High frequency of BRAF mutations in nevi

Pollock, Pamela M.; Harper, Ursula L.; Hansen, Katherine; Yudt, Laura M.; Stark, Mitchell; Robbins, Christiane M.; Moses, Tracy; Hostetter, Galen; Wagner, Urs; Kakareka, John W.; Salem, Ghadi; Pohida, Tom; Heenan, Peter J.; Duray, Paul H.; Kallioniemi, Olli; Hayward, Nicholas K.; Trent, Jeffrey M.; Meltzer, Paul S.

doi:10.1038/ng1054

Cited by 1,534 publications

(1,302 citation statements)

References 4 publications

Supporting

Mentioning

1,199

Contrasting

Unclassified

Order By: Relevance

“…These findings are plausible as approximately 70 % of nevi contain BRAF mutations [194]. BRAF mutations were associated with the ability to tan but not with freckling or hair or eye color [93,228].…”

Section: Clinical Characteristics Of Tumor Subtypesmentioning

confidence: 80%

Melanoma Epidemiology and Prevention

et al. 2015

View full text Add to dashboard Cite

The epidemiology of melanoma is complex, and individual risk depends on sun exposure, host factors, and genetic factors, and in their interactions as well. Sun exposure can be classified as intermittent, chronic, or cumulative (overall) exposure, and each appears to have a different effect on type of melanoma. Other environmental factors, such as chemical exposures-either through occupation, atmosphere, or food-may increase risk for melanoma, and this area warrants further study. Host factors that are well known to be important are the numbers and types of nevi and the skin phenotype. Genetic factors are classified as

show abstract

Section: Clinical Characteristics Of Tumor Subtypesmentioning

confidence: 80%

Melanoma Epidemiology and Prevention

et al. 2015

View full text Add to dashboard Cite

show abstract

“…BRAF mutations were first assayed by allele-specific PCR (codon V600E) by previously described methods. [17][18][19] Two sets of allele-specific primers (forward and reverse gene coding strand) were designed to duplex with a single pair of GAPDH primers as DNA quality internal control to amplify the mutated allele. Following allele-specific PCR, direct DNA Sanger sequencing was used to confirm the mutation positive cases and a few allele-specific PCR failed cases (as indicated by negative GAPDH PCR).…”

Section: Dna Analysesmentioning

confidence: 99%

Immunohistochemistry with a mutation-specific monoclonal antibody as a screening tool for the BRAFV600E mutational status in primary cutaneous malignant melanoma

2013

View full text Add to dashboard Cite

The V600E mutation of BRAF has emerged as both an effective biomarker and therapeutic target for select benign and malignant cutaneous and non-cutaneous human tumors and is typically determined using DNAbased techniques that include allele-specific PCR and direct DNA sequencing. Recently however, the development of new antibodies directed against the V600E protein has opened the door for an easier and more efficient strategy for identifying this mutation. Our present aim was to determine the efficacy of one such antibody, anti-B-Raf (V600E), a mouse monoclonal antibody in which the immunogen is a synthetic peptide derived from the internal region of BRAFV600E. A total of 35 cases of primary cutaneous melanoma were evaluated using a combination of DNA-based techniques that included allele-specific PCR and/or direct DNA sequencing and immunohistochemistry. Cases of papillary thyroid carcinomas (n ¼ 5) and colorectal carcinomas (n ¼ 5), known to harbor the BRAFV600E mutation, served as positive controls for the study. DNA analyses revealed that 6 of 35 (17%) cases of the primary cutaneous malignant melanoma possessed the BRAFV600E mutation. For immunohistochemical analyses, cytoplasmic positivity with anti-B-Raf was noted in 7 of 35 (20%) cases of primary melanoma and in all 10 positive controls. Statistical analyses of the data demonstrated that the sensitivity of the immunohistochemistry was 100% and specificity was 97%. Findings from the current study support the potential use of immunohistochemistry as an ancillary screening tool to assess the BRAFV600E mutation status in primary cutaneous melanoma.

show abstract

“…The best example of this are the cells found in the naevi (moles) present on the skin of many humans. These often have oncogenic mutations but have undergone senescence and therefore fail to develop into malignant cancers (Pollock et al, 2003;Michaloglou et al, 2005).…”

Section: Introductionmentioning

confidence: 99%