scholarly journals Recommended Extension of Indication Criteria for Genetic Testing of BRCA1 and BRCA2 Mutations in Hereditary Breast and Ovarian Cancer Syndrome

2016 ◽  
Vol 29 (Suppl 1) ◽  
pp. S9-S13 ◽  
Author(s):  
Lenka Foretová ◽  
Eva Macháčková ◽  
Markéta Palácová ◽  
Marie Navrátilová ◽  
Marek Svoboda ◽  
...  
2006 ◽  
Vol 5 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Olga M. Sinilnikova ◽  
Sylvie Mazoyer ◽  
Colette Bonnardel ◽  
Henry T. Lynch ◽  
Steven A. Narod ◽  
...  

2015 ◽  
Vol 14 (4) ◽  
pp. 505-513 ◽  
Author(s):  
Inmaculada de Juan ◽  
Sarai Palanca ◽  
Asunción Domenech ◽  
Lidia Feliubadaló ◽  
Ángel Segura ◽  
...  

2002 ◽  
Vol 71 (3) ◽  
pp. 595-606 ◽  
Author(s):  
Alexander Liede ◽  
Imtiaz A. Malik ◽  
Zeba Aziz ◽  
Patricia de los Rios ◽  
Elaine Kwan ◽  
...  

2019 ◽  
pp. 1-14 ◽  
Author(s):  
Christina Adaniel ◽  
Francisca Salinas ◽  
Juan Manuel Donaire ◽  
Maria Eugenia Bravo ◽  
Octavio Peralta ◽  
...  

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.


2016 ◽  
Vol 209 (9) ◽  
pp. 417-422 ◽  
Author(s):  
Bárbara Alemar ◽  
Josef Herzog ◽  
Cristina Brinckmann Oliveira Netto ◽  
Osvaldo Artigalás ◽  
Ida Vanessa D. Schwartz ◽  
...  

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