Genetics of Skin Cancer–for health professionals (PDQ®)
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Changes to This Summary (11/05/2015)
The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Added text about a case-control study of 415 cases and 415 controls in which, relative to Fitzpatrick Type I skin, individuals with increasingly darker skin had decreased risks of skin cancer (cited Asgari et al. as reference 31); the same study found that blue eyes and blond/red hair were also associated with increased risks of SCC, with crude odds ratios (ORs) of 1.7 for blue eyes, 1.5 for blond hair, and 2.2 for red hair.
Added text to state that in an independent survey-based study of 415 SCC cases and 415 controls, SCC risk was increased in those with a family history of SCC, even after adjustment for skin type, hair color, and eye color; this risk was elevated to an OR of 5.6 in those with a family history of melanoma, an OR of 9.8 in those with a family history of basal cell carcinoma (BCC), and an OR of 10.5 in those with a family history of multiple types of skin cancer.
Added de Ávila et al. as reference 90.
Revised text to state that another name for the tumor predisposition syndrome associated with BAP1 germline mutations is COMMON (cutaneous and ocular melanoma and atypicalmelanocytic proliferation with other internal neoplasms) syndrome. Also revised text to state that although data are currently limited, patients with germline mutations in BAP1may be at increased risk of lung adenocarcinoma, mesothelioma, BCC, and clear cell carcinoma of the kidney (cited Rai et al. as reference 143).
Added text to state that standard recommendations for screening and management of patients with deleterious BAP1 germline mutations are not currently available, but one group of experts has recommended annual ocular examinations starting at age 16 years, full-body skin examinations starting at age 20 years, and consideration of annual renal ultrasound and/or abdominal magnetic resonance imaging every 2 years.
Added level of evidence 5.
Added text to state that an independent study found a survival benefit in individuals carrying two MC1R variants (cited Taylor et al. as reference 187).
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
Genetics of Skin Cancer - National Cancer Institute
The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.
Added text about a case-control study of 415 cases and 415 controls in which, relative to Fitzpatrick Type I skin, individuals with increasingly darker skin had decreased risks of skin cancer (cited Asgari et al. as reference 31); the same study found that blue eyes and blond/red hair were also associated with increased risks of SCC, with crude odds ratios (ORs) of 1.7 for blue eyes, 1.5 for blond hair, and 2.2 for red hair.
Added text to state that in an independent survey-based study of 415 SCC cases and 415 controls, SCC risk was increased in those with a family history of SCC, even after adjustment for skin type, hair color, and eye color; this risk was elevated to an OR of 5.6 in those with a family history of melanoma, an OR of 9.8 in those with a family history of basal cell carcinoma (BCC), and an OR of 10.5 in those with a family history of multiple types of skin cancer.
Added de Ávila et al. as reference 90.
Revised text to state that another name for the tumor predisposition syndrome associated with BAP1 germline mutations is COMMON (cutaneous and ocular melanoma and atypicalmelanocytic proliferation with other internal neoplasms) syndrome. Also revised text to state that although data are currently limited, patients with germline mutations in BAP1may be at increased risk of lung adenocarcinoma, mesothelioma, BCC, and clear cell carcinoma of the kidney (cited Rai et al. as reference 143).
Added text to state that standard recommendations for screening and management of patients with deleterious BAP1 germline mutations are not currently available, but one group of experts has recommended annual ocular examinations starting at age 16 years, full-body skin examinations starting at age 20 years, and consideration of annual renal ultrasound and/or abdominal magnetic resonance imaging every 2 years.
Added level of evidence 5.
Added text to state that an independent study found a survival benefit in individuals carrying two MC1R variants (cited Taylor et al. as reference 187).
This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.
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