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

Taylor, Nicholas; Mitra, Nandita; Lü, Qian; Avril, Marie-Françoise; Bishop, D. Timothy; Paillerets, Brigitte Bressac‐de; Bruno, William; Calista, Donato; Cuéllar, Francisco; Cust, Anne E.; Demenais, Florence; Elder, David E.; Gerdes, Anne-Marie; Ghiorzo, Paola; Goldstein, Alisa M.; Grazziotin, Thaís Corsetti; Gruis, Nelleke A.; Hansson, Johan; Harland, Mark; Hayward, Nicholas K.; Hočevar, Marko; Höiom, Veronica; Holland, Elizabeth A.; Ingvar, Christian; Landi, Maria Teresa; Landman, Gilles; Larre-Borges, Alejandra; Mann, Graham J.; Nagore, Eduardo; Olsson, Håkan; Palmer, Jane M.; Perić, Barbara; Pjanova, Dace; Pritchard, Antonia L.; Puig, Susana; Schmid, Helen; Stoep, Nienke van der; Tucker, Margaret A.; Wadt, Karin; Yang, Xiaohong R.; Newton-Bishop, Julia; Kanetsky, Peter A.

doi:10.1016/j.jaad.2019.01.079

Cited by 19 publications

(14 citation statements)

References 25 publications

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“…Moreover, other scores are either CDKN2Acentered, or exclude melanoma-associated cancers other than pancreatic cancer. [32][33][34][35] In our cohort, selected with less conservative criteria compared to high-incidence countries, single-gene (CDKN2A) testing leads to a low rate of identified PVs (<5% in selected categories). Nevertheless, CDKN2A PVs still represent the majority of identified variants, due to the presence of founder or recurring PVs, especially in northwestern Italy.…”

Section: Discussionmentioning

confidence: 99%

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Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup

Bruno,

Dalmasso,

Barile

et al. 2022

ESMO Open

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Section: Discussionmentioning

confidence: 99%

“…Moreover, other scores are either CDKN2A -centered, or exclude melanoma-associated cancers other than pancreatic cancer. 32 , 33 , 34 , 35 …”

Section: Discussionmentioning

confidence: 99%

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup

Bruno,

Dalmasso,

Barile

et al. 2022

ESMO Open

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“…However, the incidence of melanoma in childhood and at sites that are minimally exposed to the sun are also registered [152,153]. There is hope that genome-wide studies will help to identify the heritable and environmentally-triggered contributors to melanoma risk [153,154,155,156,157]. Another important issue is to correctly prognose the melanoma progression.…”

Section: Fgf and Fgfr As Molecular Prognostic Markersmentioning

confidence: 99%

Fibroblast Growth Factor Receptor Signaling in Skin Cancers

Czyż

2019

Cells

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Fibroblast growth factor (FGF)/Fibroblast growth factor receptor (FGFR) signaling regulates various cellular processes during the embryonic development and in the adult organism. In the skin, fibroblasts and keratinocytes control proliferation and survival of melanocytes in a paracrine manner via several signaling molecules, including FGFs. FGF/FGFR signaling contributes to the skin surface expansion in childhood or during wound healing, and skin protection from UV light damage. Aberrant FGF/FGFR signaling has been implicated in many disorders, including cancer. In melanoma cells, the FGFR expression is low, probably because of the strong endogenous mutation-driven constitutive activation of the downstream mitogen-activated protein kinase-extracellular signal-regulated kinase (MAPK-ERK) signaling pathway. FGFR1 is exceptional as it is expressed in the majority of melanomas at a high level. Melanoma cells that acquired the capacity to synthesize FGFs can influence the neighboring cells in the tumor niche, such as endothelial cells, fibroblasts, or other melanoma cells. In this way, FGF/FGFR signaling contributes to intratumoral angiogenesis, melanoma cell survival, and development of resistance to therapeutics. Therefore, inhibitors of aberrant FGF/FGFR signaling are considered as drugs in combination treatment. The ongoing LOGIC-2 phase II clinical trial aims to find out whether targeting the FGF/FGFR signaling pathway with BGJ398 may be a good therapeutic strategy in melanoma patients who develop resistance to v-Raf murine sarcoma viral oncogene homolog B (BRAF)/MEK inhibitors.

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“…For that purpose, the consensus on the testing protocol is essential. For example, to test a person for a pathogenic variant of the CDKN2A gene, there should be at least three first- or second-degree relatives on the same side of the family with the disease plus a positive prediction test, such as GenoMELPREDICT [ 93 ] or evidence of pathogenetic variant of this gene in a family member [ 94 ]. When making recommendations, the following factors should be considered: number of family members with a confirmed diagnosis of the skin or ocular melanoma; melanoma before the age of 40; and presence of pancreatic cancer or some other malignancy [ 95 ].…”

Section: Genetic Counselingmentioning

confidence: 99%

Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review

Vranić

Šerman

Glibo

et al. 2022

Bosn J of Basic Med Sci

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Melanoma is a highly aggressive cancer originating from melanocytes. Its etiopathogenesis is strongly related to genetic, epigenetic, and environmental factors. Melanomas encountered in clinical practice are predominantly sporadic, whereas hereditary melanomas account for approximately 10% of the cases. Hereditary melanomas mainly develop due to mutations in the CDKN2A gene, which encodes two tumor suppressor proteins involved in the cell cycle regulation. CDKN2A, along with CDK4, TERT, and POT1 genes, is a high-risk gene for melanoma. Among the genes that carry a moderate risk are MC1R and MITF, whose protein products are involved in melanin synthesis. The environment also contributes to the development of melanoma. Patients at risk of melanoma should be offered genetic counseling to discuss genetic testing options and the importance of skin UV protection, avoidance of sun exposure, and regular preventive dermatological examinations. Although cancer screening cannot prevent the development of the disease, it allows for early diagnosis when the survival rate is the highest.

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

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

Cited by 19 publications

References 25 publications

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup

Fibroblast Growth Factor Receptor Signaling in Skin Cancers

Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review

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