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Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

A Jakubowska, D Rozkrut, A Antoniou, U Hamann, RJ Scott, L McGuffog, S Healy, OM Sinilnikova, G Rennert, F Lejbkowicz, et al. (2012) BRITISH JOURNAL OF CANCER. 106(12). p.2016-2024
abstract
BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity. METHODS: To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C>T (rs6917) polymorphism and the MTHFR 677 C>T (rs1801133) polymorphism, respectively. RESULTS: There was no evidence of association between the PHB 1630 C>T and MTHFR 677 C>T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C>T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95% CI 1.10-2.04 and HR 2.16, 95% CI 1.24-3.76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele. CONCLUSION: The PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers.
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author
organization
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journalArticle (original)
publication status
published
subject
keyword
FOLATE STATUS, GENE, COMMON MUTATION, PROHIBITIN 3'-UNTRANSLATED REGION, METHYLENETETRAHYDROFOLATE REDUCTASE MTHFR, BRCA1/2 mutation carriers, PHB 1630 C > T polymorphism, breast/ovarian cancer risk, MTHFR 677 C > T polymorphism, EXPRESSION, RNA, CARCINOGENESIS, SUSCEPTIBILITY, CHROMOSOME-17
journal title
BRITISH JOURNAL OF CANCER
Br. J. Cancer
volume
106
issue
12
pages
2016 - 2024
Web of Science type
Article
Web of Science id
000305011100018
JCR category
ONCOLOGY
JCR impact factor
5.082 (2012)
JCR rank
35/196 (2012)
JCR quartile
1 (2012)
ISSN
0007-0920
DOI
10.1038/bjc.2012.160
language
English
UGent publication?
yes
classification
A1
copyright statement
I have retained and own the full copyright for this publication
id
5976657
handle
http://hdl.handle.net/1854/LU-5976657
date created
2015-06-05 12:13:15
date last changed
2017-03-07 12:58:36
@article{5976657,
  abstract     = {BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer risk. Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity. 
METHODS: To evaluate the potential role of genetic variants within PHB and MTHFR in breast and ovarian cancer risk, 4102 BRCA1 and 2093 BRCA2 mutation carriers, and 6211 BRCA1 and 2902 BRCA2 carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) were genotyped for the PHB 1630 C{\textrangle}T (rs6917) polymorphism and the MTHFR 677 C{\textrangle}T (rs1801133) polymorphism, respectively. 
RESULTS: There was no evidence of association between the PHB 1630 C{\textrangle}T and MTHFR 677 C{\textrangle}T polymorphisms with either disease for BRCA1 or BRCA2 mutation carriers when breast and ovarian cancer associations were evaluated separately. Analysis that evaluated associations for breast and ovarian cancer simultaneously showed some evidence that BRCA1 mutation carriers who had the rare homozygote genotype (TT) of the PHB 1630 C{\textrangle}T polymorphism were at increased risk of both breast and ovarian cancer (HR 1.50, 95\% CI 1.10-2.04 and HR 2.16, 95\% CI 1.24-3.76, respectively). However, there was no evidence of association under a multiplicative model for the effect of each minor allele. 
CONCLUSION: The PHB 1630TT genotype may modify breast and ovarian cancer risks in BRCA1 mutation carriers. This association need to be evaluated in larger series of BRCA1 mutation carriers.},
  author       = {Jakubowska, A and Rozkrut, D and Antoniou, A and Hamann, U and Scott, RJ and McGuffog, L and Healy, S and Sinilnikova, OM and Rennert, G and Lejbkowicz, F and Flugelman, A and Andrulis, IL and Glendon, G and Ozcelik, H and Thomassen, M and Paligo, M and Aretini, P and Kantala, J and Aroer, B and Von Wachenfeldt, A and Liljegren, A and Loman, N and Herbst, K and Kristoffersson, U and Rosenquist, R and Karlsson, P and Stenmark-Askmalm, M and Melin, B and Nathanson, KL and Domchek, SM and Byrski, T and Huzarski, T and Gronwald, J and Menkiszak, J and Cybulski, C and Serrano, P and Osorio, A and Cajal, TR and Tsitlaidou, M and Benitez, J and Gilbert, M and Rookus, M and Aalfs, CM and Kluijt, I and Boessenkool-Pape, JL and Meijers-Heijboer, HEJ and Oosterwijk, JC and van Asperen, CJ and Blok, MJ and Nelen, MR and van den Ouweland, AMW and Seynaeve, C and van der Luijt, RB and Devilee, P and Easton, DF and Peock, S and Frost, D and Platte, R and Ellis, SD and Fineberg, E and Evans, DG and Lalloo, F and Eeles, R and Jacobs, C and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Godwin, A and Bove, B and Stoppa-Lyonnet, D and Caux-Moncoutier, V and Belotti, M and Tirapo, C and Mazoyer, S and Barjhoux, L and Boutry-Kryza, N and Pujol, P and Coupier, I and Peyrat, JP and Vennin, P and Muller, D and Fricker, JP and Venat-Bouvet, L and Johannsson, O and Isaacs, C and Schmutzler, R and Wappenschmidt, B and Meindl, A and Arnold, N and Varon-Mateeva, R and Niederacher, D and Sutter, C and Deissler, H and Preisler-Adams, S and Simard, J and Soucy, P and Durocher, F and Chenevix-Trench, G and Beesley, J and Chen, X and Rebbeck, T and Couch, F and Wang, X and Lindor, N and Fredericksen, Z and Pankratz, VS and Peterlongo, P and Bonanni, B and Fortuzzi, S and Peissel, B and Szabo, C and Mai, PL and Loud, JT and Lubinski, J and CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer, on behalf of and Claes, Kathleen and De Leeneer, Kim and Poppe, Bruce and De Paepe, Anne},
  issn         = {0007-0920},
  journal      = {BRITISH JOURNAL OF CANCER},
  keyword      = {FOLATE STATUS,GENE,COMMON MUTATION,PROHIBITIN 3'-UNTRANSLATED REGION,METHYLENETETRAHYDROFOLATE REDUCTASE MTHFR,BRCA1/2 mutation carriers,PHB 1630 C {\textrangle} T polymorphism,breast/ovarian cancer risk,MTHFR 677 C {\textrangle} T polymorphism,EXPRESSION,RNA,CARCINOGENESIS,SUSCEPTIBILITY,CHROMOSOME-17},
  language     = {eng},
  number       = {12},
  pages        = {2016--2024},
  title        = {Association of PHB 1630 C {\textrangle} T and MTHFR 677 C {\textrangle} T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study},
  url          = {http://dx.doi.org/10.1038/bjc.2012.160},
  volume       = {106},
  year         = {2012},
}

Chicago
Jakubowska, A, D Rozkrut, A Antoniou, U Hamann, RJ Scott, L McGuffog, S Healy, et al. 2012. “Association of PHB 1630 C > T and MTHFR 677 C > T Polymorphisms with Breast and Ovarian Cancer Risk in BRCA1/2 Mutation Carriers: Results from a Multicenter Study.” British Journal of Cancer 106 (12): 2016–2024.
APA
Jakubowska, A., Rozkrut, D., Antoniou, A., Hamann, U., Scott, R., McGuffog, L., Healy, S., et al. (2012). Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. BRITISH JOURNAL OF CANCER, 106(12), 2016–2024.
Vancouver
1.
Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott R, McGuffog L, et al. Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study. BRITISH JOURNAL OF CANCER. 2012;106(12):2016–24.
MLA
Jakubowska, A, D Rozkrut, A Antoniou, et al. “Association of PHB 1630 C > T and MTHFR 677 C > T Polymorphisms with Breast and Ovarian Cancer Risk in BRCA1/2 Mutation Carriers: Results from a Multicenter Study.” BRITISH JOURNAL OF CANCER 106.12 (2012): 2016–2024. Print.