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RESEARCH PRODUCT
Additional file 1: of Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
Nana Weber-lassalleJulika BordeKonstantin Weber-lassalleJudit HorvăąthDieter NiederacherNorbert ArnoldSilke KaulfuăCorinna ErnstVictoria PaulEllen HonischKristina KlaschikAlexander VolkChristian KubischSteffen RappNadine LicheyJanine AltmăźllerLouisa LepkesEsther Pohl-rescignoHolger ThielePeter NăźrnbergMirjam LarsenLisa RichtersKerstin RhiemBarbara WappenschmidtChristoph EngelAlfons MeindlRita SchmutzlerEric HahnenJan Haukesubject
description
Table S1. Inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for BRCA1 and BRCA2 germline testing. Table S2. Genotype, phenotype and cancer family history of familial BC index patients carrying heterozygous germline loss-of-function (LoF) variants in the BARD1 gene (transcript NM_000465.3). Table S3. Prevalence of heterozygous germline LoF variants identified in the BARD1 gene (transcript NM_000465.3). Table S4. Potentially damaging rare missense variants identified in the BARD1 gene (transcript NM_000465.3). (DOCX 76 kb)
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2019-01-01 |