Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

Osorio, Ana; Milne, Roger L.; Pita, Guillermo; Peterlongo, Paolo; Heikkinen, Tuomas; Simard, Jacques; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Beesley, Jonathan; Chen, X.; Healey, Sue; Neuhausen, Susan L.; Ding, Yuan Chun; Couch, Fergus J.; Wang, X.; Lindor, Noralane M.; Manoukian, Siranoush; Barile, Mônica; Viel, Alessandra; Tizzoni, Laura; Szabo, Csilla I.; Foretová, Lenka; Zikán, Michal; Claes, Kathleen; Greene, Mark H.; Mai, PL; Rennert, Gad; Lejbkowicz, Flavio; Barnett‐Griness, Ofra; Andrulis, Irene L.; Özçelik, Hilmi; Weerasooriya, Nayana; Gerdes, Anne–Marie; Thomassen, Mads; Crüger, Dorthe Gylling; Caligo, Maria A.; Friedman, Eitan; Kaufman, Bella; Laitman, Yael; Cohen, Shimrit; Kontorovich, Tair; Gershoni‐Baruch, Ruth; Dagan, Efrat; Jernström, Helena; Askmalm, Marie Stenmark; Arver, Brita; Malmer, Beatrice; Domchek, Susan M.; Nathanson, Katherine L.; Brunet, Joan; Cajal, Teresa Ramón y; Yannoukakos, Drakoulis; Hamann, Ute; Hogervorst, Frans B.L.; Verhoef, Senno; Garcíla, E. B Gómez; Wijnen, Juul T.; Ouweland, Ans van den; Easton, Douglas F.; Peock, Susan; Cook, Margaret; Oliver, Clare; Frost, Debra; Luccarini, Craig; Evans, D. Gareth; Lalloo, Fiona; Eeles, Rosalind; Pichert, Gabriella; Cook, Jackie; Hodgson, Shirley; Morrison, Patrick J.; Douglas, Gillian; Godwin, Andrew K.; Sinilnikova, Olga M.; Barjhoux, Laure; Stoppa‐Lyonnet, Dominique; Moncoutier, Virginie; Giraud, Sophie; Cassini, Carina; Olivier-Faivre, Laurence; Révillion, Françoise; Peyrat, Jean Philippe; Muller, Danièle; Fricker, Jean Pierre; Lynch, Henry T.; John, Esther M.; Buys, Saundra S.; Daly, Mary B.; Hopper, John L.; Terry, Mary Beth; Miron, Alexander; Yassin, Yosuf; Goldgar, David E.; Singer, Christian F.; Gschwantler‐Kaulich, Daphne; Pfeiler, Georg; Spiess, A.; Hansen, Thomas van Overeem; Jóhannsson, Óskar T.; Kirchhoff, Tomas; Offit, Kenneth; Kosarin, Kristi; Piedmonte, Marion; Rodriguez, Gustavo C.; Wakeley, Katie; Boggess, John F.; Basil, Jack; Schwartz, Peter E.; Blank, Stephanie V.; Toland, Amanda E.; Montagna, Marco; Casella, Cinzia; Imyanitov, Evgeny N.; Allavena, Anna; Schmutzler, Rita K.; Versmold, Beatrix; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Niederacher, Dieter; H., Deiler,; Fiebig, Britta; Varon-Mateeva, Raymonda; Schaefer, Dieter; Froster, Ursula G.; Caldés, Trinidad; Hoya, Miguel de la; McGuffog, Lesley; Antoniou, Antonis C.; Nevanlinna, Heli; Radice, Paolo; Benı́tez, Javier

doi:10.1038/sj.bjc.6605416

Cited by 15 publications

(11 citation statements)

References 19 publications

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“…Multi-center, multi-national studies recently showed that such SNPs either did not modify the risk of breast cancer in BRCA1/2 mutation carriers or only modestly (eg, RR 1.1-1.3). 28,29 Xu et al analyzed the utility of the 14 SNPs associated with prostate cancer risk. 30 By themselves, the SNPs were not particularly helpful for identifying men who would go on to develop prostate cancer, as we have noted in our present study.…”

Section: Discussionmentioning

confidence: 99%

Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers

2012

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Family history-based risk assessment (FHRA) is a genetic tool for identifying those at risk of disease. Genome-wide association studies have shown that single nucleotide polymorphisms (SNP) are statistically associated with low-to moderate-level risks of diseases. There has been limited study of complementarity for these two assessment methods. We sought to compare cancer risk categorizations from FHRA and from Navigenics Personal Genome Screening (PGS). We compared FHRA with PGS for breast (22 females), prostate (22 males), and colon cancer (44 males and females) assessed by kappa (j) statistic. We also assessed each participant's hereditary risk based on clinical criteria and/or gene-test results. Both FHRA and PGS placed 59%, 68% and 44% of participants into the same risk categories for breast, prostate, and colon cancer, respectively. Overall, however, there was little concordance in FHRA versus PGS for all three cancer risks (jo0.2). FHRA assigned 22 with hereditary risk compared with PGS, which identified one as high risk (Po0.0001). We assessed nine with hereditary colorectal cancer risk, five with germline mutations, but none were classified as PGS high risk (P¼0.0001). FHRA and PGS may be complementary tools for cancer risk assessment. However, evaluation of family history remains the standard to evaluate an individual's cancer risk until further research.

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Section: Discussionmentioning

confidence: 99%

Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers

2012

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“…This polymorphism is located in the first intron of the ERCC4 gene and is associated with breast cancer 31 ; however, this is not observed in carriers of BRCA1 and BRCA2 mutations. 32 Although its function is unknown, the fact that the region is highly conserved in Canis familiaris 31 suggests that the base substitution at this site could influence biological activity.…”

Section: Epidemiologymentioning

confidence: 99%

EGFR exon 19 in‐frame deletion and polymorphisms of DNA repair genes in never‐smoking female lung adenocarcinoma patients

Yang

et al. 2012

Intl Journal of Cancer

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We explored potential associations between genetic polymorphisms in genes related to DNA repair and detoxification metabolism and epidermal growth factor receptor (EGFR) mutations in a cohort of 410 never-smoking patients with lung adenocarcinoma. Multivariate-adjusted odds ratios (aORs) and corresponding 95% confidence intervals (CI) of EGFR mutation status in association with the genotypes of DNA repair and detoxification metabolism genes were evaluated using logistic regression analysis. We found an association between in-frame deletion in EGFR exon 19 and a single nucleotide

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“…Several small studies have reported associations between common polymorphisms in candidate gene studies and the risk of breast or ovarian cancer for mutation carriers, but the majority of these associations did not replicate in subsequent studies [27][28][29][30][31][32]. More recent findings are awaiting replication in larger studies [33][34][35][36].…”

Section: Genetic Modifiers Of Riskmentioning

confidence: 84%

Unravelling modifiers of breast and ovarian cancer risk forBRCA1andBRCA2mutation carriers: update on genetic modifiers

Barnes¹,

Antoniou²

2012

Journal of Internal Medicine

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Abstract. Barnes DR, Antoniou AC (Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK). Unravelling modifiers of breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: update on genetic modifiers (Review). J Intern Med 2012;271: 331-343.Pathogenic mutations in the tumour suppressor genes BRCA1 and BRCA2 confer increased risks for breast and ovarian cancer and account for approximately 15% of the excess familial risk of breast cancer amongst first-degree relatives of patients with breast cancer. There is considerable evidence indicating that these risks vary by other genetic and environmental factors clustering in families. In the past few years, based on the availability of genomewide association data and samples from large collaborative studies, several common alleles have been found to modify breast or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. These common alleles explain a small proportion of the genetic variability in breast or ovarian cancer risk for mutation carriers, suggesting more modifiers remain to be identified. We review the so far identified genetic modifiers of breast and ovarian cancer risk and consider the implications for risk prediction. BRCA1 and BRCA2 mutation carriers could be some of the first to benefit from clinical applications of common variants identified through genomewide association studies. However, to be able to provide more individualized risk estimates, it will be important to understand how the associations vary with different tumour characteristics and their interactions with other genetic and environmental modifiers.

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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)

Cited by 15 publications

References 19 publications

Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers

Prospective comparison of family medical history with personal genome screening for risk assessment of common cancers

EGFR exon 19 in‐frame deletion and polymorphisms of DNA repair genes in never‐smoking female lung adenocarcinoma patients

Unravelling modifiers of breast and ovarian cancer risk forBRCA1andBRCA2mutation carriers: update on genetic modifiers

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