Literature DB >> 25600792

[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].

M-F Avril1, P Bahadoran2, O Cabaret3, O Caron4, A de la Fouchardière5, F Demenais6, L Desjardins7, T Frébourg8, P Hammel9, M-T Leccia10, F Lesueur11, E Mahé12, L Martin13, E Maubec14, A Remenieras15, S Richard16, C Robert17, N Soufir18, D Stoppa-Lyonnet19, L Thomas20, P Vabres21, B Bressac-de Paillerets22.   

Abstract

Cutaneous melanoma is a multifactorial disease resulting from both environmental and genetic factors. Five susceptibility genes have been identified over the past years, comprising high-risk susceptibility genes (CDKN2A, CDK4, and BAP1 genes) and intermediate-risk susceptibility genes (MITF, and MC1R genes). The aim of this expert consensus was to define clinical contexts justifying genetic analyses, to describe the conduct of these analyses, and to propose surveillance recommendations. Given the regulatory constraints, it is recommended that dermatologists work in tandem with a geneticist. Genetic analysis may be prescribed when at least two episodes of histologically proven invasive cutaneous melanoma have been diagnosed before the age of 75 years in two 1st or 2nd degree relatives or in the same individual. The occurrence in the same individual or in a relative of invasive cutaneous melanoma with ocular melanoma, pancreatic cancer, renal cancer, mesothelioma or a central nervous system tumour are also indications for genetic testing. Management is based upon properly managed photoprotection and dermatological monitoring according to genetic status. Finally, depending on the mutated gene and the familial history, associated tumour risks require specific management (e.g. ocular melanoma, pancreatic cancer). Due to the rapid progress in genetics, these recommendations will need to be updated regularly.
Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Counselling; Genetic predisposition; Genetic testing; Melanoma; Mélanome; Prescription; Prise en charge; Prédisposition génétique

Mesh:

Substances:

Year:  2014        PMID: 25600792     DOI: 10.1016/j.annder.2014.09.606

Source DB:  PubMed          Journal:  Ann Dermatol Venereol        ISSN: 0151-9638            Impact factor:   0.777


  4 in total

1.  Improvement of Genetic Testing for Cutaneous Melanoma in Countries With Low to Moderate Incidence: The Rule of 2 vs the Rule of 3.

Authors:  Juliette Delaunay; Ludovic Martin; Brigitte Bressac-de Paillerets; Gerard Duru; Olivier Ingster; Luc Thomas
Journal:  JAMA Dermatol       Date:  2017-11-01       Impact factor: 10.282

2.  Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Authors:  Lorenza Pastorino; Virginia Andreotti; Bruna Dalmasso; Irene Vanni; Giulia Ciccarese; Mario Mandalà; Giuseppe Spadola; Maria Antonietta Pizzichetta; Giovanni Ponti; Maria Grazia Tibiletti; Elena Sala; Maurizio Genuardi; Pietro Chiurazzi; Gabriele Maccanti; Siranoush Manoukian; Serena Sestini; Rita Danesi; Valentina Zampiga; Roberta La Starza; Ignazio Stanganelli; Alberto Ballestrero; Luca Mastracci; Federica Grillo; Stefania Sciallero; Federica Cecchi; Enrica Teresa Tanda; Francesco Spagnolo; Paola Queirolo; Alisa M Goldstein; William Bruno; Paola Ghiorzo
Journal:  Cancers (Basel)       Date:  2020-04-19       Impact factor: 6.639

3.  [Skin cancers in Madagascar: where do we stand?]

Authors:  Andrianarison Malalaniaina; Tika Lovasoa; Ranaivo Irina Mamisoa; Razakanaivo Malala; Ramarozatovo Lala Soavina; Rafaramino Florine; Rapelanoro Rabenja Fahafahantsoa
Journal:  Pan Afr Med J       Date:  2019-11-29

4.  Feedback of extended panel sequencing in 1530 patients referred for suspicion of hereditary predisposition to adult cancers.

Authors:  Mathias Cavaillé; Nancy Uhrhammer; Maud Privat; Flora Ponelle-Chachuat; Mathilde Gay-Bellile; Mathis Lepage; Sandrine Viala; Yannick Bidet; Yves-Jean Bignon
Journal:  Clin Genet       Date:  2020-10-21       Impact factor: 4.438

  4 in total

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