نتایج جستجو برای: 6174delt

تعداد نتایج: 65  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
B H Spain C J Larson L S Shihabuddin F H Gage I M Verma

BRCA2 mutations predispose carriers mainly to breast cancer. The vast majority of BRCA2 mutations are predicted to result in a truncated protein product. The smallest known cancer-associated deletion removes from the C terminus only 224 of the 3,418 residues constituting BRCA2, suggesting that these terminal amino acids are crucial for BRCA2 function. A series of green fluorescent protein (GFP)...

Journal: :Vestnik Rossiiskoi akademii meditsinskikh nauk 2014
N V Cherdyntseva L F Pisareva A A Ivanova Ye V Panferova E A Malinovskaya I N Odintsova A V Doroshenko P A Gervas E M Slonimskaya A A Shivit-ool V V Dvornichenko Ye L Choinzonov

BACKGROUND Ethnic diversity of the population in the region of Siberia suggests the existence of different germline mutations in the BRCA1/2 genes associated with breast and ovarian cancer in different ethnic populations, but spectrum of these mutations has not been studied. OBJECTIVE Our aim was to evaluate the frequency of the most common mutations BRCA1/2 (BRCA1 5382insC, BRCA1 185delAG, B...

2015
Abhijit Chakraborty Debolina Banerjee Jayasri Basak Ashis Mukhopadhyay

Breast cancer (BC) is a form of cancer in the glandular breast tissue. In India, women diagnosed with carcinoma of the breast is on an average of 80,000 and women die of this disease every year is 40,000, and it is marked as the second most common cancer among Indian women (19%) after cervical cancer (30%) (Saxena et al. 2006). For the development of breast and ovarian cancers there may be seve...

Journal: :Cancer genetics and cytogenetics 2006
Lilian Jara Sandra Ampuero Eudocia Santibáñez Lorena Seccia Juan Rodríguez Mario Bustamante Víctor Martínez Alejandra Catenaccio Guillermo Lay-Son Rafael Blanco José Miguel Reyes

A sample of 64 high-risk breast and/or ovarian cancer families from Chile were screened for germline mutations in the coding sequences and exon-intron boundaries of BRCA1 (MIN no. 113705) and BRCA2 (MIN no. 600185) genes using conformation-sensitive gel electrophoresis, and the mutations found were confirmed with direct sequencing. Seven families (10.9%) were found to carry BRCA1 mutations and ...

2017
Limor Helpman Omri Zidan Eitan Friedman Sarit Kalfon Tamar Perri Gilad Ben-Baruch Jacob Korach

OBJECTIVE The current study investigates disease patterns and outcomes in young Israeli epithelial ovarian cancer (EOC) patients and their association with BRCA mutation status. METHODS Consecutive EOC patients diagnosed at or below 50 years in a single institution between 1995-2011 were identified. All patients are referred for genetic counseling and testing for the predominant Jewish BRCA m...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید