GERMLINE MUTATIONS
Germline mutations in Japanese familial pancreatic cancer patients
... of germline mutations in 21 genes associated with hereditary predispositions for pancreatic, breast and ovarian cancers by means of the next-generation sequencing using a custom multiple-gene ...available ...
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Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis
... by germline mutations of ...carry germline muta- tions of KIT (Table 1), indicating that the transforming ability of germline mutations of KIT in hematopoietic system is limited to mast ...
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Morphological predictors of BRCA1 germline mutations in young women with breast cancer
... About 5 – 10% of young women diagnosed with breast cancer carry germline mutations in BRCA1 (Newman et al, 1998; Southey et al, 1999; Malone et al, 2000; Ozcelik et al, 2003). Knowing a woman’s BRCA1 ...
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Prevalence of deleterious ATM germline mutations in gastric cancer patients
... two germline ATM mutations ...deleterious germline mutations of ATM in ...ATM mutations in gastric cancer patients is significantly higher than that in general population ...ATM ...
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Germline mutations in the alternative pathway of complement predispose to HELLP syndrome
... The major limitation of this study is the small sample sizes of the participant groups. Further, mul- tiple HELLP and partial HELLP participants tested negative for APC activation in the mHam assay. The most likely ...
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<p>Frequency of germline mutations in BRCA1 and BRCA2 in ovarian cancer patients and their effect on treatment outcome</p>
... In this study, 43.6% of the patients with a family history of cancer carried a BRCA mutation, while patients with no family history of cancer had an incidence rate of BRCA1/2 mutations of 7.7%; the difference was ...
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Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study
... small-range mutations and LGRs using highly sensitive methods (allowing the identification of recurrent BRCA1/2 mutations in the Pakistani population and the more accurate estimation of BRCA1/2 mutation ...
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STAT3 enhancing germline mutations contribute to tumor extrinsic immune evasion
... and are typically attributed to tumor-derived factors. Although the molecular basis for the crosstalk between tumor and immune cells is an area of active investigation, whether host-specific germline variants can ...
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Germline PTPRD Mutations in Ewing Sarcoma: Biologic and Clinical Implications
... V253I germline mutation located within the extracellular domain coding region; its functional consequences are unclear (Figure ...identified germline mutations T781A and R995C, which are single ...
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Vol 29, No 10 (2016)
... with germline mutations in DNA mismatch repair genes and microsatellite ...MSH2 mutations have a “classical” Lynch syndrome phenotype, with MSH2 having a higher association with extracolonic ...PMS2 ...
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Type 2B von Hippel-Lindau disease : molecular biology, tumor growth, and development
... by germline mutations in the VHL tumor suppressor gene, with Type 2B missense VHL mutations predisposing to renal cell carcinoma, hemangioblastoma, and ...2B mutations disrupt the interaction ...
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Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281 >isoleucine) in the extracellular domain of the thyrotropin receptor
... somatic mutations in the thyrotropin (TSH) re- ceptor have been identified as a cause of hyperfunctioning thyroid adenomas, and germline mutations have been found in familial nonautoimmune ...
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Association of a novel point mutation in MSH2 gene with familial multiple primary cancers
... Somatic mutations of TCGA Pan-Cancer analysis were down- loaded from Synapse ...MSH2 germline mutations associated with Lynch ...atic mutations in TCGA ...
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Novel germline CDK4 mutations in patients with head and neck cancer
... occurring mutations in non coding areas have been described to ...of germline mutations ...no germline mutation in codon 24 and 22 of CDK4 and these results support the findings of previous ...
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A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli
... As more germline mutations in the APC gene are identified, the molecular mechanisms of FAP become clearer. In this context, searching for an APC mutation, especially in patients with a family history of ...
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Fertility preservation in BRCA mutation carriers—efficacy and safety issues: a review
... of mutations in either of BRCA1 gene or BRCA2 gene have been ...in germline BRCA1/2 patho- genic mutation carriers generally follows a two-hit hypoth- esis, the first ‘hit’ owing to the inherited pathogenic ...
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Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients
... BRCA2 mutations were higher ...BRCA1 mutations (47.6%). Five novel mutations detected in this study were ...of mutations (72/82: ...of germline mutations ...of mutations ...
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Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
... novo germline missense MTOR variants in 6 individuals with a variable phenotype from focal, and less frequently generalized, epilepsies without brain malformations, to macrocephaly, with or without moderate ...
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Germline PTEN mutations are rare and highly penetrant
... 1997 germline mutations in PTEN were demonstrated to cause Cowden ...PTEN mutations were found in all six families meeting the clinical criteria for Cowden syndrome, in none of the two families ...
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Mutations in the von Hippel-Lindau Tumour Suppressor Gene in Central Nervous System Hemangioblastomas
... by germline mutations in the VHL tumour suppressor gene on chromosome 3p25-26 ...[2]. Germline mutations in the VHL gene are present in almost all VHL families [3, ...
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