Sort   by:  
 Page size 
UnknownCombined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Not available
S-EPMC5081057 | biostudies-literature
UnknownSurvival after bilateral risk-reducing mastectomy in healthy BRCA1 and BRCA2 mutation carriers.
Not available
S-EPMC6745043 | biostudies-literature
UnknownThe BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Not available
S-EPMC5947288 | biostudies-literature
UnknownContralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation.
Not available
S-EPMC10637040 | biostudies-literature
UnknownHeterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
Not available
S-EPMC11586762 | biostudies-literature
UnknownFANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Not available
S-EPMC4550823 | biostudies-literature
UnknownThe predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Not available
S-EPMC8460445 | biostudies-literature
UnknownClinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.
Not available
S-EPMC10749276 | biostudies-literature
UnknownWhole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.
Not available
S-EPMC3568132 | biostudies-literature
UnknownRoutine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Not available
S-EPMC12547740 | biostudies-literature
Sort   by:  
 Page size