Familial gastric cancer: detection of a hereditary cause helps to understand its etiology [0.03%]
家族性胃癌：发现遗传病因有助于了解其发病机制
Ingrid P Vogelaar,Rachel S van der Post,Tanya M Bisseling et al.
Ingrid P Vogelaar et al.
Worldwide, gastric cancer is one of the most common forms of cancer, with a high morbidity and mortality. Several environmental factors predispose to the development of gastric cancer, such as Helicobacter pylori infection, diet and smoking...
DNA and RNA analyses in detection of genetic predisposition to cancer [0.03%]
用于检测癌症遗传易感性的DNA和RNA分析技术
Grzegorz Kurzawski,Dagmara Dymerska,Pablo Serrano-Fernández et al.
Grzegorz Kurzawski et al.
During the past decade many new molecular methods for DNA and RNA analysis have emerged. The most popular thus far have been SSCP, HET, CMC, DGGE, RFLP or ASA, which have now been replaced by methods that are more cost effective and less ti...
Chemokine Ligand 5 (CCL5) and chemokine receptor (CCR5) genetic variants and prostate cancer risk among men of African Descent: a case-control study [0.03%]
非洲后裔男性中趋化因子配体5(CCL5)和趋化因子受体(CCR5)基因多态性与前列腺癌发病风险：一项病例对照研究
Lacreis R Kidd,Dominique Z Jones,Erica N Rogers et al.
Lacreis R Kidd et al.
Background: Chemokine and chemokine receptors play an essential role in tumorigenesis. Although chemokine-associated single nucleotide polymorphisms (SNPs) are associated with various cancers, their impact on prostate can...
Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome [0.03%]
斑瓷白皮损在基底细胞痣综合征中的诊断和发病学作用
Giovanni Ponti,Aldo Tomasi,Lorenza Pastorino et al.
Giovanni Ponti et al.
Café au lait spots (CALS) are common dermatologic findings that can at the same time arise in a variety of pathologic conditions such as Neurofibromatosis type 1 (NF1), together with numerous hereditary syndromes for which they represent e...
Pawel Borun,Sowinski Jerzy,Katarzyna Ziemnicka et al.
Pawel Borun et al.
The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer'...
Birt-Hogg-Dube syndrome presenting as multiple oncocytic parotid tumors [0.03%]
以多个腮腺细胞瘤为表现的伯特-霍格-杜布综合征病例报告
Noralane M Lindor,Jan Kasperbauer,Jean E Lewis et al.
Noralane M Lindor et al.
Mutations in FLCN cause Birt-Hogg-Dubé syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. W...
Manuel Eduardo Ribeiro da Silva,Manuel João Queiroz de Fariados Santos Carvalho,António Pedro Cacho Rodrigues et al.
Manuel Eduardo Ribeiro da Silva et al.
Paragangliomas are rare tumours with a prevalence of 1/10000 to 1/30000. Tumors arising from the paraganglia are characteristically of low malignant potential. Vertebral metastases are exceedingly rare, and only isolated case reports have d...
Maimoona Sabir,Ruqia Mehmood Baig,Ishrat Mahjabeen et al.
Maimoona Sabir et al.
Background: Cyclin-dependent kinase 4 (CDK4) together with its regulatory subunit cyclin D1, governs cell cycle progression through G1 phase. Cyclin-dependent kinase inhibitors, including p16INK4A in turn regulate CDK4. I...
Hans-Juergen Schulten,Sherine Salama,Zuhoor Al-Mansouri et al.
Hans-Juergen Schulten et al.
Background: The molecular etiology of thyroid carcinoma (TC) and other thyroid diseases which may present malignant precursor lesions is not fully explored yet. The purpose of this study was to estimate frequency, type an...
Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays [0.03%]
利用生化和细胞实验确定错配修复基因意义未明变异的功能效应
Christopher D Heinen,Lene Juel Rasmussen
Christopher D Heinen
With the discovery that the hereditary cancer susceptibility disease Lynch syndrome (LS) is caused by deleterious germline mutations in the DNA mismatch repair (MMR) genes nearly 20 years ago, genetic testing can now be used to diagnose thi...