𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania

✍ Scribed by Ramūnas Janavičius; Ingrida Pepalytė; Vaidutis Kučinskas


Publisher
Springer US
Year
2008
Tongue
English
Weight
159 KB
Volume
117
Category
Article
ISSN
0167-6806

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel germline BRCA1 and BRCA2 mutations
✍ Eva Machackova; Jiri Damborsky; Dalibor Valik; Lenka Foretova 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 3 views

## Communicated by Mark H. Paalman Germline mutations in breast cancer susceptibility genes, BRCA1 and BRCA2, are responsible for a substantial proportion of high-risk breast and breast/ovarian cancer families. To characterize the spectrum of BRCA1 and BRCA2 mutations, we screened Czech families w

BRCA1 and BRCA2 mutations in breast/ovar
✍ L. Stuppia; P. Di Fulvio; G. Aceto; S. Pintor; S. Veschi; V. Gatta; A. Colosimo; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 2 views

We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT, and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each investigated proband, the probability of being carrier of a BRCA1/BRCA2 mutation was evaluated using the BRCAPRO software.

BRCA2 germline mutations in Cypriot pati
✍ Andreas Hadjisavvas; Elpida Charalambous; Adamos Adamou; Christina G. Christodou 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 2 views

Germline mutations in the BRCA2 gene have been shown to be associated with familial female and male breast cancer. Mutations occur throughout the entire coding region of the gene, and there is considerable ethnic and geographical diversity in the deleterious mutations detected in different populatio

BRCA1 and BRCA2 mutation analysis in bre
✍ Magdalena Perkowska; Izabela BroŻek; Barbara Wysocka; Karin Haraldsson; Therese 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

Sixty high-risk breast and/or ovarian cancer families from North-Eastern Poland were screened for germline mutations in BRCA1 (MIM# 113705) and BRCA2 (MIM# 600185), using a combination of protein truncation test, denaturing high-performance liquid chromatography and direct sequencing. Sixteen (27%)