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Article
Open AccessTargeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan
About 5–10% of all ovarian cancer cases show familial clustering, and some 15–25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have...
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Article
Open AccessGene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS)
Both obstructive sleep apnea (OSA) and (at least a fraction of) sudden infant death syndrome (SIDS) are associated with impaired respiration. For OSA, an association with several gene variants was identified. ...
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Article
The search for new candidate genes involved in ovarian cancer pathogenesis by exome sequencing
Ovarian cancer is one of the most insidious of tumors among gynecological cancers in the world. BRCA1 and BRCA2 mutations are associated with high risk of ovarian cancer; however, they are causative only in a fra...
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Article
Open AccessFGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium
Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF...
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Article
Open AccessEvaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
Somatic mutations in phosphoinositide-3-kinase catalytic subunit alpha (PIK3CA) are frequent in breast tumours and have been associated with oestrogen receptor (ER) expression, human epidermal growth factor recep...
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Article
Open AccessATM polymorphisms as risk factors for prostate cancer development
The risk of prostate cancer is known to be elevated in carriers of germline mutations in BRCA2, and possibly also in carriers of BRCA1 and CHEK2 mutations. These genes are components of the ATM-dependent DNA dama...
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Article
DEGRO 2004
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Article
Open AccessMutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer
Mutations of the BRCA1 or BRCA2 genes have been shown to strongly predispose towards the development of contralateral breast cancer in patients from large multi-case families. In order to test the hypothesis that...
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Mutationsanalytik der Mukoviszidose
Die Mukoviszidose (Cystische Fibrose, CF), eine der weltweit häufigsten autosomalrezessiv vererbbaren Erkrankungen, ist durch Mutationen im cystic fibrosis transmembrane conductance regulator (CFTR) Gen bedingt. ...
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Article
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria
Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine, lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the ...
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Article
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdel...
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Article
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive azoospermia and accounts for 1%–2% of male infertility. A high incidence of mutations of the cystic fibrosis transmembrane con...
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Article
Geographic distribution and origin of CFTR mutations in Germany
The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromos...
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Article
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America i...
