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- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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- Osorio, A., et al.
(författare)
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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)
- 2009
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Ingår i: British Journal of Cancer. - : Nature Publishing Group. - 0007-0920 .- 1532-1827. ; 101:12, s. 2048-2054
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Tidskriftsartikel (refereegranskat)abstract
- Background: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. Methods: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. Results: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
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- C., Ellberg, et al.
(författare)
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Body constitution in young healthy women from breast cancer higher risk families in relation to smoking
- 2017
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Ingår i: Cancer Research. - 1538-7445. ; 77:13
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Konferensbidrag (refereegranskat)abstract
- Introduction: The purpose of this study was to investigate potential associations between body composition and current smoking in young healthy women from high-risk families. Cigarette smoke contains >7000 chemicals of which 69 are established carcinogens and smoke also acts as an aromatase inhibitor. Smoking is now recognized as a carcinogen for the breast and influences both risk and prognosis. However, the underlying mechanisms need to be better elucidated. One study showed that breast cancer patients who smoked were younger, had a lower body mass index (BMI), smaller breast volumes, but a higher waist-to-hip ratio (WHR) than non-smokers. However, smoking was also associated with a higher frequency of prior oral contraceptive (OC) use. Since breast cancer development starts long before the tumor is clinically detectable, we aimed to study the impact of cigarette smoke on anthropometric factors. Material and methods: Between 1996 and 2006, 269 healthy women were included in a study on the impact of lifestyle factors in women 0.18). However, current smokers had significantly larger standardized waist circumference (78 vs 74 cm;adjP=0.02), and higher standardized WHR (0.79 vs 0.76;adjP=0.003) compared with non-smokers. Conclusion: Current smokers had significantly larger waist circumference and higher WHR, but similar BMI and breast volume compared with non-smokers, although most women had anthropometric measures within WHO's recommended limits. The difference in fat distribution towards more abdominal fat, suggests that current smoking is associated with a more inflammatory and/or androgenic profile at the age when breast cancer is initiated.
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