A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important mutation in this deadly disease, and may lead to more targeted anti-cancer therapies.<\/p>\n
The role of mutations in numerous genes and genomic changes in the development of melanoma \u2014 a skin cancer with over 70,000 new cases reported in the United States each year \u2014 is well established and continues to be the focus of intense research. Yet in approximately 30% of melanoma cases the genetic abnormalities are unclear. To deepen understanding of melanoma mutations, the Yale team conducted a comprehensive analysis using whole-exome sequencing of more than 200 melanoma samples from patients with the disease.<\/p>\n
The multidisciplinary team \u2014 drawing on their expertise in genetics, cancer, computational biology, pharmacology, and other disciplines \u2014 also tested the response of tumour cells with specific mutations to anti-cancer drugs.<\/p>\n
The researchers confirmed that a gene known as NF1 is a \u201cmajor player\u201d in the development of skin cancer. \u201cThe key finding is that roughly 45% of melanomas that do not harbour the known BRAF or NRAS mutations display loss of NF1 function, which leads to activation of the same cancer-causing pathway,\u201d said Dr. Michael Krauthammer, associate professor of pathology and the study\u2019s corresponding author.<\/p>\n
Additionally, researchers observed that melanoma patients with the NF1 mutation were older and had a greater number of mutations in the tumours. These include mutations in the same pathway, collectively known as RASopathy genes.<\/p>\n
Yet mutations in NF1 are not sufficient to cause skin cancer, said Ruth Halaban, senior research scientist in dermatology, a member of Yale Cancer Center, and lead author of the study. \u201cLoss of NF1 requires more accompanying changes to make a tumour,\u201d she explained. \u201cOur study identified changes in about 100 genes that are present only in the malignant cells and are likely to be causative. This panel of genes can now be used in precision medicine to diagnose malignant lesions and can be applied to personalized cancer treatment.\u201d<\/p>\n
By testing the response of the melanoma samples to two cancer drugs, the researchers also determined that, in addition to loss of NF1, multiple factors need to be tested to predict the response to the drugs. \u201cIt opens the door to more research,\u201d said Halaban, who is also principal investigator at Yale SPORE in Skin Cancer.
\nYale University<\/p>\n
Study identifies \u2018major player\u2019 in skin cancer genes
\nA multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important mutation in this deadly disease, and may lead to more targeted anti-cancer therapies.<\/p>\n
The role of mutations in numerous genes and genomic changes in the development of melanoma \u2014 a skin cancer with over 70,000 new cases reported in the United States each year \u2014 is well established and continues to be the focus of intense research. Yet in approximately 30% of melanoma cases the genetic abnormalities are unclear. To deepen understanding of melanoma mutations, the Yale team conducted a comprehensive analysis using whole-exome sequencing of more than 200 melanoma samples from patients with the disease.<\/p>\n
The multidisciplinary team \u2014 drawing on their expertise in genetics, cancer, computational biology, pharmacology, and other disciplines \u2014 also tested the response of tumour cells with specific mutations to anti-cancer drugs.<\/p>\n
The researchers confirmed that a gene known as NF1 is a \u201cmajor player\u201d in the development of skin cancer. \u201cThe key finding is that roughly 45% of melanomas that do not harbour the known BRAF or NRAS mutations display loss of NF1 function, which leads to activation of the same cancer-causing pathway,\u201d said Dr. Michael Krauthammer, associate professor of pathology and the study\u2019s corresponding author.<\/p>\n
Additionally, researchers observed that melanoma patients with the NF1 mutation were older and had a greater number of mutations in the tumours. These include mutations in the same pathway, collectively known as RASopathy genes.<\/p>\n
Yet mutations in NF1 are not sufficient to cause skin cancer, said Ruth Halaban, senior research scientist in dermatology, a member of Yale Cancer Center, and lead author of the study. \u201cLoss of NF1 requires more accompanying changes to make a tumour,\u201d she explained. \u201cOur study identified changes in about 100 genes that are present only in the malignant cells and are likely to be causative. This panel of genes can now be used in precision medicine to diagnose malignant lesions and can be applied to personalized cancer treatment.\u201d<\/p>\n
By testing the response of the melanoma samples to two cancer drugs, the researchers also determined that, in addition to loss of NF1, multiple factors need to be tested to predict the response to the drugs. \u201cIt opens the door to more research,\u201d said Halaban, who is also principal investigator at Yale SPORE in Skin Cancer.\nYale University<\/link>\n","protected":false},"excerpt":{"rendered":"
A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important mutation in this deadly disease, and may lead to more targeted anti-cancer therapies. The role of mutations in […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1363"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1363"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1363\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1363"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1363"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1363"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}