RESUMEN
In 2001, genetic testing for BRCA1 and BRCA2 was introduced in Ontario, for women at high-risk of breast or ovarian cancer. To date over 30,000 individuals have been tested throughout Ontario. Testing was offered to all Ontario residents who were eligible under any of 13 criteria. We report the results of tests conducted at Mount Sinai Hospital from 2007 to 2014. A total of 4726 individuals were tested, 764 (16.2%) were found to carry a pathogenic variant (mutation). Among 3684 women and men who underwent testing without a known familial BRCA mutation, 331 (9.0%) were found to carry a mutation. Among 1042 women and men tested for a known family mutation, 433 (41.6%) were positive. There were 603 female mutation carriers, of these, 303 were affected with breast or ovarian cancer (50%) and 16 with another cancer (2.3%). Of 284 unaffected female carriers, 242 (85%) were tested for a known family mutation and 42 (15%) were the first person in the family to be tested. By placing greater emphasis on recruiting unaffected female relatives of known mutation carriers for testing, greater than one-half of newly identified carriers will be unaffected.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Mutación , Adulto , Neoplasias de la Mama/genética , Neoplasias de la Mama/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Ontario , Neoplasias Ováricas/genética , Neoplasias Ováricas/metabolismoRESUMEN
Genetic testing for BRCA1 and BRCA2 gene mutations, in conjunction with preventive salpingo-oophorectomy for mutation carriers, may be used to prevent a proportion of invasive ovarian cancers ('personalized medicine'). We evaluated the potential utility of this approach at a population level by reviewing the pedigree information and genetic test results from 1342 ovarian cancer patients in Ontario. Of the 1342 patients tested, 176 patients had a BRCA1 or BRCA2 mutation; of these, 48 women would have qualified for testing prior to the development of cancer based on the eligibility criteria in place for the province of Ontario. In summary, 48 of 1342 unselected cases of ovarian cancer (3.6%) might have been prevented if genetic testing criteria were universally applied to all women in Ontario at risk for ovarian cancer.
Asunto(s)
Pruebas Genéticas/métodos , Neoplasias Ováricas/genética , Neoplasias Ováricas/prevención & control , Adulto , Anciano , Femenino , Genes BRCA1 , Genes BRCA2 , Predisposición Genética a la Enfermedad , Genética de Población , Humanos , Persona de Mediana Edad , Mutación , Factores de Riesgo , Adulto JovenRESUMEN
HostSeq was launched in April 2020 as a national initiative to integrate whole genome sequencing data from 10,000 Canadians infected with SARS-CoV-2 with clinical information related to their disease experience. The mandate of HostSeq is to support the Canadian and international research communities in their efforts to understand the risk factors for disease and associated health outcomes and support the development of interventions such as vaccines and therapeutics. HostSeq is a collaboration among 13 independent epidemiological studies of SARS-CoV-2 across five provinces in Canada. Aggregated data collected by HostSeq are made available to the public through two data portals: a phenotype portal showing summaries of major variables and their distributions, and a variant search portal enabling queries in a genomic region. Individual-level data is available to the global research community for health research through a Data Access Agreement and Data Access Compliance Office approval. Here we provide an overview of the collective project design along with summary level information for HostSeq. We highlight several statistical considerations for researchers using the HostSeq platform regarding data aggregation, sampling mechanism, covariate adjustment, and X chromosome analysis. In addition to serving as a rich data source, the diversity of study designs, sample sizes, and research objectives among the participating studies provides unique opportunities for the research community.