Genetic variations of patients with familial or multiple melanoma in Southern Brazil

Grazziotin, Thaís Corsetti; Rey, Maria Carolina Widholzer; Bica, Cláudia Giuliano; Pinto, Leonardo Araújo; Bonamigo, Renan Rangel; Puig-Butillé, Joan Antón; Cuéllar, Francisco; Puig, Susana

doi:10.1111/j.1468-3083.2012.04567.x

Cited by 7 publications

(10 citation statements)

References 30 publications

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“…Partial genetic information of the patients with melanoma from Spain and Brazil, and a subset of pedigrees from Uruguay, has been previously reported. 16 , 17 , 18 , 19 , 20 , 21 …”

Section: Methodsmentioning

confidence: 99%

“…Few studies have assessed the prevalence of CDKN2A mutations or MC1R variants and phenotypic characteristics in patients at high risk for melanoma from Latin American countries. CDKN2A mutations have been identified in 13.6% of melanoma-prone families from São Paulo, Brazil, 16 whereas one study reported no mutations in Porto Alegre, 17 and in a different cohort the mutation frequency was 7%. 18 In melanoma-prone families from Uruguay, 5/6 families had CDKN2A mutations.…”

Section: Introductionmentioning

confidence: 98%

See 1 more Smart Citation

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

Puig

Potrony

Cuéllar

et al. 2016

Genetics in Medicine

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Purpose:CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America.Genet Med 18 7, 727–736.Methods:CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained.Genet Med 18 7, 727–736.Results:Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients.Genet Med 18 7, 727–736.Conclusion:The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727–736.

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“…Partial genetic information of the patients with melanoma from Spain and Brazil, and a subset of pedigrees from Uruguay, has been previously reported. 16 , 17 , 18 , 19 , 20 , 21 …”

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

Puig

Potrony

Cuéllar

et al. 2016

Genetics in Medicine

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“…However, to the best of our knowledge, studies of associations between MC1R and skin cancer risk in Hispanic populations are lacking. Some studies have reported on the prevalence of some MC1R risk variants in Hispanic and Latinx sub-groups such as Mexican-American, Uruguayan and Brazilian, but most have either focused on populations at elevated risk of melanoma due to personal/family disease history 33,34 or they were conducted in the context of other diseases, such as depression 35,36 . One recent study set in New Mexico reported carriage of a medium or high risk MC1R variant in 63% of enrolled Hispanics 37 .…”

Section: Discussionmentioning

confidence: 99%

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population

Smit

Collazo-Roman

Vadaparampil

et al. 2020

Sci Rep

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Skin cancer risk information based on melanocortin-1 receptor (MC1R) variants could inform prevention and screening recommendations for Hispanics, but limited evidence exists on the impact of MC1R variants in Hispanic populations. We studied Hispanic subjects, predominately of puerto Rican heritage, from tampa, florida, US, and ponce, pR. Blood or saliva samples were collected by prospective recruitment or retrieved from biobanks for genotyping of MC1R variants and ancestry informative markers. participant demographic and self-reported phenotypic information was collected via biobank records or questionnaires. We determined associations of MC1R genetic risk categories and phenotypic variables and genetic ancestry. over half of participants carried MC1R variants known to increase risk of skin cancer, and there was diversity in the observed variants across sample populations. Associations between MC1R genetic risk groups and some pigmentation characteristics were identified. Among puerto Ricans, the proportion of participants carrying MC1R variants imparting elevated skin cancer risk was consistent across quartiles of european, African, and native American genetic ancestry. these findings demonstrate that MC1R variants are important for pigmentation characteristics in Hispanics and that carriage of high risk MC1R alleles occurs even among Hispanics with stronger African or native American genetic ancestry.

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“…In addition, there are approximately 3.03 and 2.59 new cases per 100,000 people for men and women, respectively, in Brazil. The three southernmost states of Brazil have the highest proportion of individuals of Northern European Caucasian ancestry, with approximately 6.96 new cases per 100,000 men and 6.5 per 100,000 women in 2016 [2,3]. Melanomas are one of the most aggressive malignant neoplasms.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Kindlin-1 and Ki-67 immunohistochemical expression in primary cutaneous malignant melanoma: a clinical series

Schuch

Azevedo

Furian³

et al. 2019

Appl Cancer Res

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Background: The capacity for prognostic prediction of cutaneous melanoma, one of the most aggressive cancers, is still difficult due to the tumor heterogeneity and lack of reliable tumor markers. The objective of this study is to correlate, through immunohistochemistry, a Ki-67 and Kindlin-1 staining in malignant melanomas with the prognosis of the disease. Methods: A historical cohort study. Immunohistochemistry, using mouse anti-human Kindlin-1 and Ki-67 monoclonal antibodies, was performed using tissue blocks from primary cutaneous melanoma patients treated between 2006 and 2014 at our institution. Information regarding pathological data and outcomes were retrieved from medical records. Statistical analyses were conducted in SPSS version 18.0.Results: Thirty patients were included. The median age was from 50.93 ± 15.31 years old. The expression of Ki-67 was detected in all patients with primary cutaneous melanoma, while Kindlin-1 was negative in two. Kindlin expression was not significantly correlated with Ki-67 expression by Spearman's rank correlation analysis (P = 0.46), as well as the expression of both markers and the clinical stage (P = 0.34 and 0.18, respectively). Breslow, Clark and mitotic rate were significantly correlated with AJCC stage (P = 0.001). Conclusion: Other studies investigating clinical evolution are needed to further test the potential of these markers as possible prognostic markers.

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Genetic variations of patients with familial or multiple melanoma in Southern Brazil

Cited by 7 publications

References 30 publications

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population

Evaluation of Kindlin-1 and Ki-67 immunohistochemical expression in primary cutaneous malignant melanoma: a clinical series

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