Multiplex melanoma families are enriched for polygenic risk
Abstract Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-p...
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Veröffentlicht in: | Human molecular genetics 2020-10, Vol.29 (17), p.2976-2985 |
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creator | Law, Matthew H Aoude, Lauren G Duffy, David L Long, Georgina V Johansson, Peter A Pritchard, Antonia L Khosrotehrani, Kiarash Mann, Graham J Montgomery, Grant W Iles, Mark M Cust, Anne E Palmer, Jane M Shannon, Kerwin F Spillane, Andrew J Stretch, Jonathan R Thompson, John F Saw, Robyn P M Scolyer, Richard A Martin, Nicholas G Hayward, Nicholas K MacGregor, Stuart |
description | Abstract
Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants. Known high-penetrance mutations account for only about half of all densely affected cutaneous melanoma families, and the causes of familial clustering in the remainder are unknown. We hypothesize that some clustering is due to the cumulative effect of a large number of variants of individually small effect. Common, low-penetrance genetic risk variants can be combined into polygenic risk scores. We used a polygenic risk score for cutaneous melanoma to compare families without known high-penetrance mutations with unrelated melanoma cases and melanoma-free controls. Family members had significantly higher mean polygenic load for cutaneous melanoma than unrelated cases or melanoma-free healthy controls (Bonferroni-corrected t-test P = 1.5 × 10−5 and 6.3 × 10−45, respectively). Whole genome sequencing of germline DNA from 51 members of 21 families with low polygenic risk for melanoma identified a CDKN2A p.G101W mutation in a single family but no other candidate high-penetrance melanoma susceptibility genes. This work provides further evidence that melanoma, like many other common complex disorders, can arise from the joint action of multiple predisposing factors, including rare high-penetrance mutations, as well as via a combination of large numbers of alleles of small effect. |
doi_str_mv | 10.1093/hmg/ddaa156 |
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Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants. Known high-penetrance mutations account for only about half of all densely affected cutaneous melanoma families, and the causes of familial clustering in the remainder are unknown. We hypothesize that some clustering is due to the cumulative effect of a large number of variants of individually small effect. Common, low-penetrance genetic risk variants can be combined into polygenic risk scores. We used a polygenic risk score for cutaneous melanoma to compare families without known high-penetrance mutations with unrelated melanoma cases and melanoma-free controls. Family members had significantly higher mean polygenic load for cutaneous melanoma than unrelated cases or melanoma-free healthy controls (Bonferroni-corrected t-test P = 1.5 × 10−5 and 6.3 × 10−45, respectively). Whole genome sequencing of germline DNA from 51 members of 21 families with low polygenic risk for melanoma identified a CDKN2A p.G101W mutation in a single family but no other candidate high-penetrance melanoma susceptibility genes. This work provides further evidence that melanoma, like many other common complex disorders, can arise from the joint action of multiple predisposing factors, including rare high-penetrance mutations, as well as via a combination of large numbers of alleles of small effect.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddaa156</identifier><identifier>PMID: 32716505</identifier><language>eng</language><publisher>England: Oxford University Press</publisher><subject>Alleles ; Association Studies ; Cyclin-Dependent Kinase Inhibitor p16 - genetics ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation - genetics ; Humans ; Male ; Melanoma - epidemiology ; Melanoma - genetics ; Melanoma - pathology ; Melanoma, Cutaneous Malignant ; Multifactorial Inheritance - genetics ; Mutation - genetics ; Penetrance ; Skin Neoplasms - epidemiology ; Skin Neoplasms - genetics ; Skin Neoplasms - pathology ; Ultraviolet Rays - adverse effects</subject><ispartof>Human molecular genetics, 2020-10, Vol.29 (17), p.2976-2985</ispartof><rights>The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2020</rights><rights>The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c412t-fc866d8847aaf1ec8c4dfdc2e9be03c9ca7622844f76f5483272bb00c10a4b363</citedby><cites>FETCH-LOGICAL-c412t-fc866d8847aaf1ec8c4dfdc2e9be03c9ca7622844f76f5483272bb00c10a4b363</cites><orcidid>0000-0002-2603-6509 ; 0000-0002-8354-434X ; 0000-0002-2816-2496 ; 0000-0001-5336-0454 ; 0000-0002-2702-522X ; 0000-0003-1448-3923 ; 0000-0002-6406-4076 ; 0000-0001-8538-3132 ; 0000-0001-6731-8142 ; 0000-0001-7015-5452 ; 0000-0002-8991-0013 ; 0000-0002-4140-8139 ; 0000-0002-4303-8821 ; 0000-0002-5331-6370</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,1578,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32716505$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Law, Matthew H</creatorcontrib><creatorcontrib>Aoude, Lauren G</creatorcontrib><creatorcontrib>Duffy, David L</creatorcontrib><creatorcontrib>Long, Georgina V</creatorcontrib><creatorcontrib>Johansson, Peter A</creatorcontrib><creatorcontrib>Pritchard, Antonia L</creatorcontrib><creatorcontrib>Khosrotehrani, Kiarash</creatorcontrib><creatorcontrib>Mann, Graham J</creatorcontrib><creatorcontrib>Montgomery, Grant W</creatorcontrib><creatorcontrib>Iles, Mark M</creatorcontrib><creatorcontrib>Cust, Anne E</creatorcontrib><creatorcontrib>Palmer, Jane M</creatorcontrib><creatorcontrib>Shannon, Kerwin F</creatorcontrib><creatorcontrib>Spillane, Andrew J</creatorcontrib><creatorcontrib>Stretch, Jonathan R</creatorcontrib><creatorcontrib>Thompson, John F</creatorcontrib><creatorcontrib>Saw, Robyn P M</creatorcontrib><creatorcontrib>Scolyer, Richard A</creatorcontrib><creatorcontrib>Martin, Nicholas G</creatorcontrib><creatorcontrib>Hayward, Nicholas K</creatorcontrib><creatorcontrib>MacGregor, Stuart</creatorcontrib><creatorcontrib>Melanoma GWAS Consortium</creatorcontrib><title>Multiplex melanoma families are enriched for polygenic risk</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>Abstract
Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants. Known high-penetrance mutations account for only about half of all densely affected cutaneous melanoma families, and the causes of familial clustering in the remainder are unknown. We hypothesize that some clustering is due to the cumulative effect of a large number of variants of individually small effect. Common, low-penetrance genetic risk variants can be combined into polygenic risk scores. We used a polygenic risk score for cutaneous melanoma to compare families without known high-penetrance mutations with unrelated melanoma cases and melanoma-free controls. Family members had significantly higher mean polygenic load for cutaneous melanoma than unrelated cases or melanoma-free healthy controls (Bonferroni-corrected t-test P = 1.5 × 10−5 and 6.3 × 10−45, respectively). Whole genome sequencing of germline DNA from 51 members of 21 families with low polygenic risk for melanoma identified a CDKN2A p.G101W mutation in a single family but no other candidate high-penetrance melanoma susceptibility genes. This work provides further evidence that melanoma, like many other common complex disorders, can arise from the joint action of multiple predisposing factors, including rare high-penetrance mutations, as well as via a combination of large numbers of alleles of small effect.</description><subject>Alleles</subject><subject>Association Studies</subject><subject>Cyclin-Dependent Kinase Inhibitor p16 - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Germ-Line Mutation - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Melanoma - epidemiology</subject><subject>Melanoma - genetics</subject><subject>Melanoma - pathology</subject><subject>Melanoma, Cutaneous Malignant</subject><subject>Multifactorial Inheritance - genetics</subject><subject>Mutation - genetics</subject><subject>Penetrance</subject><subject>Skin Neoplasms - epidemiology</subject><subject>Skin Neoplasms - genetics</subject><subject>Skin Neoplasms - pathology</subject><subject>Ultraviolet Rays - adverse effects</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>TOX</sourceid><sourceid>EIF</sourceid><recordid>eNp9kE1LwzAYgIMobk5P3iUnL1KXr6YpgjCGXzDxoueQpskWTZuSbOL-vR2bQy-ecnif93nDA8A5RtcYlXS8aObjulYK5_wADDHjKCNI0EMwRCVnGS8RH4CTlN4RwpzR4hgMKCkwz1E-BDfPK790nTdfsDFetaFR0KrGeWcSVNFA00anF6aGNkTYBb-em9ZpGF36OAVHVvlkznbvCLzd371OH7PZy8PTdDLLNMNkmVktOK-FYIVSFhstNKttrYkpK4OoLrUqOCGCMVtwmzPRf45UFUIaI8UqyukI3G693apqTK1Nu4zKyy66RsW1DMrJv5PWLeQ8fMoi55yVG8HVVqBjSCkau9_FSG4ayr6h3DXs6Yvf5_bsT7QeuNwCYdX9a_oGXhJ84g</recordid><startdate>20201010</startdate><enddate>20201010</enddate><creator>Law, Matthew H</creator><creator>Aoude, Lauren G</creator><creator>Duffy, David L</creator><creator>Long, Georgina V</creator><creator>Johansson, Peter A</creator><creator>Pritchard, Antonia L</creator><creator>Khosrotehrani, Kiarash</creator><creator>Mann, Graham J</creator><creator>Montgomery, Grant W</creator><creator>Iles, Mark M</creator><creator>Cust, Anne E</creator><creator>Palmer, Jane M</creator><creator>Shannon, Kerwin F</creator><creator>Spillane, Andrew J</creator><creator>Stretch, Jonathan R</creator><creator>Thompson, John F</creator><creator>Saw, Robyn P M</creator><creator>Scolyer, Richard A</creator><creator>Martin, Nicholas G</creator><creator>Hayward, Nicholas K</creator><creator>MacGregor, Stuart</creator><general>Oxford University Press</general><scope>TOX</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-2603-6509</orcidid><orcidid>https://orcid.org/0000-0002-8354-434X</orcidid><orcidid>https://orcid.org/0000-0002-2816-2496</orcidid><orcidid>https://orcid.org/0000-0001-5336-0454</orcidid><orcidid>https://orcid.org/0000-0002-2702-522X</orcidid><orcidid>https://orcid.org/0000-0003-1448-3923</orcidid><orcidid>https://orcid.org/0000-0002-6406-4076</orcidid><orcidid>https://orcid.org/0000-0001-8538-3132</orcidid><orcidid>https://orcid.org/0000-0001-6731-8142</orcidid><orcidid>https://orcid.org/0000-0001-7015-5452</orcidid><orcidid>https://orcid.org/0000-0002-8991-0013</orcidid><orcidid>https://orcid.org/0000-0002-4140-8139</orcidid><orcidid>https://orcid.org/0000-0002-4303-8821</orcidid><orcidid>https://orcid.org/0000-0002-5331-6370</orcidid></search><sort><creationdate>20201010</creationdate><title>Multiplex melanoma families are enriched for polygenic risk</title><author>Law, Matthew H ; Aoude, Lauren G ; Duffy, David L ; Long, Georgina V ; Johansson, Peter A ; Pritchard, Antonia L ; Khosrotehrani, Kiarash ; Mann, Graham J ; Montgomery, Grant W ; Iles, Mark M ; Cust, Anne E ; Palmer, Jane M ; Shannon, Kerwin F ; Spillane, Andrew J ; Stretch, Jonathan R ; Thompson, John F ; Saw, Robyn P M ; Scolyer, Richard A ; Martin, Nicholas G ; Hayward, Nicholas K ; MacGregor, Stuart</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c412t-fc866d8847aaf1ec8c4dfdc2e9be03c9ca7622844f76f5483272bb00c10a4b363</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Alleles</topic><topic>Association Studies</topic><topic>Cyclin-Dependent Kinase Inhibitor p16 - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Germ-Line Mutation - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Melanoma - epidemiology</topic><topic>Melanoma - genetics</topic><topic>Melanoma - pathology</topic><topic>Melanoma, Cutaneous Malignant</topic><topic>Multifactorial Inheritance - genetics</topic><topic>Mutation - genetics</topic><topic>Penetrance</topic><topic>Skin Neoplasms - epidemiology</topic><topic>Skin Neoplasms - genetics</topic><topic>Skin Neoplasms - pathology</topic><topic>Ultraviolet Rays - adverse effects</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Law, Matthew H</creatorcontrib><creatorcontrib>Aoude, Lauren G</creatorcontrib><creatorcontrib>Duffy, David L</creatorcontrib><creatorcontrib>Long, Georgina V</creatorcontrib><creatorcontrib>Johansson, Peter A</creatorcontrib><creatorcontrib>Pritchard, Antonia L</creatorcontrib><creatorcontrib>Khosrotehrani, Kiarash</creatorcontrib><creatorcontrib>Mann, Graham J</creatorcontrib><creatorcontrib>Montgomery, Grant W</creatorcontrib><creatorcontrib>Iles, Mark M</creatorcontrib><creatorcontrib>Cust, Anne E</creatorcontrib><creatorcontrib>Palmer, Jane M</creatorcontrib><creatorcontrib>Shannon, Kerwin F</creatorcontrib><creatorcontrib>Spillane, Andrew J</creatorcontrib><creatorcontrib>Stretch, Jonathan R</creatorcontrib><creatorcontrib>Thompson, John F</creatorcontrib><creatorcontrib>Saw, Robyn P M</creatorcontrib><creatorcontrib>Scolyer, Richard A</creatorcontrib><creatorcontrib>Martin, Nicholas G</creatorcontrib><creatorcontrib>Hayward, Nicholas K</creatorcontrib><creatorcontrib>MacGregor, Stuart</creatorcontrib><creatorcontrib>Melanoma GWAS Consortium</creatorcontrib><collection>Oxford Journals Open Access Collection</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Law, Matthew H</au><au>Aoude, Lauren G</au><au>Duffy, David L</au><au>Long, Georgina V</au><au>Johansson, Peter A</au><au>Pritchard, Antonia L</au><au>Khosrotehrani, Kiarash</au><au>Mann, Graham J</au><au>Montgomery, Grant W</au><au>Iles, Mark M</au><au>Cust, Anne E</au><au>Palmer, Jane M</au><au>Shannon, Kerwin F</au><au>Spillane, Andrew J</au><au>Stretch, Jonathan R</au><au>Thompson, John F</au><au>Saw, Robyn P M</au><au>Scolyer, Richard A</au><au>Martin, Nicholas G</au><au>Hayward, Nicholas K</au><au>MacGregor, Stuart</au><aucorp>Melanoma GWAS Consortium</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multiplex melanoma families are enriched for polygenic risk</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2020-10-10</date><risdate>2020</risdate><volume>29</volume><issue>17</issue><spage>2976</spage><epage>2985</epage><pages>2976-2985</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>Abstract
Cancers, including cutaneous melanoma, can cluster in families. In addition to environmental etiological factors such as ultraviolet radiation, cutaneous melanoma has a strong genetic component. Genetic risks for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants. Known high-penetrance mutations account for only about half of all densely affected cutaneous melanoma families, and the causes of familial clustering in the remainder are unknown. We hypothesize that some clustering is due to the cumulative effect of a large number of variants of individually small effect. Common, low-penetrance genetic risk variants can be combined into polygenic risk scores. We used a polygenic risk score for cutaneous melanoma to compare families without known high-penetrance mutations with unrelated melanoma cases and melanoma-free controls. Family members had significantly higher mean polygenic load for cutaneous melanoma than unrelated cases or melanoma-free healthy controls (Bonferroni-corrected t-test P = 1.5 × 10−5 and 6.3 × 10−45, respectively). Whole genome sequencing of germline DNA from 51 members of 21 families with low polygenic risk for melanoma identified a CDKN2A p.G101W mutation in a single family but no other candidate high-penetrance melanoma susceptibility genes. This work provides further evidence that melanoma, like many other common complex disorders, can arise from the joint action of multiple predisposing factors, including rare high-penetrance mutations, as well as via a combination of large numbers of alleles of small effect.</abstract><cop>England</cop><pub>Oxford University Press</pub><pmid>32716505</pmid><doi>10.1093/hmg/ddaa156</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0002-2603-6509</orcidid><orcidid>https://orcid.org/0000-0002-8354-434X</orcidid><orcidid>https://orcid.org/0000-0002-2816-2496</orcidid><orcidid>https://orcid.org/0000-0001-5336-0454</orcidid><orcidid>https://orcid.org/0000-0002-2702-522X</orcidid><orcidid>https://orcid.org/0000-0003-1448-3923</orcidid><orcidid>https://orcid.org/0000-0002-6406-4076</orcidid><orcidid>https://orcid.org/0000-0001-8538-3132</orcidid><orcidid>https://orcid.org/0000-0001-6731-8142</orcidid><orcidid>https://orcid.org/0000-0001-7015-5452</orcidid><orcidid>https://orcid.org/0000-0002-8991-0013</orcidid><orcidid>https://orcid.org/0000-0002-4140-8139</orcidid><orcidid>https://orcid.org/0000-0002-4303-8821</orcidid><orcidid>https://orcid.org/0000-0002-5331-6370</orcidid><oa>free_for_read</oa></addata></record> |
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source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
subjects | Alleles Association Studies Cyclin-Dependent Kinase Inhibitor p16 - genetics Female Genetic Predisposition to Disease Germ-Line Mutation - genetics Humans Male Melanoma - epidemiology Melanoma - genetics Melanoma - pathology Melanoma, Cutaneous Malignant Multifactorial Inheritance - genetics Mutation - genetics Penetrance Skin Neoplasms - epidemiology Skin Neoplasms - genetics Skin Neoplasms - pathology Ultraviolet Rays - adverse effects |
title | Multiplex melanoma families are enriched for polygenic risk |
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