Germline loss-of-function mutations in BRCA1 are associated with a high lifetime risk of breast and ovarian cancer. Most mutations in the gene are 'truncating': in the main these induce premature termination codons, resulting in nonsense-mediated decay, loss of the transcript and/or the entire protein. The improved screening methods now in use across the UK will identify many carriers of unclassified BRCA1 variants. These are chiefly missense mutations, introducing an amino acid change in the context of an expressed protein. Indeed more than one-quarter of entries recorded in the Breast Cancer Information Core dataset of BRCA1 sequence variants collected from patients worldwide are unclassified missense alterations (http://research.nhgri.nih.gov/bic/). Currently, discovery of the majority of missense variants leaves both variant carriers and their families in an ambiguous position.
IdentityOther names: DKFZp686K23225 HGNC (Hugo): RASSF6 Location: 4q13.3 Local order: Centromere-AFP-AFM-RASSF6-IL8-Telomere. Note Brief overview : The RASSF family of tumour suppressor genes (TSG) encode Ras superfamily effector proteins that, amongst other functions, mediate some of the growth inhibitory functions of Ras proteins. Several members of this family are inactivated by promoter DNA hypermethylation in a broad range of cancers, and the RASSF6 gene may be a frequent target of epigenetic inactivation in leukaemias. The RASSF6 protein is involved in the regulation of apoptosis partly by controlling the function of the proapoptotic mammalian serine/threonine kinases 1 and 2 (MST1 and MST2) and modulator of apoptosis 1 (MOAP-1).Figure 1: RASSF6 gene structure. The RASSF6 gene is composed of at least two isoforms that are transcribed from immediately upstream (RASSF6A) or from within (RASSF6B) a small CpG island.
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