Young Breast Cancer Patients Undergoing Breast-Conserving Therapy: Role of BRCA1 and BRCA2

Author(s):  
Andrea Chao Bafford ◽  
Judy E. Garber ◽  
Anu Chittenden ◽  
Mehra Golshan
2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9566-9566
Author(s):  
J. Brunet ◽  
V. Berez ◽  
S. Sanjosé ◽  
A. Pelegrí ◽  
A. Izquierdo ◽  
...  

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. 9595-9595
Author(s):  
Irit Ben-Aharon ◽  
Tal Granot ◽  
Israel Meizner ◽  
Shulamith Rizel ◽  
Rinat Yerushalmi ◽  
...  

2018 ◽  
Vol 8 (1) ◽  
pp. 71-79 ◽  
Author(s):  
Kimberly A Kaphingst ◽  
Jennifer Ivanovich ◽  
Sarah Lyons ◽  
Barbara Biesecker ◽  
Rebecca Dresser ◽  
...  

2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9566-9566
Author(s):  
J. Brunet ◽  
V. Berez ◽  
S. Sanjosé ◽  
A. Pelegrí ◽  
A. Izquierdo ◽  
...  

2016 ◽  
Vol 31 (3) ◽  
pp. 258-263 ◽  
Author(s):  
Ana M. Krivokuca ◽  
Milena R. Cavic ◽  
Emina J. Malisic ◽  
Jelena D. Rakobradovic ◽  
Daniela Kolarevic-Ivankovic ◽  
...  

Background Thanks to immense improvements in technology over the past few decades, we have witnessed a major shift towards the idea that breast cancer results from a combined effect of multiple common alleles conferring low risk. This study investigates the role of 3 nonsynonymous SNPs in the DNA repair genes XRCC1 (R399Q), RAD51 (G135C) and TP53 (Arg72Pro) in breast cancer in Serbian women. Patients and Methods Cases of BRCA1/2-negative hereditary breast cancer (n = 52), sporadic breast cancer (n = 106) and age-matched cancer-free female controls (n = 104) were obtained from the Institute for Oncology and Radiology of Serbia's blood bank. Restriction fragment length polymorphism analysis was used for genotyping. Descriptive analyses included genotype and allelic frequencies; the odds ratio and 95% confidence interval were calculated as an estimate of the relative risk. Results A significant difference in QQ+RQ versus RR genotype distribution of XRCC1 was observed between hereditary breast cancer patients and cancer-free controls. The association was confirmed among young breast cancer patients from these high-risk families. The existence of 3 recessive alleles in the RAD51 and XRCC1 genotype combination showed an association with hereditary breast cancer. Odds ratio analysis indicated a strong protective role of the RAD51 GG + TP53 ArgArg + XRCC1 RR combined genotype against hereditary breast cancer negative for BRCA1/2 mutations. Conclusions The XRCC1 R399Q polymorphism showed an association with increased breast cancer risk in Serbia, especially in the hereditary form of the disease and in young breast cancer patients. Dominant alleles of RAD51, TP53 and XRCC1 combined genotypes indicated a strong protective role against hereditary breast cancer.


2015 ◽  
Vol 20 (9) ◽  
pp. 985-991 ◽  
Author(s):  
Irit Ben‐Aharon ◽  
Tal Granot ◽  
Israel Meizner ◽  
Noa Hasky ◽  
Ana Tobar ◽  
...  

Author(s):  
Ainur R. Akilzhanova ◽  
Bagdat Nyshanbekkyzy ◽  
Zhannur M. Nurkina ◽  
Ivan I. Shtephanov ◽  
Abay K. Makishev ◽  
...  

Background: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women.Aim: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer.Methods: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing.Results: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations.Conclusions:Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation. 


2019 ◽  
Vol 270 (2) ◽  
pp. 364-372 ◽  
Author(s):  
Alexandra J. van den Broek ◽  
Marjanka K. Schmidt ◽  
Laura J. van ’t Veer ◽  
Hester S. A. Oldenburg ◽  
Emiel J. Rutgers ◽  
...  

2000 ◽  
Vol 83 (6) ◽  
pp. 737-742 ◽  
Author(s):  
H Yazici ◽  
O Bitisik ◽  
E Akisik ◽  
N Cabioglu ◽  
P Saip ◽  
...  

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