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Selection criteria for genetic assessment of patients with familial melanoma

Identifieur interne : 008101 ( Main/Exploration ); précédent : 008100; suivant : 008102

Selection criteria for genetic assessment of patients with familial melanoma

Auteurs : Sancy A. Leachman [États-Unis] ; John Carucci [États-Unis] ; Wendy Kohlmann [États-Unis] ; Kimberly C. Banks [États-Unis] ; Maryam M. Asgari [États-Unis] ; Wilma Bergman [Pays-Bas] ; Giovanna Bianchi-Scarra [Italie] ; Teresa Brentnall [États-Unis] ; Brigitte Bressac-De Paillerets [France] ; William Bruno [Italie] ; Clara Curiel-Lewandrowski [États-Unis] ; Femke A. De Snoo [Pays-Bas] ; Tadeusz Debniak [Pologne] ; Marie-France Demierre [États-Unis] ; David Elder [États-Unis] ; Alisa M. Goldstein [États-Unis] ; Jane Grant-Kels [États-Unis] ; Allan C. Halpern [États-Unis] ; Christian Ingvar [Suède] ; Richard E. Kefford [Australie] ; Julie Lang [Royaume-Uni] ; Rona M. Mackie [Royaume-Uni] ; Graham J. Mann [Australie] ; Kurt Mueller [États-Unis] ; Julia Newton-Bishop [Royaume-Uni] ; Hakan Olsson [Suède] ; Gloria M. Petersen ; Susana Puig ; Darrell Rigel ; Susan M. Swetter ; Margaret A. Tucker [États-Unis] ; Emanuel Yakobson ; John A. Zitelli ; Hensin Tsao

Source :

RBID : Pascal:09-0432270

Descripteurs français

English descriptors

Abstract

Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, we have reviewed available published studies of CDKN2A mutation analysis in cohorts with invasive, cutaneous melanoma and found variability in the rate of CDKN2A mutations based on geography, ethnicity, and the type of study and eligibility criteria used. Except in regions of high melanoma incidence, such as Australia, we found higher rates of CDKN2A positivity in individuals with 3 or more primary invasive melanomas and/or families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma and/or pancreatic cancer among first- or second-degree relatives on the same side of the family. The work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing.


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Le document en format XML

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<title xml:lang="en" level="a">Selection criteria for genetic assessment of patients with familial melanoma</title>
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</author>
<author>
<name sortKey="Asgari, Maryam M" sort="Asgari, Maryam M" uniqKey="Asgari M" first="Maryam M." last="Asgari">Maryam M. Asgari</name>
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<inist:fA14 i1="04">
<s1>Division of Research, Kaiser Permanente Northern California</s1>
<s2>Oakland</s2>
<s3>USA</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Oakland</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Dermatology and Clinical Genetics, Leiden University Medical Center</s1>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Department of Dermatology and Clinical Genetics, Leiden University Medical Center</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bianchi Scarra, Giovanna" sort="Bianchi Scarra, Giovanna" uniqKey="Bianchi Scarra G" first="Giovanna" last="Bianchi-Scarra">Giovanna Bianchi-Scarra</name>
<affiliation wicri:level="1">
<inist:fA14 i1="06">
<s1>Department of Oncology Biology and Genetics/Medical Genetica Service, University of Genoa</s1>
<s3>ITA</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Oncology Biology and Genetics/Medical Genetica Service, University of Genoa</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Brentnall, Teresa" sort="Brentnall, Teresa" uniqKey="Brentnall T" first="Teresa" last="Brentnall">Teresa Brentnall</name>
<affiliation wicri:level="4">
<inist:fA14 i1="07">
<s1>Department of Medicine, University of Washington</s1>
<s3>USA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<settlement type="city">Seattle</settlement>
<region type="state">Washington (État)</region>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author>
<name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name>
<affiliation wicri:level="1">
<inist:fA14 i1="08">
<s1>Service de Génétique et Centre National de al Recherche Scientific France-2939 "Génomes and Cancer," Institut de Cancérologie Gustave Roussy</s1>
<s2>Villejuif</s2>
<s3>FRA</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>Villejuif</wicri:noRegion>
<wicri:noRegion>" Institut de Cancérologie Gustave Roussy</wicri:noRegion>
<wicri:noRegion>Villejuif</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bruno, William" sort="Bruno, William" uniqKey="Bruno W" first="William" last="Bruno">William Bruno</name>
<affiliation wicri:level="1">
<inist:fA14 i1="06">
<s1>Department of Oncology Biology and Genetics/Medical Genetica Service, University of Genoa</s1>
<s3>ITA</s3>
<sZ>7 aut.</sZ>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>Department of Oncology Biology and Genetics/Medical Genetica Service, University of Genoa</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Curiel Lewandrowski, Clara" sort="Curiel Lewandrowski, Clara" uniqKey="Curiel Lewandrowski C" first="Clara" last="Curiel-Lewandrowski">Clara Curiel-Lewandrowski</name>
<affiliation wicri:level="1">
<inist:fA14 i1="09">
<s1>Arizona Cancer Center, Section of Dermatology, University of Arizona</s1>
<s3>USA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Arizona Cancer Center, Section of Dermatology, University of Arizona</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="De Snoo, Femke A" sort="De Snoo, Femke A" uniqKey="De Snoo F" first="Femke A." last="De Snoo">Femke A. De Snoo</name>
<affiliation wicri:level="1">
<inist:fA14 i1="05">
<s1>Department of Dermatology and Clinical Genetics, Leiden University Medical Center</s1>
<s3>NLD</s3>
<sZ>6 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Pays-Bas</country>
<wicri:noRegion>Department of Dermatology and Clinical Genetics, Leiden University Medical Center</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Debniak, Tadeusz" sort="Debniak, Tadeusz" uniqKey="Debniak T" first="Tadeusz" last="Debniak">Tadeusz Debniak</name>
<affiliation wicri:level="1">
<inist:fA14 i1="10">
<s1>Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University</s1>
<s2>Szczecin</s2>
<s3>POL</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Pologne</country>
<wicri:noRegion>Szczecin</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Demierre, Marie France" sort="Demierre, Marie France" uniqKey="Demierre M" first="Marie-France" last="Demierre">Marie-France Demierre</name>
<affiliation wicri:level="1">
<inist:fA14 i1="11">
<s1>Department of Dermatology, Boston University School of Medicine</s1>
<s3>USA</s3>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Department of Dermatology, Boston University School of Medicine</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Elder, David" sort="Elder, David" uniqKey="Elder D" first="David" last="Elder">David Elder</name>
<affiliation wicri:level="3">
<inist:fA14 i1="12">
<s1>Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania</s1>
<s2>Philadelphia</s2>
<s3>USA</s3>
<sZ>15 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<settlement type="city">Philadelphie</settlement>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M." last="Goldstein">Alisa M. Goldstein</name>
<affiliation wicri:level="1">
<inist:fA14 i1="13">
<s1>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services</s1>
<s2>Bethesda</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Grant Kels, Jane" sort="Grant Kels, Jane" uniqKey="Grant Kels J" first="Jane" last="Grant-Kels">Jane Grant-Kels</name>
<affiliation wicri:level="1">
<inist:fA14 i1="14">
<s1>Department of Dermatology, University of Connecticut Health Center</s1>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Department of Dermatology, University of Connecticut Health Center</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Halpern, Allan C" sort="Halpern, Allan C" uniqKey="Halpern A" first="Allan C." last="Halpern">Allan C. Halpern</name>
<affiliation wicri:level="2">
<inist:fA14 i1="15">
<s1>Dermatology Service, Memorial Sloan-Kettering Cancer Center</s1>
<s2>New York</s2>
<s3>USA</s3>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName>
<region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ingvar, Christian" sort="Ingvar, Christian" uniqKey="Ingvar C" first="Christian" last="Ingvar">Christian Ingvar</name>
<affiliation wicri:level="1">
<inist:fA14 i1="16">
<s1>Department of Surgery, Lund University Hospital</s1>
<s3>SWE</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Suède</country>
<wicri:noRegion>Department of Surgery, Lund University Hospital</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Kefford, Richard E" sort="Kefford, Richard E" uniqKey="Kefford R" first="Richard E." last="Kefford">Richard E. Kefford</name>
<affiliation wicri:level="1">
<inist:fA14 i1="18">
<s1>Westmead Institute for Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute</s1>
<s3>AUS</s3>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Westmead Institute for Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name>
<affiliation wicri:level="1">
<inist:fA14 i1="19">
<s1>Duncan Guthrie Institute of Medical Genetics</s1>
<s2>Glasgow</s2>
<s3>GBR</s3>
<sZ>21 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Duncan Guthrie Institute of Medical Genetics</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M." last="Mackie">Rona M. Mackie</name>
<affiliation wicri:level="4">
<inist:fA14 i1="20">
<s1>Departments of Public Health and Health Policy and Medical Genetics, University of Glasgow</s1>
<s3>GBR</s3>
<sZ>22 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName>
<settlement type="city">Glasgow</settlement>
<region type="country">Écosse</region>
</placeName>
<orgName type="university">Université de Glasgow</orgName>
</affiliation>
</author>
<author>
<name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J." last="Mann">Graham J. Mann</name>
<affiliation wicri:level="1">
<inist:fA14 i1="18">
<s1>Westmead Institute for Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute</s1>
<s3>AUS</s3>
<sZ>20 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Westmead Institute for Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Mueller, Kurt" sort="Mueller, Kurt" uniqKey="Mueller K" first="Kurt" last="Mueller">Kurt Mueller</name>
<affiliation wicri:level="1">
<inist:fA14 i1="21">
<s1>Department of Dermatology, Gundersen Lutheran Medical Center</s1>
<s2>La Crosse</s2>
<s3>USA</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>La Crosse</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Newton Bishop, Julia" sort="Newton Bishop, Julia" uniqKey="Newton Bishop J" first="Julia" last="Newton-Bishop">Julia Newton-Bishop</name>
<affiliation wicri:level="4">
<inist:fA14 i1="22">
<s1>Division of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds</s1>
<s3>GBR</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName>
<settlement type="city">Leeds</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Yorkshire-et-Humber</region>
</placeName>
<orgName type="university">Université de Leeds</orgName>
</affiliation>
</author>
<author>
<name sortKey="Olsson, Hakan" sort="Olsson, Hakan" uniqKey="Olsson H" first="Hakan" last="Olsson">Hakan Olsson</name>
<affiliation wicri:level="1">
<inist:fA14 i1="17">
<s1>Department of Oncology and Cancer Epidemiology, Lund University Hospital</s1>
<s3>SWE</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>Suède</country>
<wicri:noRegion>Department of Oncology and Cancer Epidemiology, Lund University Hospital</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Petersen, Gloria M" sort="Petersen, Gloria M" uniqKey="Petersen G" first="Gloria M." last="Petersen">Gloria M. Petersen</name>
</author>
<author>
<name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name>
</author>
<author>
<name sortKey="Rigel, Darrell" sort="Rigel, Darrell" uniqKey="Rigel D" first="Darrell" last="Rigel">Darrell Rigel</name>
</author>
<author>
<name sortKey="Swetter, Susan M" sort="Swetter, Susan M" uniqKey="Swetter S" first="Susan M." last="Swetter">Susan M. Swetter</name>
</author>
<author>
<name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A." last="Tucker">Margaret A. Tucker</name>
<affiliation wicri:level="1">
<inist:fA14 i1="13">
<s1>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services</s1>
<s2>Bethesda</s2>
<s3>USA</s3>
<sZ>16 aut.</sZ>
<sZ>31 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Yakobson, Emanuel" sort="Yakobson, Emanuel" uniqKey="Yakobson E" first="Emanuel" last="Yakobson">Emanuel Yakobson</name>
</author>
<author>
<name sortKey="Zitelli, John A" sort="Zitelli, John A" uniqKey="Zitelli J" first="John A." last="Zitelli">John A. Zitelli</name>
</author>
<author>
<name sortKey="Tsao, Hensin" sort="Tsao, Hensin" uniqKey="Tsao H" first="Hensin" last="Tsao">Hensin Tsao</name>
</author>
</analytic>
<series>
<title level="j" type="main">Journal of the American Academy of Dermatology</title>
<title level="j" type="abbreviated">J. Am. Acad. Dermatol.</title>
<idno type="ISSN">0190-9622</idno>
<imprint>
<date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Journal of the American Academy of Dermatology</title>
<title level="j" type="abbreviated">J. Am. Acad. Dermatol.</title>
<idno type="ISSN">0190-9622</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Dermatology</term>
<term>Human</term>
<term>Malignant melanoma</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Mélanome malin</term>
<term>Dermatologie</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Approximately 5% to 10% of melanoma may be hereditary in nature, and about 2% of melanoma can be specifically attributed to pathogenic germline mutations in cyclin-dependent kinase inhibitor 2A (CDKN2A). To appropriately identify the small proportion of patients who benefit most from referral to a genetics specialist for consideration of genetic testing for CDKN2A, we have reviewed available published studies of CDKN2A mutation analysis in cohorts with invasive, cutaneous melanoma and found variability in the rate of CDKN2A mutations based on geography, ethnicity, and the type of study and eligibility criteria used. Except in regions of high melanoma incidence, such as Australia, we found higher rates of CDKN2A positivity in individuals with 3 or more primary invasive melanomas and/or families with at least one invasive melanoma and two or more other diagnoses of invasive melanoma and/or pancreatic cancer among first- or second-degree relatives on the same side of the family. The work summarized in this review should help identify individuals who are appropriate candidates for referral for genetic consultation and possible testing.</div>
</front>
</TEI>
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<li>Australie</li>
<li>France</li>
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<li>Suède</li>
<li>États-Unis</li>
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<li>Angleterre</li>
<li>Pennsylvanie</li>
<li>Washington (État)</li>
<li>Yorkshire-et-Humber</li>
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<name sortKey="Bianchi Scarra, Giovanna" sort="Bianchi Scarra, Giovanna" uniqKey="Bianchi Scarra G" first="Giovanna" last="Bianchi-Scarra">Giovanna Bianchi-Scarra</name>
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<name sortKey="Bruno, William" sort="Bruno, William" uniqKey="Bruno W" first="William" last="Bruno">William Bruno</name>
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<name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name>
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<name sortKey="Debniak, Tadeusz" sort="Debniak, Tadeusz" uniqKey="Debniak T" first="Tadeusz" last="Debniak">Tadeusz Debniak</name>
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<name sortKey="Ingvar, Christian" sort="Ingvar, Christian" uniqKey="Ingvar C" first="Christian" last="Ingvar">Christian Ingvar</name>
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<name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name>
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<name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M." last="Mackie">Rona M. Mackie</name>
<name sortKey="Newton Bishop, Julia" sort="Newton Bishop, Julia" uniqKey="Newton Bishop J" first="Julia" last="Newton-Bishop">Julia Newton-Bishop</name>
</country>
</tree>
</affiliations>
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