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1. Cardiovascular biology: Mutation causes heart disease 2017

   https://ncsu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwjV3fb9MwED6xTUi8MDYQlI0qoIkfD6GJ88MOmial1qqNqVC1FUN9iRI76Xhpt6X9_7lzXG2BPezlovgukRXbly_O588AR0mQCE2cpyL2uIsJj7uJEJGrvDL3y4RVuV-1J3OaD0VaC2Pbd5MWTa7WS0XT5D0f0TeneY9oC3bwtRRSL-6fyjtKB8LrZmEsyX73aIfrQKj_k-0_ENK8Sga7MNtUwjBIaN-C-1T6npEvNJoVG6nGx1f4BTy3ANNJmx6xB0_KxT48NURPVe_Dnh3MtfPZKk5_eQlStlipzvHViRVnOu5dnXyj8-G6-WdPBY7K1zXegTbDXjn2F88rmA5Op_LMtbsruHMWYWZh3NOxkRVFiKIrv-B-oZIS4Z-qPJZUSleFCkNeRVrhIC4wN2BJ7gVBpZKCBW_A4YGKY86DRHERFprnsQ51gSBCaXSUogNH9OQz0plYEJFljtWrs3R6KX9kaciJYyV42IEPD4WdT8atoE82qFqubnOV2-UDy0VJClatyINWpLr-c5Pd835seefNs37oNoetQBx2quV-v2nzjFzEVVuUy3Wd3bV6B143_Sy7bqRDMoZ4SrCQv33E1QfwjBGG8HyXxYewvbpdl-9gm_pjF7b4-BfZ3xytkH4XdtL-dzmg41SOJl0zMvCsfzFJx3g8k-eDGZZe9L-iHbKhsT-NHZHljaUrR9HsL0BBFI0

   Nature (London), Vol. 541, Issue 7638, p. 438.

   Journal Article  |  Full Text Online

2. BRAF(V600E) mutation and the biology of papillary thyroid cancer 2008

   https://ncsu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV07T8MwELYQA2LgjaC8lKEDD7l5uElsqapUqlQsdKiANfIraoVoq9AO_fecnQTSDkiw2o6l5Lvcne3P3yHUZIRRZThPIvJiDA4vxozSEEtPc1-zION-tr6ZgyoZCJ3Llp6qGfwxxbYyLj_ppz3VN_Rt8MWuH7q-CyuNFhdmQ0AuwAdDYLX3t5LhtyeOqK16aorQYYh1tLyfF8Wxm4z6lnQJntvohppyW4Gh1e2JSSEiaZk6G9GqUhCup6BBGYoGB-i9utBjGSim7kGdiu9a-UOreVGTevzvCx-i_TJjdXqFiR2hLT09RjvP5Zn8CRo-jnqD2zdIaZI7pzPufiyL0_2OO-46fKocSDFNeyn3ZJtnmTPnc1PwKF9B_yqfTZQjjQHmp-h1kLz0n3BZpQELwqIFDlSkVZaBn5DcI5rJANIo4QPi5vqeRyURMpBMQF7pZ2GYaQiMnAvCAR1OeEjOkRMTGQEqhMmYtoWKeaTaSkA2IhV0aNpA9-u4pPNCiyM1axh4MgU8Uy9ODZ4N1Kww-33YQ4VnujF5bXRlJA10VkD-M2VpMxd_mucS7RaME8Niu0Lbi3ypr9G2MZIba7xfuczybg

   Frasca, F; Nucera, C; Pellegriti, G; Gangemi, P; Attard, M; Stella, M...

   Endocrine Related Cancer, Vol. 15, Issue 1, pp. 191 - 205.

   BRAF(V600E) mutation is the most frequent genetic alteration in papillary thyroid carcinomas (PTCs) that are 80–90% of all thyroid cancers. We evaluated the relationship between BRAF(V600E) and tum... Read more

   BRAF(V600E) mutation is the most frequent genetic alteration in papillary thyroid carcinomas (PTCs) that are 80–90% of all thyroid cancers. We evaluated the relationship between BRAF(V600E) and tumor, host, and environmental factors in PTCs from all geographical areas of Sicily. By PCR, BRAF(V600E) was investigated in a series of 323 PTCs diagnosed in 2002–2005. The correlation between clinicopathological tumor, host, and environmental characteristics and the presence of BRAF(V600E) were evaluated by both univariate and multivariate analyses. BRAF(V600E) was found in 38.6% PTCs, with a 52% frequency in the classical PTCs and 26.4% in the tall cell variant. Univariate analysis indicated that BRAF(V600E) was associated with greater tumor size (P=0.0048), extra-thyroid invasion (P<0.0001), and cervical lymph nodal metastases (P=0.0001). Multivariate logistic regression analysis confirmed that BRAF(V600E) was an independent predictor of extra-thyroid invasion (P=0.0001) and cervical lymph nodal metastasis (P=0.0005). The association between BRAF(V600E) and extra-thyroid invasion was also found in micro-PTCs (P=0.006). In 60 classical PTCs, BRAF(V600E) was positively correlated with matrix metalloproteinase-9 expression (P=0.0047), suggesting a possible mechanism for BRAF(V600E) effect on PTC invasiveness. No association was found between BRAF(V600E) and patient age, gender, or iodine intake. In contrast, a strong association was found with residency in Eastern Sicily (P<0.0001 compared with Western Sicily). These results indicate that BRAF(V600E) mutation is a marker of aggressive disease in both micro- and macro-PTCs. Moreover, for the first time, a possible link between BRAF(V600E) mutation and environmental carcinogens is suggested. Read less

   Journal Article  |  Full Text Online

3. Opening Pandora's Box — the new biology of driver mutations and clonal evolution in cancer as... 2012

   https://ncsu.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1daxQxFL1IRfDF-oVu1XIfBEEcu9mZTSZQCq26VAQRVOhbyCSZVml3ZWdX2rf-huIv9Jd4bzJZVKqIjzPJJJnkJjk3OTkBeKxLXXvmPDVyqAoa8FSh63pcuGGwIuhRa0X762IOPMtnYX7fwo9UrEPPgpa8aieep5O95VjxPQ2Tl3urYZc8GZmE9XRRleogb2FelsKfJqFLQWbZTzaTdTjIxYwcE77Z4Gey_VYUOIyqFlnM8V9_6Sbc6AEo7iaLuQVXwvQ2XEtXUp7dgQtmmFCW-M5OPZnHkw73Zqffz78RUESC4Lh9tNMLN21vHe3grEU_Z24HB5ws08Z-F4MoAXTHjPQxfO0tHD9N0bGhzdF2yPJRNEF5bM4o7dMFHkYR7Bix53hTUe7Cx8mrDy_2i_7ehsKRe7goWMSNUM_Yi0Bowrai1a1SpbRN3dJbRT4xwybtZENu8Dg02tYyjFxLA04zdKK8D6hKJyV9pJ2qq8YrK33lG8InzlNAqAfwNLeg-ZJ0OUwmrH02VLuGa9cMhaHaHYDKbWzygVMaIkPX99fOCNNRZPOerYeNR4wieC4HUK2-7CFJghqGmvRvGWK2JEPdlfdg7DTMlp0hNCqEriRFuZcsbFV8AmrsXsqN_8vzAVznp8Qofwhri_kyPII1Ns5NuLr7-s3-283YY34AwFERkQ

   Ma, Qianli C; Ennis, Catherine A; Aparicio, Samuel

   Current Opinion In Genetics & Development, Vol. 22, Issue 1, pp. 3 - 9.

   Recent advances in next generation sequencing have greatly enhanced the scope and speed of genomic cancer research. Apart from merely listing identified mutations from cancer genomes sequencing, th... Read more

   Recent advances in next generation sequencing have greatly enhanced the scope and speed of genomic cancer research. Apart from merely listing identified mutations from cancer genomes sequencing, this review will summarize some insights specifically focusing on the biology of allele generating cancer driver mutations and clonal patterns during tumor evolution. Studies using massively parallel sequencing of primary tumor samples and cancer cell lines have identified neomorphic alleles and other recurrent mutations in proteins involved in chromatin modification and in the regulation of transcription and translation. Further studies with deep sequencing of matched primary and metastatic tumors have also started to characterize distinct patterns of tumor clonal evolution. The development of single cell sequencing is expected to help further elucidate tumor clonality and aid the translation of these discoveries into diagnostic and therapeutic applications. Read less

   Journal Article  |  Full Text Online

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