Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia

Mutation analysis of the BRCA1 and BRCA2

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

✍ Kathleen Claes; Eva Machackova; Michel De Vos; Geert Mortier; Anne De Paepe; Lud 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Germline mutations within the adenomatous polyposis coli (APC) gene, a tumor suppressor gene, are responsible for most cases of familial adenomatous polyposis (FAP), an autosomal dominantly inherited predisposition to colorectal cancer. To date, more than 300 germ-line causative mutations within thi