CDKN2A novel mutation in a patient from a melanoma-prone family.

Abstract:

:CDKN2A is thought to be the main candidate gene for melanoma susceptibility. Deletion or mutations in the CDKN2A gene may produce an imbalance between functional p16 and cyclin D, causing abnormal cell growth. We here describe a novel mutation consisting of a 1 bp deletion at nucleotide position 201 (codon 67) (CACGGcGCG) resulting in a truncated protein (stop codon 145). The patient, a female subject from a melanoma-prone family, presented at the age of 47 years with a superficial spreading melanoma of the trunk. Her father had colon cancer at the age of 43 years and melanoma at 63 years, her uncle suffered from gastric cancer, and her grandfather had laryngeal cancer.

journal_name

Melanoma Res

journal_title

Melanoma research

authors

Grammatico P,Binni F,Eibenschutz L,De Bernardo C,Grammatico B,Rinaldi R,De Simone P,Catricalà C

doi

10.1097/00008390-200110000-00002

subject

Has Abstract

pub_date

2001-10-01 00:00:00

pages

447-9

issue

5

eissn

0960-8931

issn

1473-5636

journal_volume

11

pub_type

杂志文章
  • 20-year assessment of metastatic latency and subsequent time to death after proton therapy for uveal melanomas.

    abstract::The aim of this study was to evaluate metastatic latency and survival after the occurrence of metastases in patients with choroidal/ciliary body melanoma treated with proton therapy. This was a retrospective cohort study. All consecutive patients with choroidal/ciliary body melanoma treated with proton therapy between...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000519

    authors: Bellocq D,Roy P,Kodjikian L,Mathis T,Nguyen AM,Herault J,Rivoire M,Négrier S,Thariat J,Grange JD

    更新日期:2020-06-01 00:00:00

  • Intracellular signaling modules linking DNA damage to secretome changes in senescent melanoma cells.

    abstract::Cellular senescence is a major barricade on the path of cancer development, yet proteins secreted from senescent cells exert complex and often discordant effects on subsequent cancer evolution. Somatic genome alternations driving the formation of nevi and melanoma are efficient inducers of cellular senescence. Melanoc...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000671

    authors: Chavanet A,Hill KR,Jiménez-Andrade Y,Choo MK,White K,Park JM

    更新日期:2020-08-01 00:00:00

  • Swimming and the risk of cutaneous melanoma.

    abstract::Recreational exposure to the sun may not explain fully current trends in melanoma incidence. The hypothesis was examined whether carcinogens in water play a role in the development of cutaneous melanoma. In a case-control study, 128 melanoma patients and 168 patients with other types of malignancy completed a detailed...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199410000-00002

    authors: Nelemans PJ,Rampen FH,Groenendal H,Kiemeney LA,Ruiter DJ,Verbeek AL

    更新日期:1994-10-01 00:00:00

  • Gallic acid inhibits the migration and invasion of A375.S2 human melanoma cells through the inhibition of matrix metalloproteinase-2 and Ras.

    abstract::Melanoma is one of the most common cancers worldwide and its incidence has been increasing over the past few decades. Gallic acid (GA) can inhibit the growth of human cancer cells in vitro and in vivo. However, there is no available information to address the effects of GA on migration and invasion of human skin cance...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0b013e3283414444

    authors: Lo C,Lai TY,Yang JS,Yang JH,Ma YS,Weng SW,Lin HY,Chen HY,Lin JG,Chung JG

    更新日期:2011-08-01 00:00:00

  • Compliance with guidelines in the surgical management of cutaneous melanoma across the USA.

    abstract::The National Comprehensive Cancer Network has formulated guidelines for the management of cutaneous malignant melanoma with regard to resection margins (RMs) and regional staging. The aim of this study was to assess compliance with these recommendations in the general population of the USA. The Surveillance, Epidemiol...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0b013e32836254bd

    authors: Wasif N,Gray RJ,Bagaria SP,Pockaj BA

    更新日期:2013-08-01 00:00:00

  • Computer versus human diagnosis of melanoma: evaluation of the feasibility of an automated diagnostic system in a prospective clinical trial.

    abstract::The aim of this study was to evaluate the accuracy of a computer-based system for the automated diagnosis of melanoma in the hands of nonexpert physicians. We performed a prospective comparison between nonexperts using computer assistance and experts without assistance in the setting of a tertiary referral center at a...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0b013e32832a1e41

    authors: Dreiseitl S,Binder M,Hable K,Kittler H

    更新日期:2009-06-01 00:00:00

  • Comparative outcomes and toxicities for ruthenium-106 versus palladium-103 in the treatment of choroidal melanoma.

    abstract::For the treatment of choroidal melanoma, palladium-103 (Pd) and ruthenium-106 (Ru) plaque brachytherapy shows reduced toxicity compared with the historical standard iodine-125. No report has directly compared the clinical outcomes between Pd and Ru, and the reasons for the selection of one over the other remain purely...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000420

    authors: Danish H,Ferris MJ,Balagamwala E,Switchenko JM,Patel KR,Choudhary M,Craven C,Mendoza P,Suh J,Bergstrom C,Grossniklaus HE,M Aaberg T Sr,Singh A,Crocker IR,Khan MK

    更新日期:2018-04-01 00:00:00

  • BRAF inhibition for advanced locoregional BRAF V600E mutant melanoma: a potential neoadjuvant strategy.

    abstract::Selective BRAF inhibitors (BRAFi) yield objective responses in 50% of patients with metastatic BRAF V600E mutant melanoma. Adding an MEK inhibitor increases this response rate to 70%. Limited data are available on the outcomes of unresectable stage III patients, and it remains unclear whether BRAF-targeted therapy can...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000214

    authors: Sloot S,Zager JS,Kudchadkar RR,Messina JL,Benedict JJ,Gonzalez RJ,DeConti R,Turner LM,McCardle T,Smalley KS,Weber JS,Sondak VK,Gibney GT

    更新日期:2016-02-01 00:00:00

  • Superantigen-induced lysis of melanoma cells.

    abstract::Superantigens like the Staphylococcus enterotoxin A (SEA) can direct cytotoxic T lymphocytes expressing certain T cell receptor V beta regions to lyse MHC class II-positive target cells. This superantigen-dependent cellular cytotoxicity (SDCC) has been extended to MHC class II-negative tumour cells by targeting T cell...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199706000-00005

    authors: Krull F,Holzer U,Ihle J,Bethge W,Fierlbeck G,Kalland T,Dohlsten M,Niethammer D,Dannecker GE

    更新日期:1997-06-01 00:00:00

  • Results obtained by using a computerized image analysis system designed as an aid to diagnosis of cutaneous melanoma.

    abstract::Results obtained using a computerized image analysis system as an aid to clinical diagnosis of melanoma are reported. The system comprises a colour television camera connected through a digitizing board to a 386 personal computer. By means of original algorithms able to measure the shape, the colours and texture of a ...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199209000-00004

    authors: Cascinelli N,Ferrario M,Bufalino R,Zurrida S,Galimberti V,Mascheroni L,Bartoli C,Clemente C

    更新日期:1992-09-01 00:00:00

  • Recreational exposure to sunlight and lack of information as risk factors for cutaneous malignant melanoma. Results of an European Organization for Research and Treatment of Cancer (EORTC) case-control study in Belgium, France and Germany. The EORTC Malig

    abstract::This study addressed the impact of exposure to ultraviolet radiation on the risk of cutaneous malignant melanoma (CMM), as well as the behavioral components at stake in its occurrence. We performed a one-to-one unmatched case-control study among subjects aged 20 years or more with naturally non-pigmented skin in Germa...

    journal_title:Melanoma research

    pub_type: 杂志文章,多中心研究

    doi:10.1097/00008390-199404000-00001

    authors: Autier P,Doré JF,Lejeune F,Koelmel KF,Geffeler O,Hille P,Cesarini JP,Liénard D,Liabeuf A,Joarlette M

    更新日期:1994-04-01 00:00:00

  • Immunohistochemical analysis of the S100A1, S100B, CD44 and Bcl-2 antigens and the rate of cell proliferation assessed by Ki-67 antibody in benign and malignant melanocytic tumours.

    abstract::Malignant melanomas usually have an unfavourable prognosis and poor response to chemotherapy. Deregulation of cell proliferation, programmed cell death and intercellular interactions are among several important mechanisms that might lead to malignant transformation of melanocytes and melanoma progression. The S100A1, ...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0b013e3283350554

    authors: Sviatoha V,Tani E,Kleina R,Sperga M,Skoog L

    更新日期:2010-04-01 00:00:00

  • A novel KRAS mutation in metastasic conjunctival melanoma: a case report and literature review.

    abstract::Conjunctival melanoma is a rare disease, and little is known about its molecular background. Here, we present the case of a 48-year-old patient with conjunctival melanoma and metachronic lymph node and skin metastasis with KRAS p.K117Y mutation in exon 4 in all the lesions. The cancer genome interpreter predicted this...

    journal_title:Melanoma research

    pub_type: 杂志文章,评审

    doi:10.1097/CMR.0000000000000423

    authors: Del Carpio Huerta LP,Mas Castells M,Anguera Palacios G,Sullivan I,Gonzalez Vidal A,Majem Tarruella M

    更新日期:2018-04-01 00:00:00

  • Activation of the CXCR4 chemokine receptor enhances biological functions associated with B16 melanoma liver metastasis.

    abstract::The CXCR4 chemokine receptor plays an essential role in the homing of cells to organs expressing its ligand, CXCL12. CXCR4 expressed on tumor cells might regulate their traffic during metastasis. Here, we investigated whether the activation of CXCR4 on B16 murine melanoma cells regulates biological functions associate...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000346

    authors: Mendt M,Cardier JE

    更新日期:2017-08-01 00:00:00

  • Molecular and prognostic classification of advanced melanoma: a multi-marker microcontamination assay of peripheral blood stem cells.

    abstract::The presence or absence of melanoma cells in human peripheral blood has recently been shown to be associated with disease prognosis, including overall survival. The detection of tyrosinase mRNA-positive circulating melanoma cells by reverse transcription-polymerase chain reaction (RT-PCR) has been limited to dissemina...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-200008000-00007

    authors: Schrader AJ,Probst-Kepper M,Grosse J,Kunter U,Schenk F,Franzke A,Atzpodien J,Buer J

    更新日期:2000-08-01 00:00:00

  • MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project.

    abstract::Little is known on whether melanocortin 1 receptor (MC1R) associated cutaneous melanoma (CM) risk varies depending on histological subtype and body site, and whether tumour thickness at diagnosis (the most important prognostic factor for CM patients) differs between MC1R variant carriers and wild-type individuals. We ...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000668

    authors: Caini S,Gandini S,Botta F,Tagliabue E,Raimondi S,Nagore E,Zanna I,Maisonneuve P,Newton-Bishop J,Polsky D,Lazovich D,Kumar R,Kanetsky PA,Hoiom V,Ghiorzo P,Landi MT,Ribas G,Menin C,Stratigos AJ,Palmieri G,Guida G,

    更新日期:2020-10-01 00:00:00

  • Overexpression of HER-2 in thick melanoma.

    abstract::In this study we evaluated the overexpression status of HER-2 and its prognostic significance on survival in patients with thick cutaneous malignant melanoma. The immuno-alkaline phosphatase antigen detection technique was applied to archival diagnostic material from 51 patients with primary lesions measuring >or= 10 ...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-200204000-00006

    authors: Eliopoulos P,Mohammed MQ,Henry K,Retsas S

    更新日期:2002-04-01 00:00:00

  • Relationship between 4-hydroxyanisole toxicity and dopa oxidase activity for three melanoma cell lines.

    abstract::We studied the response of mouse B16F10 and SK-MEL-28 and SK-MEL-1 human melanoma cell lines to treatment with 4-hydroxyanisole (4-HA), and attempted to relate the response to the dopa oxidase levels and the morphological characteristics of each cell line. Clear dose-response curves were observed after 24 h of treatme...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199710000-00003

    authors: Rodriguez-Vicente J,Vicente-Ortega V,Canteras-Jordana M,Calderon-Rubiales F

    更新日期:1997-10-01 00:00:00

  • Quality of life patient-reported outcomes for locally advanced cutaneous melanoma.

    abstract::Locally advanced cutaneous melanoma has marked quality-of-life implications; however, the patient experience of symptom management and subsequent impact on quality of life has not been well described. This study aims to address the impact on patients of advanced cutaneous melanoma through qualitative interviews. Adult...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000425

    authors: Weitman ES,Perez M,Thompson JF,Andtbacka RHI,Dalton J,Martin ML,Miller T,Gwaltney C,Sarson D,Wachter E,Zager JS

    更新日期:2018-04-01 00:00:00

  • Phase II randomized study of dacarbazine, carmustine, cisplatin and tamoxifen versus dacarbazine alone in advanced melanoma patients.

    abstract::This randomized phase II trial was performed to define the activity and toxicity of the combination of dacarbazine (DTIC), carmustine (BCNU), cisplatin (DDP) and tamoxifen (DBDT regimen) versus DTIC alone in patients with metastatic melanoma. Sixty patients with metastatic melanoma were randomly assigned to receive BC...

    journal_title:Melanoma research

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1097/00008390-200104000-00015

    authors: Chiarion Sileni V,Nortilli R,Aversa SM,Paccagnella A,Medici M,Corti L,Favaretto AG,Cetto GL,Monfardini S

    更新日期:2001-04-01 00:00:00

  • Cytotoxic effects of violacein in human uveal melanoma cell lines.

    abstract::Violacein is the main pigment produced by Chromobacterium violaceum, a saprophytic gram-negative bacillus. Violacein is formed by the condensation of two modified tryptophan molecules and has potential anti-neoplastic effects. The purpose of this pilot study was to investigate the in vitro activity of violacein in hum...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-200410000-00014

    authors: Saraiva VS,Marshall JC,Cools-Lartigue J,Burnier MN Jr

    更新日期:2004-10-01 00:00:00

  • Parallel risk assessment of melanoma and basal cell carcinoma: skin characteristics and sun exposure.

    abstract::In this study we compared the strength of the association of constitutional factors and sun exposure with cutaneous malignant melanoma (CMM) and basal cell carcinoma (BCC). We analysed 260 incident cases of CMM, 425 incident cases of BCC and two sets of population controls from previous case-control studies conducted ...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199812000-00013

    authors: Rosso S,Zanetti R,Pippione M,Sancho-Garnier H

    更新日期:1998-12-01 00:00:00

  • Cytokine production by CD4+ T-cells responding to antigen presentation by melanoma cells.

    abstract::Melanoma cells are unusual because, unlike most epithelial tumours, constitutive expression of HLA class II antigens is common. We have previously demonstrated that a peptide-specific CD4+ T-cell clone proliferates briskly in response to peptide and HLA class II expressing melanoma cell lines derived from metastases. ...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199904000-00010

    authors: Brady MS,Eckels DD,Lee F,Ree SY,Lee JS

    更新日期:1999-04-01 00:00:00

  • Cumulative dermatologic toxicity with ipilimumab and vemurafenib responsive to corticosteroids.

    abstract::Dermatologic toxicity is a known reaction of ipilimumab and vemurafenib. Because of the lack of effective treatments and aggressive nature of melanoma, treatments are often discontinued and new treatments are initiated in rapid succession. We report what we believe to be the first case of cumulative dermatologic toxic...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000018

    authors: Ludlow SP,Pasikhova Y

    更新日期:2013-12-01 00:00:00

  • Metformin: oxidative and proliferative parameters in-vitro and in-vivo models of murine melanoma.

    abstract::Cutaneous melanoma is one of the most lethal cancers because of its increased rate of metastasis and resistance to available therapeutic options. Early studies indicate that metformin has beneficial effects on some types of cancer, including melanoma. To clarify knowledge of the mechanism of action of metformin on thi...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0000000000000391

    authors: de Souza Neto FP,Bernardes SS,Marinello PC,Melo GP,Luiz RC,Cecchini R,Cecchini AL

    更新日期:2017-12-01 00:00:00

  • Melanoma vasculogenic mimicry is strongly related to reactive oxygen species level.

    abstract::The concept of 'vasculogenic mimicry' (VM) was introduced to describe the unique ability of highly invasive tumor cells to form capillary-like structures (CLS) and matrix-rich patterned network in three-dimensional culture that mimic embryonic vasculogenic network. Recently, we have shown that CLS formation requires a...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0b013e3282f1d2ec

    authors: Vartanian AA,Burova OS,Stepanova EV,Baryshnikov AY,Lichinitser MR

    更新日期:2007-12-01 00:00:00

  • Sublethal radiation damage repair and its inhibition by hyperthermia in two human melanoma cell lines of different radiosensitivities.

    abstract::Two human melanoma tumour cell lines, one radiation resistant and one radiation sensitive, were studied for their capacity for repair of sublethal radiation damage (SLDR) and for hyperthermia inhibition of radiation damage. The most resistant cell line demonstrated a survival curve with a large shoulder and a large SL...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199406000-00003

    authors: Raaphorst GP,Mao JP,Ng CE

    更新日期:1994-06-01 00:00:00

  • Influence of single nucleotide polymorphisms in the MMP1 promoter region on cutaneous melanoma progression.

    abstract::Recently, we reported on the associations of seven single nucleotide polymorphisms (SNPs) in the promoter region of MMP1 gene with susceptibility to cutaneous melanoma (CM). Considering the reported correlation between MMP1 expression and melanoma progression, we hypothesized that these promoter SNPs might affect CM p...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0b013e32834fc46b

    authors: Liu H,Wei Q,Gershenwald JE,Prieto VG,Lee JE,Duvic M,Grimm EA,Wang LE

    更新日期:2012-04-01 00:00:00

  • Differential expression of heat shock protein 105 in melanoma and melanocytic naevi.

    abstract::The objective of this study is to assess the expression of heat shock protein 105 (HSP105) in melanoma and benign melanocytic lesions. The expression of HSP105 in 62 human melanoma samples--46 primary and 16 metastatic lesions--and 42 melanocytic naevi samples, was assessed by immunohistochemistry. Western blotting wa...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/CMR.0b013e3282fe9a16

    authors: Muchemwa FC,Nakatsura T,Fukushima S,Nishimura Y,Kageshita T,Ihn H

    更新日期:2008-06-01 00:00:00

  • Selective in vivo and in vitro incorporation and accumulation of phenolic thioether amine into malignant melanoma and identification of a (58 kD) binding glycoprotein.

    abstract::Our previous in vivo studies indicated that a phenolic thioether amine (PTEA), 4-S-cysteaminylphenol (CAP), selectively disintegrates melanocytes of black hair and skin, and inhibits the growth of murine and human malignant melanomas. To elucidate the mechanism of the in vivo melanocytotoxicity and anti-melanoma effec...

    journal_title:Melanoma research

    pub_type: 杂志文章

    doi:10.1097/00008390-199211000-00002

    authors: Yamada K,Jimbow K

    更新日期:1992-11-01 00:00:00