Population genetic screening efficiently identifies carriers of autosomal dominant diseases

Autor:	J J, Grzymski, G, Elhanan, J A, Morales Rosado, E, Smith, K A, Schlauch, R, Read, C, Rowan, N, Slotnick, S, Dabe, W J, Metcalf, B, Lipp, H, Reed, L, Sharma, E, Levin, J, Kao, M, Rashkin, J, Bowes, K, Dunaway, A, Slonim, N, Washington, M, Ferber, A, Bolze, J T, Lu
Rok vydání:	2019
Předmět:	Adult Hyperlipoproteinemia Type II Heterozygote Genetics Population Adolescent Genetic Carrier Screening Hereditary Breast and Ovarian Cancer Syndrome Humans Female Genetic Testing Middle Aged Colorectal Neoplasms Hereditary Nonpolyposis Aged
Zdroj:	Nature medicine. 26(8)
ISSN:	1546-170X
Popis:	Three inherited autosomal dominant conditions-BRCA-related hereditary breast and ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH)-have been termed the Centers for Disease Control and Prevention Tier 1 (CDCT1) genetic conditions, for which early identification and intervention have a meaningful potential for clinical actionability and a positive impact on public health
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::687f18d4eb839da058d107db50d75ac8 https://pubmed.ncbi.nlm.nih.gov/32719484 Zobrazit plný text záznamu Full text from SpringerLink