Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer

Schrauder, MG; Frank, Stephan; Strissel, Pamela L.; Lux, Michael P.; Bani, M. R.; Rauh, Claudia; Sieber, Cornel; Hartmann, Anne; Schulz-Wendtland, R.; Strick, Reiner; Beckmann, Matthias W.; Fasching, Peter A.

doi:10.1007/s00432-008-0355-9

Cited by 39 publications

(30 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A longer OS was reported in the same study population for patients who are homozygous for the 60A allele (Okazaki et al, 2008). The ATM SNP determined in the current study (rs1801516, or G5557A) has recently been shown to have an association with a reduced risk of breast cancer (Schrauder et al, 2008). This particular SNP is not in linkage with the ATM SNPs T-77C and G60A (r 2 ¼ 0.22, based on HapMap data phase II, March 2008).…”

Section: Discussionmentioning

confidence: 47%

See 1 more Smart Citation

Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array

et al. 2009

View full text Add to dashboard Cite

PURPOSE: To identify new polymorphisms (single nucleotide polymorphisms, SNPs) in DNA repair pathways that are associated with efficacy and toxicity in patients receiving oxaliplatin and capecitabine for advanced colorectal cancer (ACC). METHODS: We studied progression-free survival (PFS) in 91 ACC patients, of whom germ-line DNA was isolated and genotyped using an Asper Biotech array. Overall survival (OS) and toxicity were studied as secondary end points. A step-wise selection of SNPs was performed, involving univariate and multivariate log-rank tests and Cox regression analysis, with age and performance status as covariates. RESULTS: A total of 81 SNPs in 46 genes on the array were selected for further analysis, based on genotyping success rates and minor allele frequencies. After step-wise selection, we found that homozygosity for the ataxia telangiectasia mutated gene (ATM) rs1801516 or excision repair cross-complementing gene (ERCC5) rs1047768 SNPs was associated with shorter PFS; however there were no significant associations (P40.01) with OS or toxicity. DISCUSSION: This is the first study describing the pathway gene approach for the selection of new candidate genes involved in oxaliplatin efficacy and toxicity. The results suggest that the ATM and ERCC5 genes may be associated with oxaliplatin efficacy in ACC.

show abstract

Section: Discussionmentioning

confidence: 47%

“…However, theoretically the substitution of the negatively charged Asp to neutral Asn may influence the ATM's interaction with other proteins. This may be a likely explanation, because the Asp amino acid at position 1853 appears to be highly conserved trough evolution (Schrauder et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array

et al. 2009

View full text Add to dashboard Cite

show abstract

“…In the same study, African-American and Asian groups had lower allele frequencies: African-Americans 8.4 and 7.8% in cases and controls, respectively, and Asians, 2.3% in cases and 5.9% in controls. 23 Consistent with the frequency of polymorphism 5557G>A found in the Caucasian group by Bretsky and colleagues, 23 Schrauder and colleagues 17 reported, in German population, a frequency of 19.3% in the case group and of 25.3% in controls.…”

Section: Discussionmentioning

confidence: 59%

“…Schrauder and colleagues analyzed this variant by real time PCR, in 514 patients with BC and in 511 age-matched healthy controls, resulting in the association of this variant with the risk of developing BC (p = 0.04). 17 In European population, this variant has been described by Angéle and colleagues. 18 They found a higher frequency of homozygotes in cases of individuals with BC that received radiotherapy compared with those who did not (odds ratio [OR] 6.76), associating this variant with increased radio-sensitivity in breast tissue, and suggesting it as a risk factor that predisposes for reaction effects after radiotherapy.…”

Section: Studies Of Polymorphism 5557g>amentioning

confidence: 86%

ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer

Calderón-Zúñiga¹,

Ocampo-Gomez²,

López-Márquez³

et al. 2014

Salud Publica Mex

View full text Add to dashboard Cite

ResumenObjetivo. Evaluar si en la población mexicana las frecuencias de los polimorfismos IVS-9delT, IVS38-8T>C y 5557G>A en casos de cáncer de mama y en controles sanos son diferentes de las encontradas en otros países. Material y métodos. Los polimorfismos IVS24-9delT, IVS38-8T>C y 5557G>A fueron analizados mediante PCR-RFLPs en 94 pacientes con CM de tipo familiar o de inicio temprano y 97 testigos seleccionadas de forma aleatoria. El análisis de la frecuencia alélica se hizo mediante χ 2 y equilibrio de HardyWeinberg. Resultados. Las frecuencias de heterocigotos fueron 5557G>A, 13% de casos, 0% de testigos (p=0.0009); IVS24-9delT, 21% de casos, 8% de testigos (p=0.0122); IVS38-8T>C, sólo un caso. 5557G>A y IVS24-9delT fueron más frecuentes en casos que en testigos. Las frecuencias alélicas encontradas en 5557G>A son similares a las descritas por González-Hormazábal en Chile. Conclusión. La similitud de resultados en este polimorfismo entre la población chilena y mexicana puede ser debida a que ambas son mestizas con un componente amerindio-español. Las diferencias encontradas podrían explicarse porque la población chilena tiene mayor componente europeo que la mexicana. AbstractObjective. To assess whether in Mexican population the frequencies of ATM polymorphisms IVS24-9delT, IVS38-8-T>C, and 5557G>A in breast cancer (BC) cases and healthy controls were different from those found in other countries. Materials and methods. Frequencies of polymorphisms conferring BC risk IVS24-9delT, IVS38-8T>C, and 5557G>A were analyzed by PCR-RFLP in 94 patients with familial and/or early onset BC, and 97 healthy controls randomly selected. Allele frequencies analysis was done using χ 2 and Hardy-Weinberg test. Results. Frequencies of heterozygous were: for 5557G>A, 13% cases, 0%controls (p=0.0009); for IVS24-9delT, 21% cases, 8% controls (p=0.0122); for IVS38-8T>C, only one case. 5557G>A and IVS24-9delT were more frequent in cases than in controls. The allelic frequencies found in 5557G>A are similar to those described by González-Hormazábal in Chile. Conclusion. The similarity of results in this polymorphism between Chilean and Mexican populations may be due to both being crossbred with an Amerindian-Spanish component, while differences may be due to fact that Chilean population has a greater European component than Mexican's.

show abstract

“…Cases and controls were collected from 2002 to 2008 [26][27][28][29]. The BBCC is part of the Breast Cancer Association Consortium (BCAC) and has taken part in the validation of confirmed breast cancer susceptibility single nucleotide polymorphisms (SNPs) [30][31][32][33][34][35][36][37][38].…”

Section: Patient Cohortmentioning

confidence: 99%

Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients

Hein¹,

Bayer²,

Schrauder³

et al. 2014

Geburtshilfe Frauenheilkd

View full text Add to dashboard Cite

The receptor activator of NF-B (RANK) pathway is involved in bone health as well as breast cancer (BC) pathogenesis and progression. Whereas the therapeutic implication of this pathway is established for the treatment of osteoporosis and bone metastases, the application in adjuvant BC is currently investigated. As genetic variants in this pathway have been described to influence bone health, aim of this study was the prognostic relevance of genetic variants in RANK and RANKL. Single nucleotide polymorphisms in RANK(L) (rs1054016/rs1805034/rs35211496) were genotyped and analyzed with regard to bone metastasis-free survival (BMFS), disease-free survival, and overall survival for a retrospective cohort of 1251 patients. Cox proportional hazard models were built to examine the prognostic influence in addition to commonly established prognostic factors. The SNP rs1054016 seems to influence BMFS. Patients with two minor alleles had a more favorable prognosis than patients with at least one common allele (HR 0.37 (95% CI: 0.17, 0.84)), whereas other outcome parameters remained unaffected. rs1805034 and rs35211496 had no prognostic relevance. The effect of rs1054016(RANKL) adds to the evidence that the RANK pathway plays a role in BC pathogenesis and progression with respect to BMFS, emphasizing the connection between BC and bone health.

show abstract

Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer

Abstract: The results of this study might suggest a minor association between polymorphism 5557G>A and a reduced risk of breast cancer.

Cited by 39 publications

References 31 publications

Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array

Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array

ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer

Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients

Contact Info

Product

Resources

About