Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

IMPORTANCE: Detection of disease-associated variants in the BRCA1 and BRCA2 (BRCA1/2) genes allows for cancer prevention and early diagnosis in high-risk individuals. OBJECTIVES: To identify pathogenic and likely pathogenic (P/LP) BRCA1/2 variants in an unselected research cohort, and to characteriz...

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Autores principales: Manickam, Kandamurugu, Buchanan, Adam H., Schwartz, Marci L. B., Hallquist, Miranda L. G., Williams, Janet L., Rahm, Alanna Kulchak, Rocha, Heather, Savatt, Juliann M., Evans, Alyson E., Butry, Loren M., Lazzeri, Amanda L., Lindbuchler, D’Andra M., Flansburg, Carroll N., Leeming, Rosemary, Vogel, Victor G., Lebo, Matthew S., Mason-Suares, Heather M., Hoskinson, Derick C., Abul-Husn, Noura S., Dewey, Frederick E., Overton, John D., Reid, Jeffrey G., Baras, Aris, Willard, Huntington F., McCormick, Cara Z., Krishnamurthy, Sarath B., Hartzel, Dustin N., Kost, Korey A., Lavage, Daniel R., Sturm, Amy C., Frisbie, Lauren R., Person, T. Nate, Metpally, Raghu P., Giovanni, Monica A., Lowry, Lacy E., Leader, Joseph B., Ritchie, Marylyn D., Carey, David J., Justice, Anne E., Kirchner, H. Lester, Faucett, W. Andrew, Williams, Marc S., Ledbetter, David H., Murray, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2018
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324494/
https://www.ncbi.nlm.nih.gov/pubmed/30646163
http://dx.doi.org/10.1001/jamanetworkopen.2018.2140

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