A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1. This gene is homozygously deleted from many tumour cell lines including melanomas, suggesting that CDKN2 is a good candidate for MLM. We have analysed CDKN2 coding sequences in pedigrees segregating 9p melanoma susceptibility and 38 other melanoma-prone families. In only two families were potential predisposing mutations identified. No evidence was found for heterozygous deletions of CDKN2 in the germline of melanoma-prone individuals. The low frequency of potential predisposing mutations detected suggests that either the majority of mutations fall outside the CDKN2 coding sequence or that CDKN2 is not MLM.

BackgroundThis study systematically reviewed the evidence on the influence of stigma and nihilism on lung cancer patterns of care; patients’ psychosocial and quality of life (QOL) outcomes; and how this may link to public health programs.MethodsMedline, EMBASE, ProQuest, CINAHL, PsycINFO databases were searched. Inclusion criteria were: included lung cancer patients and/or partners or caregivers and/or health professionals (either at least 80% of participants had lung cancer or were partners or caregivers of lung cancer patients, or there was a lung cancer specific sub-group focus or analysis), assessed stigma or nihilism with respect to lung cancer and published in English between 1st January 1999 and 31st January 2011. Trial quality and levels of evidence were assessed.ResultsEighteen articles describing 15 studies met inclusion criteria. The seven qualitative studies were high quality with regard to data collection, analysis and reporting; however most lacked a clear theoretical framework; did not address interviewer bias; or provide a rationale for sample size. The eight quantitative studies were generally of low quality with highly selected samples, non-comparable groups and low participation rates and employed divergent theoretical and measurement approaches. Stigma about lung cancer was reported by patients and health professionals and was related to poorer QOL and higher psychological distress in patients. Clear empirical explorations of nihilism were not evident. There is qualitative evidence that from the patients’ perspectives public health programs contribute to stigma about lung cancer and this was supported by published commentary.ConclusionsHealth-related stigma presents as a part of the lung cancer experience however there are clear limitations in the research to date. Future longitudinal and multi-level research is needed and this should be more clearly linked to relevant theory.

Survival from melanoma is strongly related to tumour thickness, thus earlier diagnosis has the potential to reduce mortality from this disease. However, in the absence of conclusive evidence that clinical skin examination reduces mortality, evidencebased assessments do not recommend population screening. We aimed to assess whether clinical whole-body skin examination is associated with a reduced incidence of thick melanoma and also whether screening is associated with an increased incidence of thin lesions (possible overdiagnosis). We conducted a population-based case-control study of all Queensland residents aged 20-75 years with a histologically confirmed first primary invasive cutaneous melanoma diagnosed between January 2000 and December 2003. Telephone interviews were completed by 3,762 eligible cases (78.0%) and 3,824 eligible controls (50.4%). Whole-body clinical skin examination in the three years before diagnosis was associated with a 14% lower risk of being diagnosed with a thick melanoma (>0.75 mm) (OR 5 0.86, 95% CI 5 0.75, 0.98). Risk decreased for melanomas of increasing thickness: the risk of being diagnosed with a melanoma 0.76-1.49 mm was reduced by 7% (OR 5 0.93, 95% CI 0.79, 1.10), by 17% for melanomas 1.50-2.99 mm (OR 5 0.83, 95% CI 5 0.65, 1.05) and by 40% for melanomas !3 mm (OR 5 0.60, 95% CI 5 0.43, 0.83). Screening was associated with a 38% higher risk of being diagnosed with a thin invasive melanoma ( 0.75 mm) (OR 5 1.38, 95% CI 5 1.22, 1.56). This is the strongest evidence to date that whole-body clinical skin examination reduces the incidence of thick melanoma. Because survival from melanoma is strongly related to tumour thickness, these results suggest that screening would reduce melanoma mortality.

Incidence rates for MCC in Queensland are at least double those of any that have been previously published elsewhere in the world. It is likely that Queensland's combination of a predominantly white population, outdoor lifestyle, and exposure to sunlight has played a role in this unwanted result. Interventions are required to increase awareness of MCC among clinicians and the public.