scholarly journals Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population.

2002 ◽  
Vol 49 (2) ◽  
pp. 351-356 ◽  
Author(s):  
Ewa Grzybowska ◽  
Marzena Siemińska ◽  
Helena Zientek ◽  
Ewa Kalinowska ◽  
Jadwiga Michalska ◽  
...  
Keyword(s):  
Bilateral Breast Cancer ◽  
Brca1 Gene ◽  
Germline Mutations ◽  
Ovarian Cancers ◽  
Frequent Mutations ◽  
Allele Specific ◽  
Specific Amplification ◽  
185Delag Mutation ◽  
Healthy Persons ◽  
Pcr Test

Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR test. Fifteen carriers of three different mutations: 5382insC, 185delAG and C61G in BRCA1 were found. Two families carried the 185delAG mutation and additional two C61G in BRCA1. Nobody carried the mutation 4153delA in BRCA1 nor 6174delT or 9631delC in BRCA2. Most of the carriers of a germline mutation were observed among the patients who developed bilateral breast cancer (17%). The lowest frequency of the germline mutations was found in the healthy persons who had two or more relatives affected with breast or ovarian cancer.

scholarly journals BRCA1 Gene Mutations in Sporadic Ovarian Carcinomas: Detection by PCR and Reverse Allele-specific Oligonucleotide Hybridization

1999 ◽  
Vol 45 (7) ◽  
pp. 976-981 ◽  
Author(s):  
Dan Tong ◽  
Margit Stimpfl ◽  
Alexander Reinthaller ◽  
Norbert Vavra ◽  
Silvia Müllauer-Ertl ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Detection System ◽  
Brca1 Mutation ◽  
Simultaneous Detection ◽  
Brca1 Gene ◽  
Germline Mutations ◽  
Ovarian Carcinomas ◽  
Primary Fallopian Tube Carcinoma ◽  
Oligonucleotide Hybridization ◽  
Allele Specific

Abstract Background: Although germline mutations in BRCA1 play a central role in familial breast and ovarian cancers, to date, no somatic mutations in BRCA1 have been reported in sporadic breast cancer, and only five somatic mutations have been identified in the sporadic ovarian carcinomas. Because loss of heterozygosity appears frequently at the BRCA1 locus in nonfamilial breast and ovarian carcinomas, we searched for mutations in the BRCA1 gene in sporadic ovarian tumors. Methods: We developed a detection system based on PCR and reverse allele-specific oligonucleotide hybridization on membrane strips for the simultaneous detection of 17 frequently occurring mutations in the BRCA1 gene. Results: As little as 2% mutant DNA in a sample could be detected. Two of 122 DNA samples isolated from sporadic ovarian tumor biopsies contained the Cys61Gly mutation. Both mutations were germline mutations. One of these was an ovarian metastasis of a primary fallopian tube carcinoma. The tubal carcinoma was also confirmed to contain the Cys61Gly mutation. Conclusions: This is the first report that a germline BRCA1 mutation is associated with primary tubal carcinoma. The 17 specific mutations in the BRCA1 gene do not play a major role in the tumorigenesis and progression of sporadic ovarian cancer.

Simple and Rapid Detection of Factor V Leiden by Allele-specific PCR Amplification

1996 ◽  
Vol 75 (05) ◽  
pp. 757-759 ◽  
Author(s):  
Rainer Blasczyk ◽  
Markus Ritter ◽  
Christian Thiede ◽  
Jenny Wehling ◽  
Günter Hintz ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Factor V ◽  
Specific Pcr ◽  
Pcr Rflp ◽  
Allele Specific ◽  
Specific Amplification ◽  
Allele Specific Pcr

SummaryResistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln506.

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing

2001 ◽  
Vol 18 (2) ◽  
pp. 149-156 ◽  
Author(s):  
Anna Jakubowska ◽  
Bohdan Górski ◽  
Tomasz Byrski ◽  
Tomasz Huzarski ◽  
Jacek Gronwald ◽  
...  
Keyword(s):  
Brca1 Gene ◽  
Germline Mutations

scholarly journals High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

2005 ◽  
Vol 7 (5) ◽  
Author(s):  
Petr Pohlreich ◽  
Michal Zikan ◽  
Jana Stribrna ◽  
Zdenek Kleibl ◽  
Marketa Janatova ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Brca1 Gene ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer
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