BRCA1 mutations and phenotype.

More than 100 mutations have been described for the breast-cancer-susceptibility gene BRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative gene product, combined with greater severity of the disease.

BRCA1 mutations in German breast-cancer families.

We analyzed germline mutations of the BRCA1 gene in 20 German breast/ovarian-cancer families. BRCA1 mutations co-segregating with breast-cancer susceptibility were identified in 3 of these families. All mutations were found to generate a premature stop codon leading to the synthesis of truncated BRCA1 proteins of different length.

BRCA1 mutation update and analysis.

The discovery of the BRCA1 gene involved in the development of human hereditary breast cancer led to extensive international efforts to identify the mutations leading to the disease. The new listing covers 127 mutations published in the indicated papers before 30 April 1996; 55% of the mutations are localized in exon 11, followed by exons 2 (5.5%), 5 and 16 (4.

Identification of three novel mutations in the CFTR gene using temperature-optimized non-radioactive conditions for SSCP analysis.

Optimal temperature conditions for the detection of 28 known mutations on 15 exons of the human cystic fibrosis transmembrane conductance regulator gene by single strand conformation polymorphism analysis using the Diagen TGGE Apparatus were established. This procedure was applied to the detection of unknown mutations in 58 non-deltaF508 chromosomes. Three novel mutations, -471del3 (5' flanking region), 3171insC (exon 17a) and 4700(T)8/9 (3' non-translated region) of the CFTR gene were found.