Rare mutations in RINT1 predispose carriers to breast and Lynch Syndrome-spectrum cancers

Approximately half of the familial aggregation of breast cancer remains unexplained. A multiple-case breast cancer family exome sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930.4) not present in public sequencing databases: RINT1 c.343C>T (p.Q115X), c.1132_1134del...

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Bibliografiske detaljer
Udgivet i:Cancer Discov
Main Authors: Park, Daniel J., Tao, Kayoko, Le Calvez-Kelm, Florence, Nguyen-Dumont, Tu, Robinot, Nivonirina, Hammet, Fleur, Odefrey, Fabrice, Tsimiklis, Helen, Teo, Zhi L., Thingholm, Louise B., Young, Erin L., Voegele, Catherine, Lonie, Andrew, Pope, Bernard J., Roane, Terrell C., Bell, Russell, Hu, Hao, Shankaracharya, Huff, Chad D., Ellis, Jonathan, Li, Jun, Makunin, Igor V., John, Esther M., Andrulis, Irene L., Terry, Mary B., Daly, Mary, Buys, Saundra S., Snyder, Carrie, Lynch, Henry T., Devilee, Peter, Giles, Graham G., Hopper, John L., Feng, Bing J., Lesueur, Fabienne, Tavtigian, Sean V., Southey, Melissa C., Goldgar, David E.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4234633/
https://ncbi.nlm.nih.gov/pubmed/25050558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/2159-8290.CD-14-0212
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