Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

doi:10.1136/jmg.2010.086538

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Article

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

Journal of medical genetics - 1 Apr 2011

Cust Anne E, Harland Mark, Makalic Enes, Schmidt Daniel, Dowty James G, Aitken Joanne F, Agha-Hamilton Chantelle, Armstrong Bruce K, Barrett Jenny H, Chan May, Chang Yu-Mei, Gascoyne Joanne, Giles Graham G, Holland Elizabeth A, Kefford Richard F, Kukalizch Kairen, Lowery Johanna, Randerson-Moor Juliette A, Schmid Helen, Taylor Claire F, Whitaker Linda, Hopper John L, Newton-Bishop Julia A, Mann Graham J, Bishop D Timothy, Jenkins Mark A

Abstract excerpt

BACKGROUND: CDKN2A mutations confer a substantial risk of cutaneous melanoma; however, the magnitude of risk is uncertain. METHODS: The study estimated the hazard ratio (HR) and the average age specific cumulative risk (ie, penetrance) of reported melanoma for CDKN2A mutation carriers in case families using a modified segregation analysis of the first and higher degree relatives of 35 population-based cases. The...

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PMID: 21325014
DOI: 10.1136/jmg.2010.086538
PMCID: PMC7432952

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