Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Anikó Bozsik"'
Autor:
József Ágoston Balog, Klaudia Horti-Oravecz, Dorottya Kövesdi, Anikó Bozsik, Janos Papp, Henriett Butz, Attila Patócs, Gábor János Szebeni, Vince Kornél Grolmusz
Publikováno v:
iScience, Vol 27, Iss 6, Pp 109882- (2024)
Summary: Germline pathogenic variants in BRCA1 and BRCA2 (gpath(BRCA1/2)) represent genetic susceptibility for hereditary breast and ovarian cancer syndrome. Tumor-immune interactions are key contributors to breast cancer pathogenesis. Although earli
Externí odkaz:
https://doaj.org/article/c08dc478435c457c8941859c873d1b9a
Autor:
Sára Pálla, Judit Tőke, Anikó Bozsik, Henriett Butz, János Papp, István Likó, Enikő Kuroli, András Bánvölgyi, Mátyás Hamar, Jerome Bertherat, Márta Medvecz, Attila Patócs
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testi
Externí odkaz:
https://doaj.org/article/31ca46c6b9444be99130d24177c8af51
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract TP53 variant interpretation is still challenging, especially in patients with attenuated Li–Fraumeni syndrome (LFS). We investigated the prevalence of pathogenic/likely pathogenic (P/LP) variants and LFS disease in the Hungarian population
Externí odkaz:
https://doaj.org/article/0714ce041823455f9c1ba4a58dc89331
Autor:
Sára Pálla, Judit Tőke, Anikó Bozsik, Henriett Butz, János Papp, István Likó, Enikő Kuroli, András Bánvölgyi, Mátyás Hamar, Jerome Bertherat, Márta Medvecz, Attila Patócs
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/508602b211924a00a6c096033eb0fd58
Autor:
Vince Kornél Grolmusz, Petra Nagy, István Likó, Henriett Butz, Tímea Pócza, Anikó Bozsik, János Papp, Edit Oláh, Attila Patócs
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is a common genetic predisposition to cancer due to germline mutations in genes affecting DNA mismatch repair. Due to mismatch repair deficiency, developing
Externí odkaz:
https://doaj.org/article/eeb7b1b4eb274540b976ba88a6389a57
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Since the introduction of next-generation sequencing, the frequency of germline pathogenic TP53 variants and the number of cases with unusual clinical presentations have been increasing. This has led to the expansion of the classical Li–Fraumeni sy
Externí odkaz:
https://doaj.org/article/5f4d91947b754b4c97dac51232637781
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
In addition to single nucleotide variations and small-scale indels, structural variations (SVs) also contribute to the genetic diversity of the genome. SVs, such as deletions, duplications, amplifications, or inversions may also affect coding regions
Externí odkaz:
https://doaj.org/article/a808068ed09d46c58201108c66dd6048
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
The ongoing COVID-19 pandemic caused by the novel coronavirus, SARS-CoV-2 has affected all aspects of human society with a special focus on healthcare. Although older patients with preexisting chronic illnesses are more prone to develop severe compli
Externí odkaz:
https://doaj.org/article/a32d3b57cf2646d49b5800630566fabe
Publikováno v:
European Journal of Human Genetics.
Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome that occurs as a result of germline mutations in the APC gene. Despite a clear clinical diagnosis of FAP, a certain proportion of the APC variants are not readily detectable through
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc2eb97207f95b526628b46df600b7f1
https://doi.org/10.1038/s41431-023-01322-y
https://doi.org/10.1038/s41431-023-01322-y
Publikováno v:
Cancer research and treatment. 54(4)
Purpose While BRCA1/2 genes are commonly investigated, variants of unknown significance (VUS) and variants with potential splice effect are still being detected and they represent a substantial challenge in genetic counseling and therapy.Materials an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4a84e763edaf3686e09703a3593526b
https://pubmed.ncbi.nlm.nih.gov/35167739
https://pubmed.ncbi.nlm.nih.gov/35167739