A frame-shift 9254del5 mutation was independently identified in 12 families, eleven of them with Spanish ancestors, in a BRCA2 screening performed in 841 breast and/or ovarian cancer families and in 339 women with breast cancer diagnosed before the age of 40 at different centers in France and Spain.
Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study
✍ Scribed by Susan L. Neuhausen; Andrew K. Godwin; Ruth Gershoni-Baruch; Elizabeth Schubert; Judy Garber; Dominique Stoppa-Lyonnet; Edith Olah; Bela Csokay; Olga Serova; Fiona Lalloo; Ana Osorio; Michael Stratton; Kenneth Offit; Jeff Boyd; M. Adelaide Caligo; Rodney J. Scott; Andy Schofield; Eric Teugels; Manfred Schwab; Lisa Cannon-Albright; Timothy Bishop; Douglas Easton; Javier Benitez; Mary-Claire King; Bruce A.J. Ponder; Barbara Weber; Peter Devilee; Åke Borg; Steven A. Narod; David Goldgar
- Book ID
- 117852433
- Publisher
- American Society of Human Genetics
- Year
- 1998
- Tongue
- English
- Weight
- 107 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/301885
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Germ-line mutations in CDKN2A have been shown to predispose to cutaneous malignant melanoma. We have identified 2 new melanoma kindreds which carry a duplication of a 24bp repeat present in the 5' region of CDKN2A previously identified in melanoma families from Australia and the United States. This
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