INTRODUCTION: @entity0 ( @entity0 ) is an important public health problem worldwide. In Brazil, @entity0 is the most frequently diagnosed @entity5 and the leading cause of @entity5 in @entity1 . @entity4310 represents approximately 5 to 10 % of @entity0 cases. Even outside the @entity4310 context, the presence of polymorphisms acting as genetic modifiers may contribute to a better or worse prognosis. Not much is known about the hereditary @entity0 epidemiology in Brazil or about the influence of polymorphisms on hereditary predisposition. OBJECTIVE: This study examined the role of five different polymorphisms in four groups of @entity1 with @entity0 : Group 1: @entity1 with a germline mutation in the @entity6069 genes; Group 2: @entity1 with variants of uncertain significance in @entity6069 and Group 3: @entity1 with no mutations in @entity6069 . @entity1 AND METHODS: The @entity1 included in groups 1, 2 and 3 were @entity1 from the Department of Oncogenetics of the Barretos Cancer Hospital who had undergone genetic testing because of a clinical suspicion of @entity4310 . The constitutive DNA was analyzed for the presence of polymorphisms at @entity70161 ( @entity7991 gene); @entity59656 ( @entity15300 ); @entity70162 ( @entity44985 ); @entity50230 ( @entity34269 gene); and @entity70163 (8q24). The analyses were performed using PCR amplification and bi-directional sequencing. RESULTS: No differences were identified in the frequency of the polymorphisms that were analyzed among the three groups. However, some associations were identified, such as the occurrence of @entity0 and homozygosity for the G allele in @entity70163 as well as the correlation between the SNPs @entity70161 and @entity70163 and the number of @entity5 cases in the family. Regarding the G allele of @entity70163 , we observed that the proportion of individuals who were homozygous for this allele increased with the number of generations affected by @entity5 , regardless of the group where the @entity1 were included. Concerning the @entity70161 we could observe that individuals from group 1 and homozygous CC had fewer @entity5 (and also fewer @entity0 ) cases. Regarding the hormone receptors, we observed an increased frequency in C homozygotes ( @entity59656 ) among @entity172 receptor-negative individuals from groups 1 and 3. For @entity70161 ( @entity7991 ), we observed an increased frequency of the T allele in @entity1 who were positive for the @entity172 and @entity1420 receptors regardless of the @entity5345 /2 mutational status (p   =   0.020 and p   =   0.014, respectively). CONCLUSION: The results presented here provide interesting data on the modifying effect of polymorphisms on a family history of @entity5 ; this may be a variable to consider in the analysis of @entity5 diversity, and of the family history observed in families with @entity0 (even in those harboring the same type of @entity74 ).

Association of polymorphisms with a family history of @entity5 and the presence of germline mutations in the XXXX /BRCA2 genes.

@entity1 :: ('9606', 'Species') :: ['women', 'patients', 'PATIENTS'] @entity70161 :: ('rs2981582', 'SNP') :: ['rs2981582'] @entity15300 :: ('27324', 'Gene') :: ['TNRC9'] @entity50230 :: ('rs3817198', 'SNP') :: ['rs3817198'] @entity172 :: ('MESH:D004967', 'Chemical') :: ['estrogen'] @entity0 :: ('MESH:D001943', 'Disease') :: ['breast cancer', 'hereditary breast cancer', 'bilateral breast cancer', 'Breast cancer', 'BC'] @entity1420 :: ('MESH:D011374', 'Chemical') :: ['progesterone'] @entity34269 :: ('4046', 'Gene') :: ['LSP1'] @entity5 :: ('MESH:D009369', 'Disease') :: ['tumor', 'cancer death', 'cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity44985 :: ('4214', 'Gene') :: ['MAP3K1'] @entity6069 :: ('672;675', 'Gene') :: ['BRCA1/2'] @entity7991 :: ('2263', 'Gene') :: ['FGFR2'] @entity70163 :: ('rs13281615', 'SNP') :: ['rs13281615'] @entity74 :: ('MESH:D030342', 'Disease') :: ['genetic alteration'] @entity4310 :: ('MESH:D009386', 'Disease') :: ['Hereditary cancer', 'hereditary cancer', 'hereditary predisposition syndrome'] @entity59656 :: ('rs3803662', 'SNP') :: ['rs3803662'] @entity70162 :: ('rs889312', 'SNP') :: ['rs889312']
@entity5345 :: (672,Gene) :: ['BRCA1']
