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https://doi.org/10.1371/journal.pgen.1004285
| Title: | Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast | Authors: | Sawyer E. Roylance R. Petridis C. Brook M.N. Nowinski S. Papouli E. Fletcher O. Pinder S. Hanby A. Kohut K. Gorman P. Pylkäs K. Jukkola-Vuorinen A. Kauppila S. Andrulis I.L. Knight J.A. Glendon G. Mulligan A.M. Devillee P. Tollenaar R.A.E.M. Seynaeve C.M. Caneppele M. Kriege M. Figueroa J. Chanock S.J. Sherman M.E. Hooning M.J. Hollestelle A. van den Ouweland A.M.W. van Deurzen C.H.M. Li J. Czene K. Peto J. Humphreys K. Cox A. Cross S.S. Reed M.W.R. Shah M. Jakubowska A. Lubinski J. Jaworska-Bieniek K. Durda K. Swerdlow A. dos Santos Silva I. Ashworth A. Orr N. Schoemaker M. Couch F.J. Hallberg E. González-Neira A. Pita G. Alonso M.R. Tessier D.C. Vincent D. Johnson N. Bacot F. Bolla M.K. Wang Q. Dennis J. Michailidou K. Dunning A.M. Hall P. Easton D. Pharoah P. Schmidt M.K. Swann R. Tomlinson I. Garcia-Closas M. Dwek M. Perkins K.-A. Gillett C. Houlston R. Ross G. De Ieso P. Southey M.C. Hopper J.L. Provenzano E. Apicella C. Wesseling J. Cornelissen S. Keeman R. Fasching P.A. Jud S.M. Ekici A.B. Beckmann M.W. Kerin M.J. Marme F. Schneeweiss A. Sohn C. Burwinkel B. Guénel P. Truong T. Laurent-Puig P. Kerbrat P. Bojesen S.E. Nordestgaard B.G. Nielsen S.F. Flyger H. Milne R.L. Perez J.I.A. Menéndez P. Benitez J. Brenner H. Dieffenbach A.K. Arndt V. Stegmaier C. Meindl A. Lichtner P. Schmutzler R.K. Lochmann M. Brauch H. Fischer H.-P. Ko Y.-D. Nevanlinna H. Muranen T.A. Aittomäki K. Blomqvist C. Bogdanova N.V. Dörk T. Lindblom A. Margolin S. Mannermaa A. Kataja V. Kosma V.-M. Hartikainen J.M. Chenevix-Trench G. Lambrechts D. Weltens C. Van Limbergen E. Hatse S. Chang-Claude J. Rudolph A. Seibold P. Flesch-Janys D. Radice P. Peterlongo P. Bonanni B. Volorio S. Giles G.G. Severi G. Baglietto L. Mclean C.A. Haiman C.A. Henderson B.E. Schumacher F. Le Marchand L. Simard J. Goldberg M.S. Labrèche F. Dumont M. Kristensen V. Winqvist R. |
Keywords: | estrogen receptor ADAM29 gene article breast carcinoma cancer susceptibility carcinoma in situ CDCA7 gene controlled study DIRC3 gene female FGFR2 gene gene locus genetic association genetic difference genetic predisposition genotype histopathology hTERT gene human human cell intraductal carcinoma LGR6 gene lobular carcinoma in situ major clinical study MAP3K1 gene MLLT10 gene oncogene RAD51L1 gene single nucleotide polymorphism TERT gene TOX3 gene tumor invasion ZMIZ1 gene ZNF365 gene breast tumor carcinoma in situ case control study genetic predisposition genetics lung carcinoma meta analysis middle aged Breast Neoplasms Carcinoma in Situ Carcinoma, Lobular Case-Control Studies Female Genetic Predisposition to Disease Genome-Wide Association Study Genotype Humans Middle Aged Polymorphism, Single Nucleotide |
Issue Date: | 2014 | Citation: | Sawyer E., Roylance R., Petridis C., Brook M.N., Nowinski S., Papouli E., Fletcher O., Pinder S., Hanby A., Kohut K., Gorman P., Pylkäs K., Jukkola-Vuorinen A., Kauppila S., Andrulis I.L., Knight J.A., Glendon G., Mulligan A.M., Devillee P., Tollenaar R.A.E.M., Seynaeve C.M., Caneppele M., Kriege M., Figueroa J., Chanock S.J., Sherman M.E., Hooning M.J., Hollestelle A., van den Ouweland A.M.W., van Deurzen C.H.M., Li J., Czene K., Peto J., Humphreys K., Cox A., Cross S.S., Reed M.W.R., Shah M., Jakubowska A., Lubinski J., Jaworska-Bieniek K., Durda K., Swerdlow A., dos Santos Silva I., Ashworth A., Orr N., Schoemaker M., Couch F.J., Hallberg E., González-Neira A., Pita G., Alonso M.R., Tessier D.C., Vincent D., Johnson N., Bacot F., Bolla M.K., Wang Q., Dennis J., Michailidou K., Dunning A.M., Hall P., Easton D., Pharoah P., Schmidt M.K., Swann R., Tomlinson I., Garcia-Closas M., Dwek M., Perkins K.-A., Gillett C., Houlston R., Ross G., De Ieso P., Southey M.C., Hopper J.L., Provenzano E., Apicella C., Wesseling J., Cornelissen S., Keeman R., Fasching P.A., Jud S.M., Ekici A.B., Beckmann M.W., Kerin M.J., Marme F., Schneeweiss A., Sohn C., Burwinkel B., Guénel P., Truong T., Laurent-Puig P., Kerbrat P., Bojesen S.E., Nordestgaard B.G., Nielsen S.F., Flyger H., Milne R.L., Perez J.I.A., Menéndez P., Benitez J., Brenner H., Dieffenbach A.K., Arndt V., Stegmaier C., Meindl A., Lichtner P., Schmutzler R.K., Lochmann M., Brauch H., Fischer H.-P., Ko Y.-D., Nevanlinna H., Muranen T.A., Aittomäki K., Blomqvist C., Bogdanova N.V., Dörk T., Lindblom A., Margolin S., Mannermaa A., Kataja V., Kosma V.-M., Hartikainen J.M., Chenevix-Trench G., Lambrechts D., Weltens C., Van Limbergen E., Hatse S., Chang-Claude J., Rudolph A., Seibold P., Flesch-Janys D., Radice P., Peterlongo P., Bonanni B., Volorio S., Giles G.G., Severi G., Baglietto L., Mclean C.A., Haiman C.A., Henderson B.E., Schumacher F., Le Marchand L., Simard J., Goldberg M.S., Labrèche F., Dumont M., Kristensen V., Winqvist R. (2014). Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast. PLoS Genetics 10 (4) : e1004285. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1004285 | Abstract: | 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. ? 2014. | Source Title: | PLoS Genetics | URI: | https://scholarbank.nus.edu.sg/handle/10635/161952 | ISSN: | 15537390 | DOI: | 10.1371/journal.pgen.1004285 |
| Appears in Collections: | Elements Staff Publications |
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