Literature DB >> 25862352

Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures.

Jennifer Stone1, Deborah J Thompson2, Isabel Dos Santos Silva3, Christopher Scott4, Rulla M Tamimi5, Sara Lindstrom6, Peter Kraft7, Aditi Hazra8, Jingmei Li9, Louise Eriksson10, Kamila Czene10, Per Hall10, Matt Jensen4, Julie Cunningham11, Janet E Olson12, Kristen Purrington13, Fergus J Couch14, Judith Brown2, Jean Leyland2, Ruth M L Warren15, Robert N Luben16, Kay-Tee Khaw17, Paula Smith18, Nicholas J Wareham19, Sebastian M Jud20, Katharina Heusinger20, Matthias W Beckmann20, Julie A Douglas21, Kaanan P Shah21, Heang-Ping Chan22, Mark A Helvie22, Loic Le Marchand23, Laurence N Kolonel23, Christy Woolcott24, Gertraud Maskarinec23, Christopher Haiman25, Graham G Giles26, Laura Baglietto27, Kavitha Krishnan28, Melissa C Southey29, Carmel Apicella28, Irene L Andrulis30, Julia A Knight31, Giske Ursin32, Grethe I Grenaker Alnaes33, Vessela N Kristensen33, Anne-Lise Borresen-Dale33, Inger Torhild Gram34, Manjeet K Bolla2, Qin Wang34, Kyriaki Michailidou2, Joe Dennis2, Jacques Simard35, Paul Pharoah36, Alison M Dunning37, Douglas F Easton36, Peter A Fasching38, V Shane Pankratz4, John L Hopper28, Celine M Vachon39.   

Abstract

Mammographic density measures adjusted for age and body mass index (BMI) are heritable predictors of breast cancer risk, but few mammographic density-associated genetic variants have been identified. Using data for 10,727 women from two international consortia, we estimated associations between 77 common breast cancer susceptibility variants and absolute dense area, percent dense area and absolute nondense area adjusted for study, age, and BMI using mixed linear modeling. We found strong support for established associations between rs10995190 (in the region of ZNF365), rs2046210 (ESR1), and rs3817198 (LSP1) and adjusted absolute and percent dense areas (all P < 10(-5)). Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1432679 (EBF1), rs17817449 (MIR1972-2: FTO), rs12710696 (2p24.1), and rs3757318 (ESR1) and adjusted absolute and percent dense areas, respectively. There were associations between rs6001930 (MKL1) and both adjusted absolute dense and nondense areas, and between rs17356907 (NTN4) and adjusted absolute nondense area. Trends in all but two associations were consistent with those for breast cancer risk. Results suggested that 18% of breast cancer susceptibility variants were associated with at least one mammographic density measure. Genetic variants at multiple loci were associated with both breast cancer risk and the mammographic density measures. Further understanding of the underlying mechanisms at these loci could help identify etiologic pathways implicated in how mammographic density predicts breast cancer risk. ©2015 American Association for Cancer Research.

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Year:  2015        PMID: 25862352      PMCID: PMC4470785          DOI: 10.1158/0008-5472.CAN-14-2012

Source DB:  PubMed          Journal:  Cancer Res        ISSN: 0008-5472            Impact factor:   12.701


  47 in total

1.  The Melbourne Collaborative Cohort Study.

Authors:  G G Giles; D R English
Journal:  IARC Sci Publ       Date:  2002

2.  Inference about causation from examination of familial confounding: application to longitudinal twin data on mammographic density measures that predict breast cancer risk.

Authors:  Jennifer Stone; Gillian S Dite; Graham G Giles; Jennifer Cawson; Dallas R English; John L Hopper
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2012-04-26       Impact factor: 4.254

3.  CD36 repression activates a multicellular stromal program shared by high mammographic density and tumor tissues.

Authors:  Rosa Anna DeFilippis; Hang Chang; Nancy Dumont; Joseph T Rabban; Yunn-Yi Chen; Gerald V Fontenay; Hal K Berman; Mona L Gauthier; Jianxin Zhao; Donglei Hu; James J Marx; Judy A Tjoe; Elad Ziv; Maria Febbraio; Karla Kerlikowske; Bahram Parvin; Thea D Tlsty
Journal:  Cancer Discov       Date:  2012-07-09       Impact factor: 39.397

4.  Estimating the proportion of treatment effect explained by a surrogate marker.

Authors:  D Y Lin; T R Fleming; V De Gruttola
Journal:  Stat Med       Date:  1997-07-15       Impact factor: 2.373

5.  Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk.

Authors:  Celine M Vachon; Christopher G Scott; Peter A Fasching; Per Hall; Rulla M Tamimi; Jingmei Li; Jennifer Stone; Carmel Apicella; Fabrice Odefrey; Gretchen L Gierach; Sebastian M Jud; Katharina Heusinger; Matthias W Beckmann; Marina Pollan; Pablo Fernández-Navarro; Anna Gonzalez-Neira; Javier Benitez; Carla H van Gils; Mariëtte Lokate; N Charlotte Onland-Moret; Petra H M Peeters; Judith Brown; Jean Leyland; Jajini S Varghese; Douglas F Easton; Deborah J Thompson; Robert N Luben; Ruth M L Warren; Nicholas J Wareham; Ruth J F Loos; Kay-Tee Khaw; Giske Ursin; Eunjung Lee; Simon A Gayther; Susan J Ramus; Rosalind A Eeles; Martin O Leach; Gek Kwan-Lim; Fergus J Couch; Graham G Giles; Laura Baglietto; Kavitha Krishnan; Melissa C Southey; Loic Le Marchand; Laurence N Kolonel; Christy Woolcott; Gertraud Maskarinec; Christopher A Haiman; Kate Walker; Nichola Johnson; Valeria A McCormack; Margarethe Biong; Grethe I G Alnaes; Inger Torhild Gram; Vessela N Kristensen; Anne-Lise Børresen-Dale; Sara Lindström; Susan E Hankinson; David J Hunter; Irene L Andrulis; Julia A Knight; Norman F Boyd; Jonine D Figuero; Jolanta Lissowska; Ewa Wesolowska; Beata Peplonska; Agnieszka Bukowska; Edyta Reszka; JianJun Liu; Louise Eriksson; Kamila Czene; Tina Audley; Anna H Wu; V Shane Pankratz; John L Hopper; Isabel dos-Santos-Silva
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2012-03-27       Impact factor: 4.254

6.  Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size.

Authors:  Jingmei Li; Jia Nee Foo; Nils Schoof; Jajini S Varghese; Pablo Fernandez-Navarro; Gretchen L Gierach; Swee Tian Quek; Mikael Hartman; Silje Nord; Vessela N Kristensen; Marina Pollán; Jonine D Figueroa; Deborah J Thompson; Yi Li; Chiea Chuen Khor; Keith Humphreys; Jianjun Liu; Kamila Czene; Per Hall
Journal:  J Med Genet       Date:  2013-07-03       Impact factor: 6.318

7.  Familial risks, early-onset breast cancer, and BRCA1 and BRCA2 germline mutations.

Authors:  Gillian S Dite; Mark A Jenkins; Melissa C Southey; Jane S Hocking; Graham G Giles; Margaret R E McCredie; Deon J Venter; John L Hopper
Journal:  J Natl Cancer Inst       Date:  2003-03-19       Impact factor: 13.506

8.  Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

Authors:  Kyriaki Michailidou; Per Hall; Anna Gonzalez-Neira; Maya Ghoussaini; Joe Dennis; Roger L Milne; Marjanka K Schmidt; Jenny Chang-Claude; Stig E Bojesen; Manjeet K Bolla; Qin Wang; Ed Dicks; Andrew Lee; Clare Turnbull; Nazneen Rahman; Olivia Fletcher; Julian Peto; Lorna Gibson; Isabel Dos Santos Silva; Heli Nevanlinna; Taru A Muranen; Kristiina Aittomäki; Carl Blomqvist; Kamila Czene; Astrid Irwanto; Jianjun Liu; Quinten Waisfisz; Hanne Meijers-Heijboer; Muriel Adank; Rob B van der Luijt; Rebecca Hein; Norbert Dahmen; Lars Beckman; Alfons Meindl; Rita K Schmutzler; Bertram Müller-Myhsok; Peter Lichtner; John L Hopper; Melissa C Southey; Enes Makalic; Daniel F Schmidt; Andre G Uitterlinden; Albert Hofman; David J Hunter; Stephen J Chanock; Daniel Vincent; François Bacot; Daniel C Tessier; Sander Canisius; Lodewyk F A Wessels; Christopher A Haiman; Mitul Shah; Robert Luben; Judith Brown; Craig Luccarini; Nils Schoof; Keith Humphreys; Jingmei Li; Børge G Nordestgaard; Sune F Nielsen; Henrik Flyger; Fergus J Couch; Xianshu Wang; Celine Vachon; Kristen N Stevens; Diether Lambrechts; Matthieu Moisse; Robert Paridaens; Marie-Rose Christiaens; Anja Rudolph; Stefan Nickels; Dieter Flesch-Janys; Nichola Johnson; Zoe Aitken; Kirsimari Aaltonen; Tuomas Heikkinen; Annegien Broeks; Laura J Van't Veer; C Ellen van der Schoot; Pascal Guénel; Thérèse Truong; Pierre Laurent-Puig; Florence Menegaux; Frederik Marme; Andreas Schneeweiss; Christof Sohn; Barbara Burwinkel; M Pilar Zamora; Jose Ignacio Arias Perez; Guillermo Pita; M Rosario Alonso; Angela Cox; Ian W Brock; Simon S Cross; Malcolm W R Reed; Elinor J Sawyer; Ian Tomlinson; Michael J Kerin; Nicola Miller; Brian E Henderson; Fredrick Schumacher; Loic Le Marchand; Irene L Andrulis; Julia A Knight; Gord Glendon; Anna Marie Mulligan; Annika Lindblom; Sara Margolin; Maartje J Hooning; Antoinette Hollestelle; Ans M W van den Ouweland; Agnes Jager; Quang M Bui; Jennifer Stone; Gillian S Dite; Carmel Apicella; Helen Tsimiklis; Graham G Giles; Gianluca Severi; Laura Baglietto; Peter A Fasching; Lothar Haeberle; Arif B Ekici; Matthias W Beckmann; Hermann Brenner; Heiko Müller; Volker Arndt; Christa Stegmaier; Anthony Swerdlow; Alan Ashworth; Nick Orr; Michael Jones; Jonine Figueroa; Jolanta Lissowska; Louise Brinton; Mark S Goldberg; France Labrèche; Martine Dumont; Robert Winqvist; Katri Pylkäs; Arja Jukkola-Vuorinen; Mervi Grip; Hiltrud Brauch; Ute Hamann; Thomas Brüning; Paolo Radice; Paolo Peterlongo; Siranoush Manoukian; Bernardo Bonanni; Peter Devilee; Rob A E M Tollenaar; Caroline Seynaeve; Christi J van Asperen; Anna Jakubowska; Jan Lubinski; Katarzyna Jaworska; Katarzyna Durda; Arto Mannermaa; Vesa Kataja; Veli-Matti Kosma; Jaana M Hartikainen; Natalia V Bogdanova; Natalia N Antonenkova; Thilo Dörk; Vessela N Kristensen; Hoda Anton-Culver; Susan Slager; Amanda E Toland; Stephen Edge; Florentia Fostira; Daehee Kang; Keun-Young Yoo; Dong-Young Noh; Keitaro Matsuo; Hidemi Ito; Hiroji Iwata; Aiko Sueta; Anna H Wu; Chiu-Chen Tseng; David Van Den Berg; Daniel O Stram; Xiao-Ou Shu; Wei Lu; Yu-Tang Gao; Hui Cai; Soo Hwang Teo; Cheng Har Yip; Sze Yee Phuah; Belinda K Cornes; Mikael Hartman; Hui Miao; Wei Yen Lim; Jen-Hwei Sng; Kenneth Muir; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Chen-Yang Shen; Chia-Ni Hsiung; Pei-Ei Wu; Shian-Ling Ding; Suleeporn Sangrajrang; Valerie Gaborieau; Paul Brennan; James McKay; William J Blot; Lisa B Signorello; Qiuyin Cai; Wei Zheng; Sandra Deming-Halverson; Martha Shrubsole; Jirong Long; Jacques Simard; Montse Garcia-Closas; Paul D P Pharoah; Georgia Chenevix-Trench; Alison M Dunning; Javier Benitez; Douglas F Easton
Journal:  Nat Genet       Date:  2013-04       Impact factor: 38.330

9.  Genetic variants associated with breast size also influence breast cancer risk.

Authors:  Nicholas Eriksson; Geoffrey M Benton; Chuong B Do; Amy K Kiefer; Joanna L Mountain; David A Hinds; Uta Francke; Joyce Y Tung
Journal:  BMC Med Genet       Date:  2012-06-30       Impact factor: 2.103

10.  Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study.

Authors:  Sara Wedrén; Lovisa Lovmar; Keith Humphreys; Cecilia Magnusson; Håkan Melhus; Ann-Christine Syvänen; Andreas Kindmark; Ulf Landegren; Maria Lagerström Fermér; Fredrik Stiger; Ingemar Persson; John Baron; Elisabete Weiderpass
Journal:  Breast Cancer Res       Date:  2004-06-04       Impact factor: 6.466

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  28 in total

1.  Collaborative Modeling of the Benefits and Harms Associated With Different U.S. Breast Cancer Screening Strategies.

Authors:  Jeanne S Mandelblatt; Natasha K Stout; Clyde B Schechter; Jeroen J van den Broek; Diana L Miglioretti; Martin Krapcho; Amy Trentham-Dietz; Diego Munoz; Sandra J Lee; Donald A Berry; Nicolien T van Ravesteyn; Oguzhan Alagoz; Karla Kerlikowske; Anna N A Tosteson; Aimee M Near; Amanda Hoeffken; Yaojen Chang; Eveline A Heijnsdijk; Gary Chisholm; Xuelin Huang; Hui Huang; Mehmet Ali Ergun; Ronald Gangnon; Brian L Sprague; Sylvia Plevritis; Eric Feuer; Harry J de Koning; Kathleen A Cronin
Journal:  Ann Intern Med       Date:  2016-01-12       Impact factor: 25.391

2.  Heritability of mammographic breast density.

Authors:  D Gareth Evans; Elke M van Veen; Anthony Howell; Susan Astley
Journal:  Quant Imaging Med Surg       Date:  2020-12

Review 3.  Challenges and emerging systems biology approaches to discover how the human gut microbiome impact host physiology.

Authors:  Gordon Qian; Joshua W K Ho
Journal:  Biophys Rev       Date:  2020-07-07

4.  Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

Authors:  Alison M Dunning; Kyriaki Michailidou; Karoline B Kuchenbaecker; Deborah Thompson; Juliet D French; Jonathan Beesley; Catherine S Healey; Siddhartha Kar; Karen A Pooley; Elena Lopez-Knowles; Ed Dicks; Daniel Barrowdale; Nicholas A Sinnott-Armstrong; Richard C Sallari; Kristine M Hillman; Susanne Kaufmann; Haran Sivakumaran; Mahdi Moradi Marjaneh; Jason S Lee; Margaret Hills; Monika Jarosz; Suzie Drury; Sander Canisius; Manjeet K Bolla; Joe Dennis; Qin Wang; John L Hopper; Melissa C Southey; Annegien Broeks; Marjanka K Schmidt; Artitaya Lophatananon; Kenneth Muir; Matthias W Beckmann; Peter A Fasching; Isabel Dos-Santos-Silva; Julian Peto; Elinor J Sawyer; Ian Tomlinson; Barbara Burwinkel; Frederik Marme; Pascal Guénel; Thérèse Truong; Stig E Bojesen; Henrik Flyger; Anna González-Neira; Jose I A Perez; Hoda Anton-Culver; Lee Eunjung; Volker Arndt; Hermann Brenner; Alfons Meindl; Rita K Schmutzler; Hiltrud Brauch; Ute Hamann; Kristiina Aittomäki; Carl Blomqvist; Hidemi Ito; Keitaro Matsuo; Natasha Bogdanova; Thilo Dörk; Annika Lindblom; Sara Margolin; Veli-Matti Kosma; Arto Mannermaa; Chiu-Chen Tseng; Anna H Wu; Diether Lambrechts; Hans Wildiers; Jenny Chang-Claude; Anja Rudolph; Paolo Peterlongo; Paolo Radice; Janet E Olson; Graham G Giles; Roger L Milne; Christopher A Haiman; Brian E Henderson; Mark S Goldberg; Soo H Teo; Cheng Har Yip; Silje Nord; Anne-Lise Borresen-Dale; Vessela Kristensen; Jirong Long; Wei Zheng; Katri Pylkäs; Robert Winqvist; Irene L Andrulis; Julia A Knight; Peter Devilee; Caroline Seynaeve; Jonine Figueroa; Mark E Sherman; Kamila Czene; Hatef Darabi; Antoinette Hollestelle; Ans M W van den Ouweland; Keith Humphreys; Yu-Tang Gao; Xiao-Ou Shu; Angela Cox; Simon S Cross; William Blot; Qiuyin Cai; Maya Ghoussaini; Barbara J Perkins; Mitul Shah; Ji-Yeob Choi; Daehee Kang; Soo Chin Lee; Mikael Hartman; Maria Kabisch; Diana Torres; Anna Jakubowska; Jan Lubinski; Paul Brennan; Suleeporn Sangrajrang; Christine B Ambrosone; Amanda E Toland; Chen-Yang Shen; Pei-Ei Wu; Nick Orr; Anthony Swerdlow; Lesley McGuffog; Sue Healey; Andrew Lee; Miroslav Kapuscinski; Esther M John; Mary Beth Terry; Mary B Daly; David E Goldgar; Saundra S Buys; Ramunas Janavicius; Laima Tihomirova; Nadine Tung; Cecilia M Dorfling; Elizabeth J van Rensburg; Susan L Neuhausen; Bent Ejlertsen; Thomas V O Hansen; Ana Osorio; Javier Benitez; Rachel Rando; Jeffrey N Weitzel; Bernardo Bonanni; Bernard Peissel; Siranoush Manoukian; Laura Papi; Laura Ottini; Irene Konstantopoulou; Paraskevi Apostolou; Judy Garber; Muhammad Usman Rashid; Debra Frost; Louise Izatt; Steve Ellis; Andrew K Godwin; Norbert Arnold; Dieter Niederacher; Kerstin Rhiem; Nadja Bogdanova-Markov; Charlotte Sagne; Dominique Stoppa-Lyonnet; Francesca Damiola; Olga M Sinilnikova; Sylvie Mazoyer; Claudine Isaacs; Kathleen B M Claes; Kim De Leeneer; Miguel de la Hoya; Trinidad Caldes; Heli Nevanlinna; Sofia Khan; Arjen R Mensenkamp; Maartje J Hooning; Matti A Rookus; Ava Kwong; Edith Olah; Orland Diez; Joan Brunet; Miquel Angel Pujana; Jacek Gronwald; Tomasz Huzarski; Rosa B Barkardottir; Rachel Laframboise; Penny Soucy; Marco Montagna; Simona Agata; Manuel R Teixeira; Sue Kyung Park; Noralane Lindor; Fergus J Couch; Marc Tischkowitz; Lenka Foretova; Joseph Vijai; Kenneth Offit; Christian F Singer; Christine Rappaport; Catherine M Phelan; Mark H Greene; Phuong L Mai; Gad Rennert; Evgeny N Imyanitov; Peter J Hulick; Kelly-Anne Phillips; Marion Piedmonte; Anna Marie Mulligan; Gord Glendon; Anders Bojesen; Mads Thomassen; Maria A Caligo; Sook-Yee Yoon; Eitan Friedman; Yael Laitman; Ake Borg; Anna von Wachenfeldt; Hans Ehrencrona; Johanna Rantala; Olufunmilayo I Olopade; Patricia A Ganz; Robert L Nussbaum; Simon A Gayther; Katherine L Nathanson; Susan M Domchek; Banu K Arun; Gillian Mitchell; Beth Y Karlan; Jenny Lester; Gertraud Maskarinec; Christy Woolcott; Christopher Scott; Jennifer Stone; Carmel Apicella; Rulla Tamimi; Robert Luben; Kay-Tee Khaw; Åslaug Helland; Vilde Haakensen; Mitch Dowsett; Paul D P Pharoah; Jacques Simard; Per Hall; Montserrat García-Closas; Celine Vachon; Georgia Chenevix-Trench; Antonis C Antoniou; Douglas F Easton; Stacey L Edwards
Journal:  Nat Genet       Date:  2016-02-29       Impact factor: 38.330

5.  Association between breast cancer genetic susceptibility variants and terminal duct lobular unit involution of the breast.

Authors:  Gretchen L Gierach; Jonine D Figueroa; Clara Bodelon; Hannah Oh; Nilanjan Chatterjee; Montserrat Garcia-Closas; Maya Palakal; Mark E Sherman; Ruth M Pfeiffer; Berta Geller; Pamela Vacek; Donald L Weaver; Rachael Chicoine; Daphne Papathomas; Jackie Xiang; Deesha A Patel; Zeina G Khodr; Laura Linville; Susan E Clare; Daniel W Visscher; Carolyn Mies; Stephen M Hewitt; Louise A Brinton; Anna Maria V Storniolo; Chunyan He; Stephen J Chanock
Journal:  Int J Cancer       Date:  2016-11-18       Impact factor: 7.396

6.  Overexpression of the fat mass and obesity associated gene (FTO) in breast cancer and its clinical implications.

Authors:  Aihua Tan; Yiwu Dang; Gang Chen; Zengnan Mo
Journal:  Int J Clin Exp Pathol       Date:  2015-10-01

7.  Does mammographic density mediate risk factor associations with breast cancer? An analysis by tumor characteristics.

Authors:  Megan S Rice; Rulla M Tamimi; Kimberly A Bertrand; Christopher G Scott; Matthew R Jensen; Aaron D Norman; Daniel W Visscher; Yunn-Yi Chen; Kathleen R Brandt; Fergus J Couch; John A Shepherd; Bo Fan; Fang-Fang Wu; Lin Ma; Laura C Collins; Steven R Cummings; Karla Kerlikowske; Celine M Vachon
Journal:  Breast Cancer Res Treat       Date:  2018-03-03       Impact factor: 4.872

8.  Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk.

Authors:  Shuai Li; Tuong L Nguyen; Tu Nguyen-Dumont; James G Dowty; Gillian S Dite; Zhoufeng Ye; Ho N Trinh; Christopher F Evans; Maxine Tan; Joohon Sung; Mark A Jenkins; Graham G Giles; John L Hopper; Melissa C Southey
Journal:  Cancers (Basel)       Date:  2022-06-02       Impact factor: 6.575

Review 9.  Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.

Authors:  Jenna Lilyquist; Kathryn J Ruddy; Celine M Vachon; Fergus J Couch
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2018-01-30       Impact factor: 4.254

10.  Diagnostic Accuracy of Breast Medical Tactile Examiners (MTEs): A Prospective Pilot Study.

Authors:  Michael P Lux; Julius Emons; Mayada R Bani; Marius Wunderle; Charlotte Sell; Caroline Preuss; Claudia Rauh; Sebastian M Jud; Felix Heindl; Hanna Langemann; Thomas Geyer; Anna-Lisa Brandl; Carolin C Hack; Werner Adler; Rüdiger Schulz-Wendtland; Matthias W Beckmann; Peter A Fasching; Paul Gass
Journal:  Breast Care (Basel)       Date:  2019-01-30       Impact factor: 2.860

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