We have screened index cases from 25 Russian breast/ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using multiplex heteroduplex analysis. In addition we tested 22 patients with breast cancer diagnosed before age 40 without family history and 6 patie
Collaboration of breast cancer clinic and genetic counseling division for BRCA1 and BRCA2 mutation family in Japan
β Scribed by Motohiro Takeda; Takanori Ishida; Kohji Ohnuki; Akihiko Suzuki; Masato Sakayori; Chikashi Ishioka; Tadashi Nomizu; Shinzaburou Noguchi; Yoichi Matsubara; Noriaki Ohuchi
- Publisher
- Springer Japan
- Year
- 2004
- Tongue
- English
- Weight
- 288 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1340-6868
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## Abstract Index cases from a clinically relevant cohort of 102 Spanish families with at least 3 cases of breast and/or ovarian cancer (at least 1 case diagnosed before age 50) in the same lineage were screened for germline mutations in the entire coding sequence and intron boundaries of the breas
Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. To investigate the presence of BRCA1 and BRCA2
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%)