2 documents found, page 1 of 1
Genotype-first approach to identify associations between CDH1 germline variants...
Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre dos Santos; Garrido, Luzia; Castedo, Sérgio; Sousa, SóniaBackground Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier individuals to diffuse gastric and lobular breast cancer. Rare CDH1 missense variants are often classified as variants of unknown significance. We conducted a genotype– phenotype analysis in families carrying rare CDH1 variants, comparing cancer s...
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 ...
Maia, Ana-Teresa; Antoniou, Antonis C.; O'Reilly, Martin; Samarajiwa, Shamith; Dunning, Mark; Kartsonaki, Christiana; Chin, Suet-FeungIntroduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele. We have previously reported that BRCA2 shows differential allelic expression and we hypothesize that the known variable penetrance of BRCA2 mutations might be associated with this mechanis...