当前位置： SCI文献检索 > JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY期刊下所有文献 > Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.

Abstract：

BACKGROUND:Although rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5%-40% of melanoma cases reported in melanoma-prone families. We sought to determine whether MELPREDICT was generalizable to a global series of families with melanoma and whether performance improvements can be achieved. METHODS:In total, 2116 familial melanoma cases were ascertained by the international GenoMEL Consortium. We recapitulated the MELPREDICT model within our data (GenoMELPREDICT) to assess performance improvements by adding phenotypic risk factors and history of pancreatic cancer. We report areas under the curve (AUC) with 95% confidence intervals (CIs) along with net reclassification indices (NRIs) as performance metrics. RESULTS:MELPREDICT performed well (AUC 0.752, 95% CI 0.730-0.775), and GenoMELPREDICT performance was similar (AUC 0.748, 95% CI 0.726-0.771). Adding a reported history of pancreatic cancer yielded discriminatory improvement (P < .0001) in GenoMELPREDICT (AUC 0.772, 95% CI 0.750-0.793, NRI 0.40). Including phenotypic risk factors did not improve performance. CONCLUSION:The MELPREDICT model functioned well in a global data set of familial melanoma cases. Adding pancreatic cancer history improved model prediction. GenoMELPREDICT is a simple tool for predicting CDKN2A mutational status among melanoma patients from melanoma-prone families and can aid in directing these patients to receive genetic testing or cancer risk counseling.

journal_name

J Am Acad Dermatol

journal_title

Journal of the American Academy of Dermatology

authors

Taylor NJ,Mitra N,Qian L,Avril MF,Bishop DT,Bressac-de Paillerets B,Bruno W,Calista D,Cuellar F,Cust AE,Demenais F,Elder DE,Gerdes AM,Ghiorzo P,Goldstein AM,Grazziotin TC,Gruis NA,Hansson J,Harland M,Hayward NK,Ho

doi

10.1016/j.jaad.2019.01.079

subject

Has Abstract

pub_date

2019-08-01 00:00:00

pages

386-394

issue

2

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(19)30190-2

journal_volume

81

pub_type

杂志文章

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