Screening for ATM Mutations in an African-American Population to Identify a Predictor of Breast Cancer Susceptibility

2003 ◽  
Author(s):  
Barry S. Rosenstein
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
American Population ◽  
African American Population

Screening for ATM sequence alterations in African-American women diagnosed with breast cancer

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 10037-10037
Author(s):  
A. E. Hirsch ◽  
D. P. Atencio ◽  
B. S. Rosenstein
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African American Women ◽  
Cancer Susceptibility ◽  
Susceptibility Gene ◽  
Breast Cancer Susceptibility ◽  
Breast Cancer Susceptibility Gene ◽  
American Women ◽  
African American Population ◽  
Cancer Susceptibility Gene

10037 Background: Women who are heterozygous for mutations in the ATM gene, ATM carriers, are reported to have an increased risk of breast cancer compared with noncarriers of the mutation. There are few data on breast cancer susceptibility mutations in African-American women, particularly the non-BRCA mutations. We set out to determine whether there is evidence that ATM represents a breast cancer susceptibility gene in African-American women. Methods: One hundred thirty-two African-American women were screened for ATM sequence alterations. Thirty-seven (28%) were women with a histological diagnosis of breast cancer (cases) and 95 (72%) were age-matched women who were seen for a screening mammogram and had no evidence of cancer (controls). Genetic variants were identified using Denaturing High-Performance Liquid Chromatography (DHPLC). Results: Eighteen of 37 (49%) cases and 54/95 (57%) possessed at least one ATM variant (p =0.256). Missense variants were seen on 16/37 (43%) cases and 66/95 (69%) controls. In addition, 5/37 cases and 24/95 controls possessed multiple ATM sequence variants (p=0.107). The most common polymorphisms were: 378 T ->A, seen on 7/37 (19%) cases and 26/95 (27%) controls (p=0.219); 2685 A-> G, seen on 5/37 (11%) cases and 7/95 (6%) controls (p=0.217); and 1254 A-> G, seen on 2/37 (3%) cases and 9/95 (9%) controls (p=0.357). There were no significant differences in any of the single nucleotide polymorphisms (SNPs) detected between the cases and controls. Conclusions: We found no significant differences in the overall frequency of ATM variants between African-American women with breast cancer and an age-matched cohort of African-American women without breast cancer. ATM, therefore, does not appear to represent a breast cancer susceptibility gene in the African-American population. Many of the ATM variants that we found in high frequency were consistent with prior reports of common variants in patients of African ancestry. Comparing the difference in the frequency of ATM variants in the African-American population screened in this study with prior reports on non-African-American subjects will enable us to characterize the differential distribution of genetic alterations in various patient populations and lead to more optimally tailored cancer therapy. No significant financial relationships to disclose.

Recruitment for Breast Cancer Predisposition Studies in an Underserved African American Population

2005 ◽  
Vol 11 (1) ◽  
pp. 79-82 ◽  
Author(s):  
Annette Patterson ◽  
Helen Davis ◽  
David Euhus ◽  
Susan Neuhausen ◽  
Louise Strong ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Cancer Predisposition ◽  
American Population ◽  
African American Population ◽  
Breast Cancer Predisposition

Effects of an outreach and internal navigation program on breast cancer diagnosis in an urban cancer center with a large African-American population

Cancer ◽  
2008 ◽  
Vol 113 (3) ◽  
pp. 602-607 ◽  
Author(s):  
Sheryl G. A. Gabram ◽  
Mary Jo B. Lund ◽  
Jessica Gardner ◽  
Nadjo Hatchett ◽  
Harvey L. Bumpers ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Cancer Diagnosis ◽  
Breast Cancer Diagnosis ◽  
Cancer Center ◽  
American Population ◽  
African American Population ◽  
Navigation Program

scholarly journals Genetic Variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 Are Associated with Breast Cancer Susceptibility in a South American Population

Genes ◽  
2018 ◽  
Vol 9 (9) ◽  
pp. 427 ◽  
Author(s):  
Sebastián Morales ◽  
Tomas De Mayo ◽  
Felipe Gulppi ◽  
Patricio Gonzalez-Hormazabal ◽  
Valentina Carrasco ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
South American ◽  
Dependent Manner ◽  
Nucleotide Polymorphisms ◽  
American Population ◽  
South American Population ◽  
Risk Alleles ◽  
Increased Risk

Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated the association of five SNPs with BC risk in non-carriers of the BRCA1/2-mutation from a South American population. The SNPs were genotyped in 440 Chilean BRCA1/2-negative BC cases and 1048 controls. Our data do not support an association between rs2910164:G>C or rs3746444:A>G and BC risk. The rs12975333:G>T is monomorphic in the Chilean population. The pre-miR-605 rs2043556-C allele was associated with a decreased risk of BC, both in patients with a strong family history of BC and in early-onset non-familial BC (Odds ratio (OR) = 0.5 [95% confidence interval (CI) 0.4–0.9] p = 0.006 and OR = 0.6 [95% CI 0.5–0.9] p = 0.02, respectively). The rs4541843-T allele is associated with increased risk of familial BC. This is the first association study on rs4541843 and BC risk. Previously, we showed that the TOX3-rs3803662:C>T was significantly associated with increased risk of familial BC. Given that TOX3 mRNA is a target of miR-182, and that both the TOX3 rs3803662-T and pri-miR-182 rs4541843-T alleles are associated with increased BC risk, we evaluated their combined effect. Risk of familial BC increased in a dose-dependent manner with the number of risk alleles (p-trend = 0.0005), indicating an additive effect.

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