Results 1 to 10 of about 72,678 (220)

BRCA2 gene mutation in cancer

Medicine, 2022
Breast cancer susceptibility gene 2 (BRCA2) is the main gene associated with hereditary breast cancers. However, a mutation in BRCA2 has also been found in other tumors, such as ovarian, pancreatic, thyroid, gastric, laryngeal, and prostate cancers. In this review, we discuss the biological functions of BRCA2 and the role of BRCA2 mutations in tumor ...
Chunbao Xie, Jiangrong Luo, Yangjun He, Lingxi Jiang, Ling Zhong, Yi Shi   +5 more
openaire   +2 more sources

A misquoted mutation in exon16 of the BRCA2 gene [PDF]

Journal of Human Genetics, 2006
A pathogenic mutation in the BRCA2 gene, nt7602del16, has been misquoted as a mutation, possibly due to the incorrect inclusion of the last 16 nucleotides of exon15 of the BRCA2 gene as part of the intron15-exon16 BRCA2 gene sequence in publicly available databases.
Kataki, A., Derventzi, A., Gomatos, I., Konstadoulakis, M.M.   +3 more
openaire   +3 more sources

Rapid Evolution of BRCA1 and BRCA2 in Humans and Other Primates [PDF]

, 2014
The maintenance of chromosomal integrity is an essential task of every living organism and cellular repair mechanisms exist to guard against insults to DNA.
Demogines, Ann M., Le, Uyen Q., Lou, Dianne I., McBee, Ross M., Sawyer, Sara L., Stone, Anne C., Wilkerson, Gregory K.   +6 more
core   +3 more sources

Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer [PDF]

, 2002
BACKGROUND: Breast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified
Dalton, Ann, Harirchi, Iraj, Hornby, David P., Jarvandi, Soghra, Mohagheghi, Mohammad A., Yassaee, Vahid R., Zeinali, Sirous   +6 more
core   +2 more sources

Identification of the breast cancer susceptibility gene BRCA2 [PDF]

Nature, 1995
In Western Europe and the United States approximately 1 in 12 women develop breast cancer. A small proportion of breast cancer cases, in particular those arising at a young age, are attributable to a highly penetrant, autosomal dominant predisposition to the disease.
Richard Wooster, Graham Bignell, Jonathan Lancaster, Sally Swift, Sheila Seal, Jonathan Mangion, Nadine Collins, Simon Gregory, Curtis Gumbs, Gos Micklem, Rita Barfoot, Rifat Hamoudi, Sandeep Patel, Catherine Rices, Patrick Biggs, Yasmin Hashim, Amanda Smith, Frances Connor, Adalgeir Arason, Julius Gudmundsson, David Ficenec, David Kelsell, Deborah Ford, Patricia Tonin, D. Timothy Bishop, Nigel K. Spurr, Bruce A. J. Ponder, Rosalind Eeles, Julian Peto, Peter Devilee, Cees Cornelisse, Henry Lynch, Steven Narod, Gilbert Lenoir, Valdgardur Egilsson, Rosa Bjork Barkadottir, Douglas F. Easton, David R. Bentley, P. Andrew Futreal, Alan Ashworth, Michael R. Stratton   +40 more
openaire   +2 more sources

Complex-based analysis of dysregulated cellular processes in cancer [PDF]

, 2014
Background: Differential expression analysis of (individual) genes is often used to study their roles in diseases. However, diseases such as cancer are a result of the combined effect of multiple genes.
Khanna, Kum Kum, Liu, Chao, Madhamshettiwar, Piyush B., Ragan, Mark A., Simpson, Peter T., Song, Sarah, Srihari, Sriganesh   +6 more
core   +1 more source

Is Lactate an Oncometabolite? Evidence Supporting a Role for Lactate in the Regulation of Transcriptional Activity of Cancer-Related Genes in MCF7 Breast Cancer Cells. [PDF]

, 2019
Lactate is a ubiquitous molecule in cancer. In this exploratory study, our aim was to test the hypothesis that lactate could function as an oncometabolite by evaluating whether lactate exposure modifies the expression of oncogenes, or genes encoding ...
Brooks, George A, Julian, Colleen G, Martinez, Janel, Matarazzo, Christopher, San-Millán, Iñigo   +4 more
core   +1 more source

BRCA1 and BRCA2 as ovarian cancer susceptibility genes [PDF]

Carcinogenesis, 2005
Individuals carrying germline mutations in one allele of the BRCA1 or BRCA2 genes are at significantly increased risk of developing cancer. Although the increased risk of breast cancer is often highlighted, cancer at several other sites is also considerably more common in these individuals.
Heidi M, Sowter, Alan, Ashworth
openaire   +2 more sources

Clues to the Function of the Tumour Susceptibility Gene BRCA2 [PDF]

Disease Markers, 1998
The breast cancer susceptibility gene BRCA2 was isolated in 1995. BRCA2 is a large gene comprising 10,254 nucleotides and 26 coding exons. Neither the nucleotide nor the predicted protein sequences (comprising 3,418 amino acids) have provided substantial clues about its function. As a result, researchers have been trying to elucidate the function using
Gayther, Simon A., Ponder, Bruce A. J.
openaire   +2 more sources

Founder mutations in BRCA1 and BRCA2 genes

Annals of Oncology, 2007
BRCA1 and BRCA2 germline mutations contribute to a significant number of familial and hereditary breast and/or ovarian cancers. The proportion of high-risk families with breast and/or ovarian cancer cases due to mutations in these tumor suppressor genes varies widely among populations.
FERLA, Rita, CALO', Valentina, CASCIO, Sandra, RINALDI, G, BADALAMENTI, Giuseppe, CARRECA, Ignazio, SURMACZ, E, COLUCCI, G, BAZAN, Viviana, RUSSO, Antonio   +9 more
openaire   +3 more sources