Germline RAD51C mutations confer susceptibility to ovarian cancer/Meindl et al. reply
Functional and conservation data can be useful in the evaluation of variants, but in vitro functional effects do not necessarily imply that the variant has clinical sequelae. [...]as we and others have shown (for example, in studies of the breast cancer susceptibility genes BRIP1 and ATM), such an a...
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| Veröffentlicht in: | Nature genetics 2012-05, Vol.44 (5), p.475 |
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| container_title | Nature genetics |
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| creator | Loveday, Chey Turnbull, Clare Ruark, Elise Xicola, Rosa Maria Munoz Ramsay, Emma Hughes, Deborah Warren-Perry, Margaret Snape, Katie Eccles, Diana Evans, D Gareth Gore, Martin Renwick, Anthony Seal, Sheila Antoniou, Antonis C Rahman, Nazneen Meindl, Alfons Eirich, Katharina Engert, Stefanie Becker, Alexandra Endt, Daniela Ditsch, Nina Schmutzler, Rita K Schindler, Detlev |
| description | Functional and conservation data can be useful in the evaluation of variants, but in vitro functional effects do not necessarily imply that the variant has clinical sequelae. [...]as we and others have shown (for example, in studies of the breast cancer susceptibility genes BRIP1 and ATM), such an assumption can result in incorrect attribution of pathogenicity14,15. [...]most of the variants discussed here are predicted to affect amino-acid residues conserved in at least three of the five RAD51 paralogs, and the effects of the variants have been characterized by functional approaches. |
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[...]as we and others have shown (for example, in studies of the breast cancer susceptibility genes BRIP1 and ATM), such an assumption can result in incorrect attribution of pathogenicity14,15. 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| subjects | Breast cancer Genes Mutation Ovarian cancer |
| title | Germline RAD51C mutations confer susceptibility to ovarian cancer/Meindl et al. reply |
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