Prevalence of BRCA1 and BRCA2 genes mutations in a sample of families with high risk of breast and ovarian cancer in Brazil.

2009 ◽  
Author(s):  
VF Esteves ◽  
LS Thuler ◽  
L Amendola ◽  
PP Frankel ◽  
RJ Vieira ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes

Increased risk of cervical cancer in high-risk families with and without mutations in the BRCA1 and BRCA2 genes

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 5588-5588 ◽  
Author(s):  
K. Rhiem ◽  
C. Fischer ◽  
K. Bosse ◽  
B. Wappenschmidt ◽  
R. K. Schmutzler
Keyword(s):  
Ovarian Cancer ◽  
Cervical Cancer ◽  
High Risk ◽  
Cancer Registries ◽  
Cancer Center ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
Increased Risk ◽  
High Risk Families

5588 Background: In BRCA germline mutation carriers increased risks for cancer at other sites than breast and ovary have been reported. Methods: To evaluate the risk of BRCA-associated cancers, we conducted a cross-section analysis in 4405 individuals from 409 families with BRCA1 (n=86) or BRCA2 mutations (n=53) and 270 high risk BRCA1/2 negative families ascertained by the Familial Breast and Ovarian Cancer Center Cologne. We considered proven mutation carriers, individuals affected by breast and ovarian cancer and their first degree relatives and identified 921 individuals from BRCA1 (604 female; 317 male), 571 from BRCA2 (365 female; 206 male) and 2913 from BRCA1/2 negative (1938 female; 975 male) families that suffered from 677 cancers other than breast and ovarian cancers. Relative risks (RR) of the study group compared to the general population were evaluated by the standardized incidence ratio (SIR), using data from two German Cancer Registries. Results: The risk for cervical cancer is significantly increased in women from BRCA1 and BRCA2 positive (RR=4.59, 95% CI=2.20 to 8.44, and RR=3.69, 95% CI=1.20 to 8.61; p=<0.001) and from BRCA1/2 negative families (RR=2.97, 95% CI=1.88 to 4.45). Moreover, the risk for pancreatic cancer in women from BRCA2 positive and BRCA1/2 negative families as well as the risk for prostate cancer in men from BRCA2 positive families is increased (RR=5.10, 95% CI=1.65 to 11.90; RR=1.98, 95% CI=1.02 to 3.46; RR=2.09; 95% CI=1.00 to 3.84). Conclusions: We here report an increased risk of cervical cancer for women from BRCA1 and BRCA2 positive and from BRCA1/2 negative high risk families, respectively. These results are in line with other studies in BRCA1 and 2 positive individuals and should be considered in the clinical risk management of these individuals. No significant financial relationships to disclose.

BRCA1 and BRCA2 Mutations in Breast and Ovarian Cancer Syndrome: Reflection on the Creighton University Historical Series of High Risk Families

2006 ◽  
Vol 5 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Olga M. Sinilnikova ◽  
Sylvie Mazoyer ◽  
Colette Bonnardel ◽  
Henry T. Lynch ◽  
Steven A. Narod ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Historical Series ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations ◽  
High Risk Families

scholarly journals Screening for mutations in BRCA1 and BRCA2 genes and related perspectives for the healthcare system

2021 ◽  
Vol 18 (1-2) ◽  
pp. 44-57
Author(s):  
Y. O. Tabaliuk ◽  
L. A. Rybchenko ◽  
B. T. Klimuk ◽  
S. V. Klymenko
Keyword(s):  
Ovarian Cancer ◽  
Genetic Test ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca1 And Brca2 Genes ◽  
Prevention And Treatment ◽  
Cancer Mutations ◽  
Brca1 Brca2 ◽  
Detection Of Mutations

In the article there were looked some aspects of the knowledge regarding mutations in BRCA1 BRCA2 genes that have been accumulated since the first report on role of these genes in the development of breast and ovarian cancer. Most of them have practical worth related to the detection of mutations, as well as the prevention and treatment of associated ovarian cancer (the article focuses specifically on ovarian cancer, conditioned to relatively less amount of information on this pathology). There has been paid attention to the rational assignment of a genetic test on the presence of mutations in BRCA genes.Keywords: ovarian cancer, mutations in BRCA1 BRCA2 genes, screening of the presence mutations in BRCA1 BRCA2 genes.

Large BRCA1 and BRCA2 genomic rearrangements in Polish high-risk breast and ovarian cancer families

2013 ◽  
Vol 40 (12) ◽  
pp. 6619-6623 ◽  
Author(s):  
Helena Rudnicka ◽  
Tadeusz Debniak ◽  
Cezary Cybulski ◽  
Tomasz Huzarski ◽  
Jacek Gronwald ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Genomic Rearrangements ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
High Risk Breast

scholarly journals Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer

2019 ◽  
pp. 1-14 ◽  
Author(s):  
Christina Adaniel ◽  
Francisca Salinas ◽  
Juan Manuel Donaire ◽  
Maria Eugenia Bravo ◽  
Octavio Peralta ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Genetic Predisposition ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants ◽  
Cancer Program ◽  
Genetic Test Results

PURPOSE Little is known about the genetic predisposition to breast and ovarian cancer among the Chilean population, in particular genetic predisposition beyond BRCA1 and BRCA2 mutations. In the current study, we aim to describe the germline variants detected in individuals who were referred to a hereditary cancer program in Santiago, Chile. METHODS Data were retrospectively collected from the registry of the High-Risk Breast and Ovarian Cancer Program at Clínica Las Condes, Santiago, Chile. Data captured included index case diagnosis, ancestry, family history, and genetic test results. RESULTS Three hundred fifteen individuals underwent genetic testing during the study period. The frequency of germline pathogenic and likely pathogenic variants in a breast or ovarian cancer predisposition gene was 20.3%. Of those patients who underwent testing with a panel of both high- and moderate-penetrance genes, 10.5% were found to have pathogenic or likely pathogenic variants in non- BRCA1/2 genes. CONCLUSION Testing for non- BRCA1 and -2 mutations may be clinically relevant for individuals who are suspected to have a hereditary breast or ovarian cancer syndrome in Chile. Comprehensive genetic testing of individuals who are at high risk is necessary to further characterize the genetic susceptibility to cancer in Chile.

scholarly journals The spectrum of the most common BRCA1/BRCA2 mutations in Lithuanian high risk families

Genetika ◽  
2017 ◽  
Vol 49 (1) ◽  
pp. 43-50
Author(s):  
Danielius Serapinas ◽  
Marius Sukys ◽  
Agne Bartkeviciute ◽  
Diana Barkauskiene ◽  
Daiva Bartkeviciene
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Brca2 Mutation ◽  
Health Science ◽  
University Hospital ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Incidence And Mortality ◽  
Brca2 Mutations ◽  
Brca1 Brca2

Breast cancer is the neoplasm with the highest incidence and mortality among women in Lithuania. The aim of the study was to determine the mutational incidence in BRCA1 and BRCA2 genes in high-risk breast and/or ovarian cancer families. After written informed consent, 36 participants from Lithuanian health science university hospital provided a blood sample for genetic analysis. Molecular diagnostics was done for 6 BRCA1and BRCA2 mutations. From 36 tested subjects for BRCA1/BRCA2 mutations. Positive test for BRCA1/BRCA2 mutations test was found in 12 (33%) cases. Most common BRCA1 mutation was 5328insC - 6 (50%) cases, other mutations: 185delAG - 1 (8,3%), 300t>6(c61G) - 4 (33,3%), 4153 del A - 1 (8,3%). All mutations were BRCA1, but none of the women were positive for the analyzed BRCA2 mutation. The mean age when the cancer was diagnosed in BRCA1 mutations group was 40.40?3.39 comparing with the group without mutations - 43.29 ?2.52. Rates of BRCA1 and BRCA2 mutation testing are increasing in young women with breast and ovarian cancer. Detected mutations in BRCA1 contribute to up to one-third of the families with breast and ovarian cancer in Lithuania.

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