Genetic predisposition to in situ and invasive lobular carcinoma of the breast.
Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2014-04-01
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| Series: | PLoS Genetics |
| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24743323/?tool=EBI |
| _version_ | 1818841070912405504 |
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| author | Elinor Sawyer Rebecca Roylance Christos Petridis Mark N Brook Salpie Nowinski Efterpi Papouli Olivia Fletcher Sarah Pinder Andrew Hanby Kelly Kohut Patricia Gorman Michele Caneppele Julian Peto Isabel Dos Santos Silva Nichola Johnson Ruth Swann Miriam Dwek Katherine-Anne Perkins Cheryl Gillett Richard Houlston Gillian Ross Paolo De Ieso Melissa C Southey John L Hopper Elena Provenzano Carmel Apicella Jelle Wesseling Sten Cornelissen Renske Keeman Peter A Fasching Sebastian M Jud Arif B Ekici Matthias W Beckmann Michael J Kerin Federick Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Therese Truong Pierre Laurent-Puig Pierre Kerbrat Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne Jose Ignacio Arias Perez Primitiva Menéndez Javier Benitez Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K Schmutzler Magdalena Lochmann Hiltrud Brauch Hans-Peter Fischer Yon-Dschun Ko GENICA Network Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench KConFab Investigators Diether Lambrechts Caroline Weltens Erik Van Limbergen Sigrid Hatse Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Sara Volorio Graham G Giles Gianluca Severi Laura Baglietto Catriona A McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Vessela Kristensen Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Peter Devillee Rob A E M Tollenaar Caroline M Seynaeve Mieke Kriege Jonine Figueroa Stephen J Chanock Mark E Sherman Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Carolien H M van Deurzen Jingmei Li Kamila Czene Keith Humphreys Angela Cox Simon S Cross Malcolm W R Reed Mitul Shah Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Anthony Swerdlow Alan Ashworth Nicholas Orr Minouk Schoemaker Fergus J Couch Emily Hallberg Anna González-Neira Guillermo Pita M Rosario Alonso Daniel C Tessier Daniel Vincent Francois Bacot Manjeet K Bolla Qin Wang Joe Dennis Kyriaki Michailidou Alison M Dunning Per Hall Doug Easton Paul Pharoah Marjanka K Schmidt Ian Tomlinson Montserrat Garcia-Closas |
| author_facet | Elinor Sawyer Rebecca Roylance Christos Petridis Mark N Brook Salpie Nowinski Efterpi Papouli Olivia Fletcher Sarah Pinder Andrew Hanby Kelly Kohut Patricia Gorman Michele Caneppele Julian Peto Isabel Dos Santos Silva Nichola Johnson Ruth Swann Miriam Dwek Katherine-Anne Perkins Cheryl Gillett Richard Houlston Gillian Ross Paolo De Ieso Melissa C Southey John L Hopper Elena Provenzano Carmel Apicella Jelle Wesseling Sten Cornelissen Renske Keeman Peter A Fasching Sebastian M Jud Arif B Ekici Matthias W Beckmann Michael J Kerin Federick Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Therese Truong Pierre Laurent-Puig Pierre Kerbrat Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne Jose Ignacio Arias Perez Primitiva Menéndez Javier Benitez Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K Schmutzler Magdalena Lochmann Hiltrud Brauch Hans-Peter Fischer Yon-Dschun Ko GENICA Network Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench KConFab Investigators Diether Lambrechts Caroline Weltens Erik Van Limbergen Sigrid Hatse Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Sara Volorio Graham G Giles Gianluca Severi Laura Baglietto Catriona A McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Vessela Kristensen Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Peter Devillee Rob A E M Tollenaar Caroline M Seynaeve Mieke Kriege Jonine Figueroa Stephen J Chanock Mark E Sherman Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Carolien H M van Deurzen Jingmei Li Kamila Czene Keith Humphreys Angela Cox Simon S Cross Malcolm W R Reed Mitul Shah Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Anthony Swerdlow Alan Ashworth Nicholas Orr Minouk Schoemaker Fergus J Couch Emily Hallberg Anna González-Neira Guillermo Pita M Rosario Alonso Daniel C Tessier Daniel Vincent Francois Bacot Manjeet K Bolla Qin Wang Joe Dennis Kyriaki Michailidou Alison M Dunning Per Hall Doug Easton Paul Pharoah Marjanka K Schmidt Ian Tomlinson Montserrat Garcia-Closas |
| author_sort | Elinor Sawyer |
| collection | DOAJ |
| description | Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09-1.18), P = 6.0 × 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 × 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but distinct etiological pathways within ER+ breast cancer between morphological subtypes. |
| first_indexed | 2024-12-19T04:20:14Z |
| format | Article |
| id | doaj.art-c3e1533a163941d7b1a111cfdf7c2b0b |
| institution | Directory Open Access Journal |
| issn | 1553-7390 1553-7404 |
| language | English |
| last_indexed | 2024-12-19T04:20:14Z |
| publishDate | 2014-04-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj.art-c3e1533a163941d7b1a111cfdf7c2b0b2022-12-21T20:36:10ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042014-04-01104e100428510.1371/journal.pgen.1004285Genetic predisposition to in situ and invasive lobular carcinoma of the breast.Elinor SawyerRebecca RoylanceChristos PetridisMark N BrookSalpie NowinskiEfterpi PapouliOlivia FletcherSarah PinderAndrew HanbyKelly KohutPatricia GormanMichele CaneppeleJulian PetoIsabel Dos Santos SilvaNichola JohnsonRuth SwannMiriam DwekKatherine-Anne PerkinsCheryl GillettRichard HoulstonGillian RossPaolo De IesoMelissa C SoutheyJohn L HopperElena ProvenzanoCarmel ApicellaJelle WesselingSten CornelissenRenske KeemanPeter A FaschingSebastian M JudArif B EkiciMatthias W BeckmannMichael J KerinFederick MarmeAndreas SchneeweissChristof SohnBarbara BurwinkelPascal GuénelTherese TruongPierre Laurent-PuigPierre KerbratStig E BojesenBørge G NordestgaardSune F NielsenHenrik FlygerRoger L MilneJose Ignacio Arias PerezPrimitiva MenéndezJavier BenitezHermann BrennerAida Karina DieffenbachVolker ArndtChrista StegmaierAlfons MeindlPeter LichtnerRita K SchmutzlerMagdalena LochmannHiltrud BrauchHans-Peter FischerYon-Dschun KoGENICA NetworkHeli NevanlinnaTaru A MuranenKristiina AittomäkiCarl BlomqvistNatalia V BogdanovaThilo DörkAnnika LindblomSara MargolinArto MannermaaVesa KatajaVeli-Matti KosmaJaana M HartikainenGeorgia Chenevix-TrenchKConFab InvestigatorsDiether LambrechtsCaroline WeltensErik Van LimbergenSigrid HatseJenny Chang-ClaudeAnja RudolphPetra SeiboldDieter Flesch-JanysPaolo RadicePaolo PeterlongoBernardo BonanniSara VolorioGraham G GilesGianluca SeveriLaura BagliettoCatriona A McLeanChristopher A HaimanBrian E HendersonFredrick SchumacherLoic Le MarchandJacques SimardMark S GoldbergFrance LabrècheMartine DumontVessela KristensenRobert WinqvistKatri PylkäsArja Jukkola-VuorinenSaila KauppilaIrene L AndrulisJulia A KnightGord GlendonAnna Marie MulliganPeter DevilleeRob A E M TollenaarCaroline M SeynaeveMieke KriegeJonine FigueroaStephen J ChanockMark E ShermanMaartje J HooningAntoinette HollestelleAns M W van den OuwelandCarolien H M van DeurzenJingmei LiKamila CzeneKeith HumphreysAngela CoxSimon S CrossMalcolm W R ReedMitul ShahAnna JakubowskaJan LubinskiKatarzyna Jaworska-BieniekKatarzyna DurdaAnthony SwerdlowAlan AshworthNicholas OrrMinouk SchoemakerFergus J CouchEmily HallbergAnna González-NeiraGuillermo PitaM Rosario AlonsoDaniel C TessierDaniel VincentFrancois BacotManjeet K BollaQin WangJoe DennisKyriaki MichailidouAlison M DunningPer HallDoug EastonPaul PharoahMarjanka K SchmidtIan TomlinsonMontserrat Garcia-ClosasInvasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09-1.18), P = 6.0 × 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 × 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but distinct etiological pathways within ER+ breast cancer between morphological subtypes.https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24743323/?tool=EBI |
| spellingShingle | Elinor Sawyer Rebecca Roylance Christos Petridis Mark N Brook Salpie Nowinski Efterpi Papouli Olivia Fletcher Sarah Pinder Andrew Hanby Kelly Kohut Patricia Gorman Michele Caneppele Julian Peto Isabel Dos Santos Silva Nichola Johnson Ruth Swann Miriam Dwek Katherine-Anne Perkins Cheryl Gillett Richard Houlston Gillian Ross Paolo De Ieso Melissa C Southey John L Hopper Elena Provenzano Carmel Apicella Jelle Wesseling Sten Cornelissen Renske Keeman Peter A Fasching Sebastian M Jud Arif B Ekici Matthias W Beckmann Michael J Kerin Federick Marme Andreas Schneeweiss Christof Sohn Barbara Burwinkel Pascal Guénel Therese Truong Pierre Laurent-Puig Pierre Kerbrat Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Roger L Milne Jose Ignacio Arias Perez Primitiva Menéndez Javier Benitez Hermann Brenner Aida Karina Dieffenbach Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K Schmutzler Magdalena Lochmann Hiltrud Brauch Hans-Peter Fischer Yon-Dschun Ko GENICA Network Heli Nevanlinna Taru A Muranen Kristiina Aittomäki Carl Blomqvist Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Georgia Chenevix-Trench KConFab Investigators Diether Lambrechts Caroline Weltens Erik Van Limbergen Sigrid Hatse Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Sara Volorio Graham G Giles Gianluca Severi Laura Baglietto Catriona A McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Jacques Simard Mark S Goldberg France Labrèche Martine Dumont Vessela Kristensen Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Saila Kauppila Irene L Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Peter Devillee Rob A E M Tollenaar Caroline M Seynaeve Mieke Kriege Jonine Figueroa Stephen J Chanock Mark E Sherman Maartje J Hooning Antoinette Hollestelle Ans M W van den Ouweland Carolien H M van Deurzen Jingmei Li Kamila Czene Keith Humphreys Angela Cox Simon S Cross Malcolm W R Reed Mitul Shah Anna Jakubowska Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Anthony Swerdlow Alan Ashworth Nicholas Orr Minouk Schoemaker Fergus J Couch Emily Hallberg Anna González-Neira Guillermo Pita M Rosario Alonso Daniel C Tessier Daniel Vincent Francois Bacot Manjeet K Bolla Qin Wang Joe Dennis Kyriaki Michailidou Alison M Dunning Per Hall Doug Easton Paul Pharoah Marjanka K Schmidt Ian Tomlinson Montserrat Garcia-Closas Genetic predisposition to in situ and invasive lobular carcinoma of the breast. PLoS Genetics |
| title | Genetic predisposition to in situ and invasive lobular carcinoma of the breast. |
| title_full | Genetic predisposition to in situ and invasive lobular carcinoma of the breast. |
| title_fullStr | Genetic predisposition to in situ and invasive lobular carcinoma of the breast. |
| title_full_unstemmed | Genetic predisposition to in situ and invasive lobular carcinoma of the breast. |
| title_short | Genetic predisposition to in situ and invasive lobular carcinoma of the breast. |
| title_sort | genetic predisposition to in situ and invasive lobular carcinoma of the breast |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24743323/?tool=EBI |
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