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Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants

Autor: Thomassen, M., Mesman, R.L.S., Hansen, T.V.O., Menendez, M., Rossing, M., Esteban-Sanchez, A., Tudini, E., Torngren, T., Parsons, M.T., Pedersen, I.S., Teo, S.H., Kruse, T.A., Moller, P., Borg, A., Jensen, U.B., Christensen, L.L., Singer, C.F., Muhr, D., Santamarina, M., Brandao, R., Andresen, B.S., Feng, B.J., Canson, D., Richardson, M.E., Karam, R., Pesaran, T., LaDuca, H., Conner, B.R., Abualkheir, N., Hoang, L., Calleja, F.M.G.R., Andrews, L., James, P.A., Bunyan, D., Hamblett, A., Radice, P., Goldgar, D.E., Walker, L.C., Engel, C., Claes, K.B.M., Machackova, E., Baralle, D., Viel, A., Wappenschmidt, B., Lazaro, C., Vega, A., Vreeswijk, M.P.G., Hoya, M. de la, Spurdle, A.B., ENIGMA Consortium

Publikováno v: HUMAN MUTATION
Human Mutation: Variation, Informatics and Disease, 43(12), 1921-1944. WILEY-HINDAWI
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, Vreeswijk, M P G, de la Hoya, M, Spurdle, A B & ENIGMA Consortium 2022, ' Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449
Human Mutation, 43(12), 1921-1944. Wiley
Thomassen, M, Mesman, R L S, Hansen, T V O, Menendez, M, Rossing, M, Esteban-Sánchez, A, Tudini, E, Törngren, T, Parsons, M T, Pedersen, I S, Teo, S H, Kruse, T A, Møller, P, Borg, Å, Jensen, U B, Christensen, L L, Singer, C F, Muhr, D, Santamarina, M, Brandao, R, Andresen, B S, Feng, B-J, Canson, D, Richardson, M E, Karam, R, Pesaran, T, LaDuca, H, Conner, B R, Abualkheir, N, Hoang, L, Calléja, F M G R, Andrews, L, James, P A, Bunyan, D, Hamblett, A, Radice, P, Goldgar, D E, Walker, L C, Engel, C, Claes, K B M, Macháčková, E, Baralle, D, Viel, A, Wappenschmidt, B, Lazaro, C, Vega, A, ENIGMA consortium, Vreeswijk, M P G, de la Hoya, M & Spurdle, A B 2022, ' Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants : application of a points-based ACMG/AMP approach ', Human Mutation, vol. 43, no. 12, pp. 1921-1944 . https://doi.org/10.1002/humu.24449

Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splice event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exo

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