A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Détails

ID Serval
serval:BIB_3541675DF485
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
Périodique
Science
Auteur(s)
Miki  Y., Swensen  J., Shattuck-Eidens  D., Futreal  P. A., Harshman  K., Tavtigian  S., Liu  Q., Cochran  C., Bennett  L. M., Ding  W., Bell  R., Rosenthal  J., Hussey  C., Tran  T., Mcclure  M., Frye  C., Hattier  T., Phelps  R., Haugenstrano  A., Katcher  H., Yakumo  K., Gholami  Z., Shaffer  D., Stone  S., Bayer  S., Wray  C., Bogden  R., Dayananth  P., Ward  J., Tonin  P., Narod  S., Bristow  P. K., Norris  F. H., Helvering  L., Morrison  P., Rosteck  P., Lai  M., Barrett  J. C., Lewis  C., Neuhausen  S., Cannonalbright  L., Goldgar  D., Wiseman  R., Kamb  A., Skolnick  M. H.
ISSN
0036-8075 (Print)
Statut éditorial
Publié
Date de publication
10/1994
Volume
266
Numéro
5182
Pages
66-71
Notes
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Oct 7
Résumé
A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.
Mots-clé
Alleles Alternative Splicing Amino Acid Sequence Animals BRCA1 Protein Breast Neoplasms/*genetics *Chromosomes, Human, Pair 17 Female *Genes, Tumor Suppressor Genetic Predisposition to Disease Germ-Line Mutation Haplotypes Humans Lod Score Male Molecular Sequence Data *Mutation Neoplasm Proteins/chemistry/*genetics/physiology Ovarian Neoplasms/*genetics Pedigree Phenotype Transcription Factors/chemistry/*genetics/physiology Zinc Fingers
Pubmed
Web of science
Open Access
Oui
Création de la notice
24/01/2008 16:33
Dernière modification de la notice
20/08/2019 14:22
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