Results 171 to 180 of about 113,876 (211)

Functions of the BRCA1 and BRCA2 genes

Current Opinion in Genetics & Development, 1998
Mutations in the BRCA1 and BRCA2 genes confer a high risk of breast cancer development. Both genes encode very large proteins of unknown function but recent results suggest that they may have roles in transcriptional regulation and DNA repair. These advances offer the prospect of understanding not only the normal cellular function of these genes but ...
D, Bertwistle, A, Ashworth
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BRCA1 Gene Sequence Variation in Centenarians

Annals of the New York Academy of Sciences, 2001
Abstract: With the ample gene sequence information that has become available with the human genome project virtually completed, it has become possible to identify functional gene variants and their frequencies in elderly populations with different aging‐related characteristics.
J, Vijg, T, Perls, C, Franceschi, N J, van Orsouw   +3 more
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Ovarian cancer predisposition beyond BRCA1 and BRCA2 genes

International Journal of Gynecological Cancer, 2020
Several genes associated with hereditary ovarian cancer have been discovered as a result of the work done with next generation sequencing. It is estimated that approximately 23% of ovarian carcinomas have a hereditary predisposition. The most common hereditary condition is represented by germline mutations in BRCA1 or BRCA2 genes that account for 20-25%
Pietragalla A., Arcieri M., Marchetti C., Scambia G., Fagotti A.   +4 more
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The BRCA1 and BRCA2 breast cancer genes

Current Opinion in Oncology, 1997
Between 5% and 10% of breast cancer cases result from an inherited predisposition. The majority of hereditary forms of breast and ovarian cancer can be accounted for by mutations in two recently identified genes, BRCA1 and BRCA2. Inactivating mutations have been found throughout both genes, and the majority are predicted to result in truncated proteins.
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Novel complex genomic rearrangement of the BRCA1 gene

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2008
Initial BRCA1 and BRCA2 analyses conducted in breast and ovarian cancer families were focused on identification of mutations in coding sequences and splicing sites of the genes. Large genomic rearrangements as well as mutations in promoter or untranslated regions have been missed by standard detection strategies.
Michal, Zikan, Petr, Pohlreich, Jana, Stribrna, Zdenek, Kleibl, David, Cibula   +4 more
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Premature Menopause in Patients with BRCA1 Gene Mutation

Breast Cancer Research and Treatment, 2006
This study was undertaken with regard to the gonadotropin theory of ovarian cancer advocated in the literature and was designed to disclose specific features of ovarian morphology in carriers of the BRCA1 gene mutation. We enrolled 171 patients and divided them into two groups: A (n=90)--operated for breast cancer (30 patients with and 60 without the ...
Izabella, Rzepka-Górska, Bogusław, Tarnowski, Anita, Chudecka-Głaz, Bohdan, Górski, Dorota, Zielińska, Aleksandra, Tołoczko-Grabarek   +5 more
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Uninterrupted Sedentary Behavior Downregulates BRCA1 Gene Expression

Cancer Prevention Research, 2016
Abstract BRCA1 mutation carriers face a high lifetime risk of developing breast cancer. Physical activity induces broad transcriptional changes, and multiple studies have documented its beneficial effects across cancers. Because haploinsufficiency predisposes to breast cancer in these women, factors that increase BRCA1 levels may ...
Rachael, Pettapiece-Phillips, Max, Kotlyar, Rania, Chehade, Leonardo, Salmena, Steven A, Narod, Mohammad, Akbari, Igor, Jurisica, Joanne, Kotsopoulos   +7 more
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Ovarian Cancer Gene Therapy with BRCA1–An Overview

2003
The human breast and ovarian cancer susceptibility gene BRCA1 is a tumorsuppressor gene which is mutated and lost in hereditary breast and ovarian cancer, and has both alleles mutated in approximately 10-15% of cases of sporadic ovarian cancer. Studies of chromosome loss in ovarian cancer show that at least one allele of the BRCA1 gene is lost or ...
P S, Obermiller, J T, Holt
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Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women

Journal of Cancer Research and Clinical Oncology, 2009
BRCA1-interacting protein C-terminal helicase 1 (BRIP1) and zinc finger protein 350 (ZNF350) work with BRCA1 in tumor suppression procedures. Low penetrance variants of these three genes may jointly affect individuals' breast cancer susceptibility in general population.We focused on potentially functional single nucleotide polymorphisms (SNPs) in the ...
Xiang, Huo, Cheng, Lu, Xinen, Huang, Zhibin, Hu, Guangfu, Jin, Hongxia, Ma, Xuechen, Wang, Jianwei, Qin, Xinru, Wang, Hongbing, Shen, Jinhai, Tang   +10 more
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A human BRCA1 gene knockout

Nature, 1995
M, Boyd, F, Harris, R, McFarlane, H R, Davidson, D M, Black   +4 more
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