The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population

The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the population. The coding sequence and splice site boundaries of all six genes were amplified in germline DNA from 2240 invasive...

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Vydané v:	Human molecular genetics Ročník 23; číslo 17; s. 4703
Hlavní autori:	Song, Honglin, Cicek, Mine S, Dicks, Ed, Harrington, Patricia, Ramus, Susan J, Cunningham, Julie M, Fridley, Brooke L, Tyrer, Jonathan P, Alsop, Jennifer, Jimenez-Linan, Mercedes, Gayther, Simon A, Goode, Ellen L, Pharoah, Paul D P
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	England 01.09.2014
Predmet:	Adult Age of Onset Aged BRCA1 Protein - genetics BRCA2 Protein - genetics DNA Mismatch Repair - genetics Female Genetic Predisposition to Disease Germ-Line Mutation - genetics Humans Middle Aged Mutation, Missense - genetics Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Risk Factors Young Adult
ISSN:	1460-2083, 1460-2083
On-line prístup:	Zistit podrobnosti o prístupe
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