1 and BRCA2 Founder Mutations
2012
A large number of cancer predisposing BRCA1/BRCA2 mutations have been reported, with a wide variety among populations. In some restricted groups, specific germline mutations in these tumor suppressor genes have been found with high predominance, due to a founder effect. We focused our review on the Italian founder mutations. The first Italian BRCA1 founder mutation, 5083del19, was found in Calabria: the presence of common allele in all carriers of this mutation (also in families with Calabrian origin living in other parts of Italy) confirmed its founder effect. The same BRCA1 mutation was identified in the Sicilian population, but only the haplotype analysis can reveal the common ancestor o…
Melanoma nei BRCA mutation carriers
2016
Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Itali…
2022
Constitutional BRCA1/BRCA2 pathogenic or likely pathogenic variants (PVs) are associated with an increased risk for developing breast and ovarian cancers. Current evidence indicates that BRCA1/2 PVs are also associated with pancreatic cancer, and that BRCA2 PVs are associated with prostate cancer risk. The identification of carriers of constitutional PVs in the BRCA1/2 genes allows the implementation of individual and family prevention pathways, through validated screening programs and risk-reducing strategies. According to the relevant and increasing therapeutic predictive implications, the inclusion of BRCA testing in the routine management of patients with breast, ovarian, pancreatic and…
MOLECULAR ANALYSIS OF BRCA1/2 GENES AND MULTIGENE-PANEL TESTING IN SICILIAN TRIPLE NEGATIVE BREAST CANCER
Estudio de la densidad mamográfica como modificador de riesgo de cáncer de mama en mujeres con mutación BRCA1/2
2015
El cáncer de mama es el tumor más frecuente en la mujer y uno de los problemas de salud más importante por los índices de mortalidad y morbilidad asociados. Los factores de riesgo más frecuentes para desarrollar esta enfermedad son la historia familiar y la edad de la mujer. En un 5-10% de la población con cáncer de mama se detecta un tumor hereditario debido a una mutación heredada de los padres. Actualmente, la alta densidad mamográfica medida en las mamografías, se considera un factor de riesgo para desarrollar cáncer de mama en la población general, pero su efecto en las mujeres portadoras de mutación en los genes BRCA1 y BRCA2 no se conoce con claridad. El propósito de este estudio es …