Results 21 to 30 of about 3,222,626 (259)

Using antisense oligonucleotides for the physiological modulation of the alternative splicing of NF1 exon 23a during PC12 neuronal differentiation

Scientific Reports, 2021
Neurofibromatosis Type 1 (NF1) is a genetic condition affecting approximately 1:3500 persons worldwide. The NF1 gene codes for neurofibromin protein, a GTPase activating protein (GAP) and a negative regulator of RAS.
Josep Biayna, Helena Mazuelas, Bernat Gel, Ernest Terribas, Gabrijela Dumbovic, Inma Rosas, Juana Fernández-Rodriguez, Ignacio Blanco, Elisabeth Castellanos, Meritxell Carrió, Conxi Lazaro, Eduard Serra   +11 more
doaj   +1 more source

Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland

Hereditary Cancer in Clinical Practice, 2022
Background Mutations in BRCA1 and BRCA2 genes are well-established risk factors of breast and ovarian cancer. In our former study, we observed that approximately 6% of unselected ovarian cancer patients in the region of Podkarpacie (South-East Poland ...
Andrzej Jasiewicz, Helena Rudnicka, Wojciech Kluźniak, Wojciech Gronwald, Tomasz Kluz, Cezary Cybulski, Anna Jakubowska, Jan Lubiński, Jacek Gronwald   +8 more
doaj   +1 more source

Population screening for hereditary and familial cancer syndromes in Valka district of Latvia [PDF]

, 2010
Background The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk.
Arnis Āboliņš, Miklaševičs Edvīns, Vanags Andrejs, Gardovskis Jānis, Uldis Teibe, Teibe Uldis, Borošenko Viktors, Teibe, Uldis, Andrejs Vanags, Borošenko, Viktors, Andris Gardovskis, Štrumfa Ilze, Viktors Borošenko, Trofimovičs, Genadijs, Trofimovičs Genadijs, Genadijs Trofimovičs, Jānis Gardovskis, Štrumfa, Ilze, Gardovskis Andris, Vanags, Andrejs, Āboliņš Arnis, Edvīns Miklaševičs, Ilze Štrumfa, Aboliņš, Arnis, Gardovskis, Janis, Miklaševičs, Edvins, Gardovskis, Andris   +26 more
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Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer

BMC Cancer, 2018
Background We evaluated the incidence and spectrum of pathogenic and likely pathogenic variants of cancer susceptibility genes in BRCA1/2 mutation-negative Korean patients with a high risk for hereditary breast cancer using a comprehensive multigene ...
Ji Soo Park, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Hyung Seok Park   +7 more
doaj   +1 more source

Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [PDF]

, 2008
Each year 3500 people in Switzerland are diagnosed with colorectal cancer. Approximately 20 percent of all affected patients have two or more first or second-degree relatives with colorectal cancer (at-risk family members). About five percent of these
Necker, Judith
core   +1 more source

Germline HOXB13 mutation p.G84E do not confer an increased bladder or kidney cancer risk in polish population

Hereditary Cancer in Clinical Practice, 2022
Introduction The role of HOXB13 in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of HOXB13 p.G84E mutation in bladder and kidney cancer patients from Poland.
Elżbieta Złowocka-Perłowska, Aleksandra Tołoczko-Grabarek, Jan Lubiński   +2 more
doaj   +1 more source

BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update

Hereditary Cancer in Clinical Practice, 2021
Background Mutations in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Central-Eastern European counties, the founder mutations in the BRCA1 are responsible for a significant proportion of ovarian cancer cases ...
Alena Savanevich, Olgierd Ashuryk, Cezary Cybulski, Jan Lubiński, Jacek Gronwald   +4 more
doaj   +1 more source

Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]

, 2004
Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Gross, M., Lohse, P., Muders, M., Müller-Koch, Y., Daum, J., Mussack, T., Baretton, G., Kopp, R., Schiemann, Uwe, Holinski-Feder, E.   +9 more
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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients

npj Breast Cancer, 2022
The prevalence and clinical relevance of pathogenic germline variants in MMR genes have not been investigated in large series of breast cancers. In this study, we screened the germline variants in MMR genes in 8085 consecutive Chinese breast cancer ...
Li Hu, Jie Sun, Zhongwu Li, Ziwei Qu, Yan Liu, Qiting Wan, Jiaming Liu, Xinyun Ding, Fan Zang, Juan Zhang, Lu Yao, Ye Xu, Yin Wang, Yuntao Xie   +13 more
doaj   +1 more source

Serum Selenium Level and 10-Year Survival after Melanoma

Biomedicines, 2021
Melanoma is one of the most aggressive human malignancies. The determination of prognostic biomarkers is important for the early detection of recurrence and for the enrollment of the patients into different treatment regimens.
Emilia Rogoża-Janiszewska, Karolina Malińska, Piotr Baszuk, Wojciech Marciniak, Róża Derkacz, Marcin Lener, Anna Jakubowska, Cezary Cybulski, Tomasz Huzarski, Bartłomiej Masojć, Jacek Gronwald, Helena Rudnicka, Andrzej Kram, Magdalena Kiedrowicz, Magdalena Boer, Tadeusz Dębniak, Jan Lubiński   +16 more
doaj   +1 more source