Publications:

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Geburtshilfe Und Frauenheilkunde

Wappenschmidt, Barbara B; Hauke, Jan J; Faust, Ulrike U; Niederacher, Dieter D; Wiesmüller, Lisa L; Schmidt, Gunnar G; Groß, Evi E; Gehrig, Andrea A; Sutter, Christian C; Ramser, Juliane J; Rump, Andreas A; Arnold, Norbert N; Meindl, Alfons A

Publication Date: 2020-04

Variant appearance in text: BRCA2: Q2829del

PubMed Link: 32322110

Variant Present in the following documents:

• Main text

View BVdb publication page

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,

Publication Date: 2020-06

Variant appearance in text: BRCA2: Gln2829del

PubMed Link: 32123317

Variant Present in the following documents:

• 41436_2020_766_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.

Human Mutation

Acedo, Alberto A; Hernández-Moro, Cristina C; Curiel-García, Álvaro Á; Díez-Gómez, Beatriz B; Velasco, Eladio A EA

Publication Date: 2015-02

Variant appearance in text: BRCA2: Gln2829del

PubMed Link: 25382762

Variant Present in the following documents:

• humu0036-0210.pdf

View BVdb publication page

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

European Journal Of Human Genetics : Ejhg

Degrolard-Courcet, Emilie E; Sokolowska, Joanna J; Padeano, Marie-Martine MM; Guiu, Séverine S; Bronner, Myriam M; Chery, Carole C; Coron, Fanny F; Lepage, Côme C; Chapusot, Caroline C; Loustalot, Catherine C; Jouve, Jean-Louis JL; Hatem, Cyril C; Ferrant, Emmanuelle E; Martin, Laurent L; Coutant, Charles C; Baurand, Amandine A; Couillault, Gérard G; Delignette, Alexandra A; El Chehadeh, Salima S; Lizard, Sarab S; Arnould, Laurent L; Fumoleau, Pierre P; Callier, Patrick P; Mugneret, Francine F; Philippe, Christophe C; Frebourg, Thierry T; Jonveaux, Philippe P; Faivre, Laurence L

Publication Date: 2014-08

Variant appearance in text: BRCA2: Gln2829del

PubMed Link: 24301060

Variant Present in the following documents:

• Main text

View BVdb publication page