Genetic risk variants associated with in situ breast cancer

被引：27

作者：

Campa, Daniele ^{[1
]}

Barrdahl, Myrto ^{[1
]}

Gaudet, Mia M. ^{[2
]}

Black, Amanda ^{[3
]}

Chanock, Stephen J. ^{[3
,4
]}

Diver, W. Ryan ^{[2
]}

Gapstur, Susan M. ^{[2
]}

Haiman, Christopher ^{[5
]}

Hankinson, Susan ^{[6
,7
,8
]}

Hazra, Aditi ^{[8
,9
,10
]}

Henderson, Brian ^{[5
]}

Hoover, Robert N. ^{[3
]}

Hunter, David J. ^{[8
]}

Joshi, Amit D. ^{[8
]}

Kraft, Peter ^{[8
]}

Le Marchand, Loic ^{[11
]}

Lindstrom, Sara ^{[8
]}

Willett, Walter ^{[12
]}

Travis, Ruth C. ^{[13
]}

Amiano, Pilar ^{[14
,15
]}

Siddiq, Afshan ^{[16
]}

Trichopoulos, Dimitrios ^{[8
,17
,18
]}

Sund, Malin ^{[19
]}

Tjonneland, Anne ^{[20
]}

Weiderpass, Elisabete ^{[21
,22
,23
,24
]}

Peeters, Petra H. ^{[25
]}

Panico, Salvatore ^{[26
]}

Dossus, Laure ^{[27
,28
,29
]}

Ziegler, Regina G. ^{[3
]}

Canzian, Federico ^{[30
]}

Kaaks, Rudolf ^{[1
]}

机构：

[1] German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany

[2] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30303 USA

[3] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[4] Frederick Natl Lab Canc Res, Core Genotyping Facil, Gaithersburg, MD 20877 USA

[5] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[6] Univ Massachusetts, Sch Publ Hlth & Hlth Sci, Dept Epidemiol, Amherst, MA 01003 USA

[7] Brigham & Womens Hosp, Canc Res Ctr, Boston, MA 02115 USA

[8] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[9] Harvard Univ, Sch Med, Dept Med, Boston, MA 02115 USA

[10] Brigham & Womens Hosp, Channing Div Network Med, Dept Med, Boston, MA 02115 USA

[11] Univ Hawaii, Canc Res Ctr Hawaii, Honolulu, HI 96813 USA

[12] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA

[13] Univ Oxford, Nuffield Dept Populat Hlth, Canc Epidemiol Unit, Oxford OX3 7LF, England

[14] BIODonostia Res Inst, Basque Hlth Dept, Publ Hlth Div Gipuzkoa, San Sebastian 20013, Spain

[15] CIBER Epidemiol & Publ Hlth CIBERESP, Madrid 28029, Spain

[16] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, London W2 1PG, England

[17] Acad Athens, Bur Epidemiol Res, Athens 11527, Greece

[18] Hellen Hlth Fdn, Athens 11527, Greece

[19] Umea Univ, Dept Surg & Perioperat Sci, S-90187 Umea, Sweden

[20] Danish Canc Soc, Res Ctr, DK-2100 Copenhagen, Denmark

[21] Univ Tromso, Arctic Univ Norway, Fac Hlth Sci, Dept Community Med, N-9037 Tromso, Norway

[22] Canc Registry Norway, N-0304 Oslo, Norway

[23] Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden

[24] Folkhalsan Res Ctr, Dept Genet Epidemiol, Helsinki 00014, Finland

[25] Univ Med Ctr, Julius Ctr Hlth Sci & Primary Care, Dept Epidemiol, NL-3584 CG Utrecht, Netherlands

[26] Univ Naples Federico II, Dipartimento Med Clin & Chirurg, I-80131 Naples, Italy

[27] INSERM, Ctr Res Epidemiol & Populat Hlth CESP, U1018, Nutr Hormones & Womens Hlth Team, F-94805 Villejuif, France

[28] Univ Paris 11, UMRS 1018, F-94805 Villejuif, France

[29] IGR, F-94805 Villejuif, France

[30] German Canc Res Ctr, Genom Epidemiol Grp, D-69120 Heidelberg, Germany

来源：

BREAST CANCER RESEARCH | 2015年 / 17卷

关键词：

GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; PROSTATE-CANCER; COMMON VARIANTS; CONFER SUSCEPTIBILITY; CLINICAL-SIGNIFICANCE; IDENTIFIES; METAANALYSIS; SUBTYPES; TISSUES;

D O I：

10.1186/s13058-015-0596-x

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Introduction: Breast cancer in situ (BCIS) diagnoses, a precursor lesion for invasive breast cancer, comprise about 20 % of all breast cancers (BC) in countries with screening programs. Family history of BC is considered one of the strongest risk factors for BCIS. Methods: To evaluate the association of BC susceptibility loci with BCIS risk, we genotyped 39 single nucleotide polymorphisms (SNPs), associated with risk of invasive BC, in 1317 BCIS cases, 10,645 invasive BC cases, and 14,006 healthy controls in the National Cancer Institute's Breast and Prostate Cancer Cohort Consortium (BPC3). Using unconditional logistic regression models adjusted for age and study, we estimated the association of SNPs with BCIS using two different comparison groups: healthy controls and invasive BC subjects to investigate whether BCIS and BC share a common genetic profile. Results: We found that five SNPs (CDKN2BAS-rs1011970, FGFR2-rs3750817, FGFR2-rs2981582, TNRC9-rs3803662, 5p12-rs10941679) were significantly associated with BCIS risk (P value adjusted for multiple comparisons <0.0016). Comparing invasive BC and BCIS, the largest difference was for CDKN2BAS-rs1011970, which showed a positive association with BCIS (OR = 1.24, 95 % CI: 1.11-1.38, P = 1.27 x 10(-4)) and no association with invasive BC (OR = 1.03, 95 % CI: 0.99-1.07, P = 0.06), with a P value for case-case comparison of 0.006. Subgroup analyses investigating associations with ductal carcinoma in situ (DCIS) found similar associations, albeit less significant (OR = 1.25, 95 % CI: 1.09-1.42, P = 1.07 x 10(-3)). Additional risk analyses showed significant associations with invasive disease at the 0.05 level for 28 of the alleles and the OR estimates were consistent with those reported by other studies. Conclusions: Our study adds to the knowledge that several of the known BC susceptibility loci are risk factors for both BCIS and invasive BC, with the possible exception of rs1011970, a putatively functional SNP situated in the CDKN2BAS gene that may be a specific BCIS susceptibility locus.

引用

页数：10

共 51 条

[41] A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese population [J].

Sueta, Aiko ;

Ito, Hidemi ;

Kawase, Takakazu ;

Hirose, Kaoru ;

Hosono, Satoyo ;

Yatabe, Yasushi ;

Tajima, Kazuo ;

Tanaka, Hideo ;

Iwata, Hiroji ;

Iwase, Hirotaka ;

Matsuo, Keitaro .

BREAST CANCER RESEARCH AND TREATMENT, 2012, 132 (02) :711-721

[42] Mammographic screening:: A key factor in the control of breast cancer [J].

Tabár, L ;

Smith, RA ;

Vitak, B ;

Yen, MF ;

Chen, THH ;

Warwick, J ;

Myles, JP ;

Duffy, SW .

CANCER JOURNAL, 2003, 9 (01) :15-27

[43] A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1) [J].

Thomas, Gilles ;

Jacobs, Kevin B. ;

Kraft, Peter ;

Yeager, Meredith ;

Wacholder, Sholom ;

Cox, David G. ;

Hankinson, Susan E. ;

Hutchinson, Amy ;

Wang, Zhaoming ;

Yu, Kai ;

Chatterjee, Nilanjan ;

Garcia-Closas, Montserrat ;

Gonzalez-Bosquet, Jesus ;

Prokunina-Olsson, Ludmila ;

Orr, Nick ;

Willett, Walter C. ;

Colditz, Graham A. ;

Ziegler, Regina G. ;

Berg, Christine D. ;

Buys, Saundra S. ;

McCarty, Catherine A. ;

Feigelson, Heather Spencer ;

Calle, Eugenia E. ;

Thun, Michael J. ;

Diver, Ryan ;

Prentice, Ross ;

Jackson, Rebecca ;

Kooperberg, Charles ;

Chlebowski, Rowan ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Brinton, Louise A. ;

Sigurdson, Alice ;

Doody, Michele ;

Bhatti, Parveen ;

Alexander, Bruce H. ;

Buring, Julie ;

Lee, I-Min ;

Vatten, Lars J. ;

Hveem, Kristian ;

Kumle, Merethe ;

Hayes, Richard B. ;

Tucker, Margaret ;

Gerhard, Daniela S. ;

Fraumeni, Joseph F., Jr. ;

Hoover, Robert N. ;

Chanock, Stephen J. ;

Hunter, David J. .

NATURE GENETICS, 2009, 41 (05) :579-584

[44] Is carcinoma in situ a precursor lesion of invasive breast cancer? [J].

To, Teresa ;

Wall, Claus ;

Baines, Cornelia J. ;

Miller, Anthony B. .

INTERNATIONAL JOURNAL OF CANCER, 2014, 135 (07) :1646-1652

[45]

Trentham-Dietz A, 2000, CANCER EPIDEM BIOMAR, V9, P697

[46] Genome-wide association study identifies five new breast cancer susceptibility loci [J].

Turnbull, Clare ;

Ahmed, Shahana ;

Morrison, Jonathan ;

Pernet, David ;

Renwick, Anthony ;

Maranian, Mel ;

Seal, Sheila ;

Ghoussaini, Maya ;

Hines, Sarah ;

Healey, Catherine S. ;

Hughes, Deborah ;

Warren-Perry, Margaret ;

Tapper, William ;

Eccles, Diana ;

Evans, D. Gareth ;

Hooning, Maartje ;

Schutte, Mieke ;

van den Ouweland, Ans ;

Houlston, Richard ;

Ross, Gillian ;

Langford, Cordelia ;

Pharoah, Paul D. P. ;

Stratton, Michael R. ;

Dunning, Alison M. ;

Rahman, Nazneen ;

Easton, Douglas F. .

NATURE GENETICS, 2010, 42 (06) :504-U47

[47] Ductal Carcinoma In Situ of the Breast: A Systematic Review of Incidence, Treatment, and Outcomes [J].

Virnig, Beth A. ;

Tuttle, Todd M. ;

Shamliyan, Tatyana ;

Kane, Robert L. .

JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2010, 102 (03) :170-178

[48] HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants [J].

Ward, Lucas D. ;

Kellis, Manolis .

NUCLEIC ACIDS RESEARCH, 2012, 40 (D1) :D930-D934

[49] Epidemiology of in situ and invasive breast cancer in women aged under 45 [J].

Weiss, HA ;

Brinton, LA ;

Brogan, D ;

Coates, RJ ;

Gammon, MD ;

Malone, DE ;

Schoenberg, JB ;

Swanson, CA .

BRITISH JOURNAL OF CANCER, 1996, 73 (10) :1298-1305

[50] High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model [J].

Worsham, Maria J. ;

Pals, Gerard ;

Schouten, Jan P. ;

Miller, Fred ;

Tiwari, Nivedita ;

van Spaendonk, Rosalina ;

Wolman, Sandra R. .

BREAST CANCER RESEARCH AND TREATMENT, 2006, 96 (02) :177-186

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