High frequency of BRAF mutations in nevi
To evaluate the timing of mutations in BRAF (v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on microdissected melanoma and nevi samples. We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma met...
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| Veröffentlicht in: | Nature genetics 2003-01, Vol.33 (1), p.19-20 |
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| creator | Pollock, Pamela M. Harper, Ursula L. Hansen, Katherine S. Yudt, Laura M. Stark, Mitchell Robbins, Christiane M. Moses, Tracy Y. Hostetter, Galen Wagner, Urs Kakareka, John Salem, Ghadi Pohida, Tom Heenan, Peter Duray, Paul Kallioniemi, Olli Hayward, Nicholas K. Trent, Jeffrey M. Meltzer, Paul S. |
| description | To evaluate the timing of mutations in
BRAF
(v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on microdissected melanoma and nevi samples. We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. These data suggest that mutational activation of the RAS/RAF/MAPK pathway in nevi is a critical step in the initiation of melanocytic neoplasia but alone is insufficient for melanoma tumorigenesis. |
| doi_str_mv | 10.1038/ng1054 |
| format | Article |
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BRAF
(v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on microdissected melanoma and nevi samples. We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. These data suggest that mutational activation of the RAS/RAF/MAPK pathway in nevi is a critical step in the initiation of melanocytic neoplasia but alone is insufficient for melanoma tumorigenesis.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng1054</identifier><identifier>PMID: 12447372</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Agriculture ; Animal Genetics and Genomics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Biopsy ; brief-communication ; Cancer Research ; Cell Transformation, Neoplastic - genetics ; Complications and side effects ; Dermatology ; DNA Mutational Analysis ; Fundamental and applied biological sciences. Psychology ; Gene Frequency ; Gene Function ; Gene mutations ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic screening ; Health aspects ; Human Genetics ; Humans ; Identification and classification ; Medical sciences ; Melanoma ; Melanoma - genetics ; Melanoma - pathology ; Metastasis ; Methods ; Molecular and cellular biology ; Molecular genetics ; Mutagenesis. Repair ; Mutation ; Mutation, Missense - genetics ; Nevus - genetics ; Nevus - pathology ; Oncogene Proteins v-raf - chemistry ; Oncogene Proteins v-raf - genetics ; Polymerase Chain Reaction ; Risk factors ; Sarcoma ; Signal Transduction ; Tumors of the skin and soft tissue. Premalignant lesions</subject><ispartof>Nature genetics, 2003-01, Vol.33 (1), p.19-20</ispartof><rights>Springer Nature America, Inc. 2002</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jan 2003</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c530t-8fbc5f8f960894e6f1bb155c47c662fa4085cc0950c151bfb467d339dc2eb8193</citedby><cites>FETCH-LOGICAL-c530t-8fbc5f8f960894e6f1bb155c47c662fa4085cc0950c151bfb467d339dc2eb8193</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng1054$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng1054$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14690692$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12447372$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pollock, Pamela M.</creatorcontrib><creatorcontrib>Harper, Ursula L.</creatorcontrib><creatorcontrib>Hansen, Katherine S.</creatorcontrib><creatorcontrib>Yudt, Laura M.</creatorcontrib><creatorcontrib>Stark, Mitchell</creatorcontrib><creatorcontrib>Robbins, Christiane M.</creatorcontrib><creatorcontrib>Moses, Tracy Y.</creatorcontrib><creatorcontrib>Hostetter, Galen</creatorcontrib><creatorcontrib>Wagner, Urs</creatorcontrib><creatorcontrib>Kakareka, John</creatorcontrib><creatorcontrib>Salem, Ghadi</creatorcontrib><creatorcontrib>Pohida, Tom</creatorcontrib><creatorcontrib>Heenan, Peter</creatorcontrib><creatorcontrib>Duray, Paul</creatorcontrib><creatorcontrib>Kallioniemi, Olli</creatorcontrib><creatorcontrib>Hayward, Nicholas K.</creatorcontrib><creatorcontrib>Trent, Jeffrey M.</creatorcontrib><creatorcontrib>Meltzer, Paul S.</creatorcontrib><title>High frequency of BRAF mutations in nevi</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>To evaluate the timing of mutations in
BRAF
(v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on microdissected melanoma and nevi samples. We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. These data suggest that mutational activation of the RAS/RAF/MAPK pathway in nevi is a critical step in the initiation of melanocytic neoplasia but alone is insufficient for melanoma tumorigenesis.</description><subject>Agriculture</subject><subject>Animal Genetics and Genomics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Biopsy</subject><subject>brief-communication</subject><subject>Cancer Research</subject><subject>Cell Transformation, Neoplastic - genetics</subject><subject>Complications and side effects</subject><subject>Dermatology</subject><subject>DNA Mutational Analysis</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Frequency</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic screening</subject><subject>Health aspects</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Medical sciences</subject><subject>Melanoma</subject><subject>Melanoma - genetics</subject><subject>Melanoma - pathology</subject><subject>Metastasis</subject><subject>Methods</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Mutagenesis. Repair</subject><subject>Mutation</subject><subject>Mutation, Missense - genetics</subject><subject>Nevus - genetics</subject><subject>Nevus - pathology</subject><subject>Oncogene Proteins v-raf - chemistry</subject><subject>Oncogene Proteins v-raf - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Risk factors</subject><subject>Sarcoma</subject><subject>Signal Transduction</subject><subject>Tumors of the skin and soft tissue. 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Psychology</topic><topic>Gene Frequency</topic><topic>Gene Function</topic><topic>Gene mutations</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic screening</topic><topic>Health aspects</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Identification and classification</topic><topic>Medical sciences</topic><topic>Melanoma</topic><topic>Melanoma - genetics</topic><topic>Melanoma - pathology</topic><topic>Metastasis</topic><topic>Methods</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Mutagenesis. Repair</topic><topic>Mutation</topic><topic>Mutation, Missense - genetics</topic><topic>Nevus - genetics</topic><topic>Nevus - pathology</topic><topic>Oncogene Proteins v-raf - chemistry</topic><topic>Oncogene Proteins v-raf - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Risk factors</topic><topic>Sarcoma</topic><topic>Signal Transduction</topic><topic>Tumors of the skin and soft tissue. 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BRAF
(v-raf murine sarcoma viral oncogene homolog B1) during melanocytic neoplasia, we carried out mutation analysis on microdissected melanoma and nevi samples. We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. These data suggest that mutational activation of the RAS/RAF/MAPK pathway in nevi is a critical step in the initiation of melanocytic neoplasia but alone is insufficient for melanoma tumorigenesis.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>12447372</pmid><doi>10.1038/ng1054</doi><tpages>2</tpages></addata></record> |
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| ispartof | Nature genetics, 2003-01, Vol.33 (1), p.19-20 |
| issn | 1061-4036 1546-1718 |
| language | eng |
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| source | MEDLINE; Springer Nature - Complete Springer Journals; Nature |
| subjects | Agriculture Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Biopsy brief-communication Cancer Research Cell Transformation, Neoplastic - genetics Complications and side effects Dermatology DNA Mutational Analysis Fundamental and applied biological sciences. Psychology Gene Frequency Gene Function Gene mutations Genetic aspects Genetic Predisposition to Disease Genetic screening Health aspects Human Genetics Humans Identification and classification Medical sciences Melanoma Melanoma - genetics Melanoma - pathology Metastasis Methods Molecular and cellular biology Molecular genetics Mutagenesis. Repair Mutation Mutation, Missense - genetics Nevus - genetics Nevus - pathology Oncogene Proteins v-raf - chemistry Oncogene Proteins v-raf - genetics Polymerase Chain Reaction Risk factors Sarcoma Signal Transduction Tumors of the skin and soft tissue. Premalignant lesions |
| title | High frequency of BRAF mutations in nevi |
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