𝔖 Bobbio Scriptorium
✦   LIBER   ✦

BRCA1 mutations in German breast-cancer families

✍ Scribed by Burkhard Jandrig; Klaus Grade; Susanne Seitz; Beate Waindzoch; Manuela Müller; Erhard Bender; Anita Nothnagel; Klaus Rohde; Peter M. Schlag; Roland Kath; Klaus Höffken; Siegfried Scherneck

Publisher
John Wiley and Sons
Year
1996
Tongue
French
Weight
488 KB
Volume
68
Category
Article
ISSN
0020-7136

No coin nor oath required. For personal study only.

✦ Synopsis

We analyzed germline mutations of the BRCAl gene in 20 German breast/ovarian-cancer families. BRCA I mutations cosegregating with breast-cancer susceptibility were identified in 3 of these families. All mutations were found to generate a premature stop codon leading to the synthesis of truncated BRCAI proteins of different length. Nine polymorphisms were detected in BRCAI. 4 of which have not been described previously. Analysis of familial tumors for LOH revealed that only the disease-related allele of BRCAl was present.

📜 SIMILAR VOLUMES

A novel mutation in the BRCA1 gene in a
A novel mutation in the BRCA1 gene in a German early-onset breast cancer family
✍ Beate Waindzoch; Klaus Grade; Burkhard Jandrig; Manuela Müller; Peter Schlag; Si 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 117 KB 👁 1 views

severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o

BRCA2 germline mutations in Japanese bre
BRCA2 germline mutations in Japanese breast cancer families
✍ Rie Inoue; Toshikazu Ushijima; Takashi Fukutomi; Atsuo Fukami; Haruhiko Sugimura 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 French ⚖ 125 KB 👁 1 views

Germline mutations of BRCA2 were examined in 20 Japanese breast cancer families without BRCA1 mutations, including one demonstrating cancer development in a male. Three different mutations, resulting in truncation of the BRCA2 protein, were detected in 3 different families. They were 9474insA (exon

BRCA1-related breast cancer in Austrian
BRCA1-related breast cancer in Austrian breast and ovarian cancer families: Specific BRCA1 mutations and pathological characteristics
✍ Teresa M. U. Wagner; Regine A. Möslinger; Daniela Muhr; Gudrun Langbauer; Kora H 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 French ⚖ 76 KB 👁 2 views

We identified 17 BRCA1 mutations in 86 Austrian breast and ovarian cancer families (20%) that were screened for mutations by denaturing high-performance liquid chromatography (DHPLC) and the protein truncation test (PTT). Eleven distinct mutations were detected, 4 of them (962del4, 2795del4, 3135del

BRCA1 mutation analysis in 83 Spanish br
BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families
✍ Orland Díez; Joan Cortés; Montserrat Domènech; Joan Brunet; Elisabeth Del Río; C 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 French ⚖ 142 KB 👁 1 views

A group of 83 Spanish BC/OC families were analysed for BRCA1 germ-line mutations. Analysis of the entire coding sequence was carried out by SSCP and PTT. We identified 5 frameshift mutations: 185delAG (2 times), 189insTGTC, 1241delAC, and 5537delA and 3 missense mutations in BRCA1: 330A G G, 1240C G