𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

✍ Scribed by Gayther, Simon A.; Warren, William; Mazoyer, Sylvie; Russell, Paul A.; Harrington, Patricia A.; Chiano, Mathias; Seal, Sheila; Hamoudi, Rifat; van Rensburg, Elizabeth J.; Dunning, Alison M.


Book ID
109918889
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
739 KB
Volume
11
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel germline mutations in the BRCA1 an
✍ Mani T. Valarmathi; Meenakshi Sawhney; Suryanarayana S. V. Deo; Nootan K. Shukla 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 97 KB 👁 2 views

The two major hereditary breast/ovarian cancer predisposition tumor suppressor genes, BRCA1 and BRCA2 that perform apparently generic cellular functions nonetheless cause tissue-specific syndromes in the human population when they are altered, or mutated in the germline. However, little is known abo

Germline mutations of the BRCA1-associat
✍ Chiara Ghimenti; Elisa Sensi; Silvano Presciuttini; Isa Maura Brunetti; PierFran 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 188 KB 👁 3 views

## Abstract BARD1 (BRCA1‐associated RING domain) was identified by yeast two‐hybrid screening as a protein interacting with BRCA1. Somatic and germline mutations of __BARD1__ have been detected in sporadic breast, ovarian, and endometrial cancers. The present study represents the first description

German family study on hereditary breast
✍ Ute Hamann; Hiltrud Brauch; Alex M. Garvin; Gunther Bastert; Rodney J. Scott 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB 👁 3 views

Women harboring BRCA1 germline mutations carry an 85% lifetime risk of developing breast cancer and a 63% risk of ovarian cancer. In this first systematic study of familial breast and/or ovarian cancer in Germany we investigated 29 families for germline mutations in the BRCA1 gene. We identified mut

Mutations and alternative splicing of th
✍ Chun-Fang Xu; Julie A. Chambers; Hans Nicolai; Melissa A. Brown; Yasir Hujeirat; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB 👁 3 views

BRCA1 is a tumour suppressor gene located on chromosome band 17q21. It is estimated that mutations in the BRCA1 gene account for approximately 45% of the breast cancer families and almost all of the breast/ovarian cancer families. We have used single strand conformation polymorphism analysis, direct