نتایج جستجو برای: germline mutation
تعداد نتایج: 300136 فیلتر نتایج به سال:
Germline genetics, gender and hormonal-signaling pathways are all well described modifiers of cancer risk and progression. Although an improved understanding of how germline genetic variants interact with other cancer risk factors may allow better prevention and treatment of human cancer, measuring and quantifying these interactions is challenging. In other areas of research, Information Theory...
2014 Germline mutations of the BRCA1 and BRCA2 genes are associated with higher risk of breast, ovarian, prostate and pancreatic cancers. Initial conventional treatment is largely the same as for non-BRCA1/2-mutated cancers although there is increasing evidence in a variety of cancer types to suggest that BRCA1 or BRCA2 mutation or inactivation has a role in predicting response to DNA-damaging ...
Analysis of germline mutation rate at human minisatellites among children born in areas of the Mogilev district of Belarus heavily polluted after the Chernobyl accident has been extended, both by recruiting more families from the affected region and by using five additional minisatellite probes, including multi-locus probe 33.6 and four hypervariable single-locus probes. These additional data c...
Purpose: Hallmarks of germline BRCA1/2-associated ovarian carcinomas include chemosensitivity and improved survival. The therapeutic impact of somatic BRCA1/2 mutations and mutations in other homologous recombination DNA repair genes is uncertain. Experimental Design: Using targeted capture and massively parallel genomic sequencing, we assessed 390ovarian carcinomas for germline and somatic los...
Due to the high mutational somatic burden of Cutaneous Malignant Melanoma (CMM) a thorough profiling of the driver mutations and their interplay is necessary to explain the timing of tumorigenesis or for the identification of actionable genetic events. The aim of this study was to establish the mutation rate of some of the key drivers in melanoma tumorigenesis combining molecular analyses and/o...
It remains inconclusive whether germline BRCA mutation affects the response of neoadjuvant systemic therapy in breast cancer. Here, we present a retrospective analysis which estimated pathologic complete (pCR) rate cancer patients according to gBRCA1/2 status. We reviewed total 442 who underwent tests and received chemotherapy 2 institutions between 2001 2022. Chemotherapy was compared with or ...
BACKGROUND AND AIM Lynch syndrome, caused by germline mutations in mismatch repair genes, is a predisposing factor for colorectal cancer (CRC). This retrospective cohort study investigated the risk factors associated with the development of CRC in patients with MLH1 and MSH2 germline mutations. METHODS In total, 301 MLH1 and MSH2 germline mutation carriers were identified from the Amsterdam c...
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