Results 301 to 310 of about 143,588 (347)
Some of the next articles are maybe not open access.
Identification of BRCA1-IRIS, a BRCA1 locus product
Nature Cell Biology, 2004Breast cancer is the most common malignancy among women, and mutations in the BRCA genes produce increased susceptibility to these malignancies in certain families. Here we identify BRCA1-IRIS as a 1,399-amino-acid BRCA1 gene product encoded by an uninterrupted open reading frame that extends from codon 1 of the known BRCA1 open reading frame to a ...
Wael M, ElShamy, David M, Livingston
openaire +2 more sources
Current Problems in Cancer, 2014
A hereditary breast cancer syndrome can present in a variety of ways ranging from an index case of early-onset breast cancer to an incidental finding during an endoscopy or a dermatological examination. A comprehensive review of the patient’s personal and family history is essential to accurately assess the risk for a hereditary cancer syndrome ...
Kimberly, King-Spohn, Robert, Pilarski
openaire +2 more sources
A hereditary breast cancer syndrome can present in a variety of ways ranging from an index case of early-onset breast cancer to an incidental finding during an endoscopy or a dermatological examination. A comprehensive review of the patient’s personal and family history is essential to accurately assess the risk for a hereditary cancer syndrome ...
Kimberly, King-Spohn, Robert, Pilarski
openaire +2 more sources
Cancer Investigation, 2001
The breast cancer susceptibility gene BRCA1 on chromosome 17q21 encodes an 1863 amino acid protein that is important for normal embryonic development. Germline mutations of this gene are linked to a significantly increased lifetime risk for breast and/or ovarian cancer, and recent studies suggest that the same may be true for prostate cancer.
E M, Rosen, S, Fan, I D, Goldberg
openaire +2 more sources
The breast cancer susceptibility gene BRCA1 on chromosome 17q21 encodes an 1863 amino acid protein that is important for normal embryonic development. Germline mutations of this gene are linked to a significantly increased lifetime risk for breast and/or ovarian cancer, and recent studies suggest that the same may be true for prostate cancer.
E M, Rosen, S, Fan, I D, Goldberg
openaire +2 more sources
BRCA1 regulation of transcription
Cancer Letters, 2006BRCA1, a tumor suppressor gene on chromosome 17q21, was identified in 1994 based on its linkage to hereditary breast and ovarian cancer syndromes. The BRCA1 gene encodes a 220 kDa nuclear phosphoprotein. Studies aimed at elucidating the mechanisms of its tumor suppressor activity have revealed, in part, that BRCA1 participates in the DNA damage ...
Eliot M, Rosen +2 more
openaire +2 more sources
2018
?????????????? ?????????????????? ???????????????? ?? ?????????????????? ?? ???????????????? ???????????????? ?????????? BRCA1. BRCA1 ???????????? ???????????? ???????? ?? ?????????????????????????????? ?????????????????? ?????????????????????????????????? ???????????? (???????????????? ???????????????????? ??????????, ????????????????????????, ????????
openaire +3 more sources
?????????????? ?????????????????? ???????????????? ?? ?????????????????? ?? ???????????????? ???????????????? ?????????? BRCA1. BRCA1 ???????????? ???????????? ???????? ?? ?????????????????????????????? ?????????????????? ?????????????????????????????????? ???????????? (???????????????? ???????????????????? ??????????, ????????????????????????, ????????
openaire +3 more sources
Journal of Cancer Research and Clinical Oncology, 1997
More than 100 mutations have been described for the breast-cancer-susceptibility gene BRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative ...
K, Grade +5 more
openaire +2 more sources
More than 100 mutations have been described for the breast-cancer-susceptibility gene BRCA1. The paper describes phenotypical aspects of three selected mutations located at the beginning, in the middle, and at the end of the gene. A remarkable decrease of the age of diagnosis of the mammary carcinoma is observed with increasing length of the putative ...
K, Grade +5 more
openaire +2 more sources
Transcriptional regulation of BRCA1
1999Abstract : Germline mutations in BRCAl lead to an increased risk of breast and ovarian cancer, with loss of the second, normal allele critical to tumorigenesis. It was widely presumed that the cloning and characterization of genes involved in hereditary breast cancer would lead to a better understanding of the genesis of the more common non-inherited ...
Mary C. King, Shannon R. Payne
openaire +1 more source
Breast Cancer Research and Treatment, 2008
Recent characterization of the mammalian transcriptome has confirmed its predicted complexity, with many loci encoding multiple splice variants and pseudogenes. The breast cancer susceptibility gene BRCA1 is a tumour suppressor gene that produces multiple functional transcripts.
Pettigrew, C. A. +10 more
openaire +5 more sources
Recent characterization of the mammalian transcriptome has confirmed its predicted complexity, with many loci encoding multiple splice variants and pseudogenes. The breast cancer susceptibility gene BRCA1 is a tumour suppressor gene that produces multiple functional transcripts.
Pettigrew, C. A. +10 more
openaire +5 more sources
New England Journal of Medicine, 2010
The cellular machinery that transports BRCA1 protein to sites of DNA repair is critical to DNA integrity. Two recent studies have identified key components of this machinery.
openaire +2 more sources
The cellular machinery that transports BRCA1 protein to sites of DNA repair is critical to DNA integrity. Two recent studies have identified key components of this machinery.
openaire +2 more sources
Breast Disease, 1998
A restricted number of mutant BRCA1 alleles are present at high frequency in the Ashkenazi Jewish population: 185delAG and 5382insC and, perhaps, 188del11. These mutations have provided a means to re-estimate the penetrance function of an abnormal BRCA1 allele to be in the range of 50–60% for breast cancer, and 8–16% not colorectal, cancers in BRCA1 ...
openaire +2 more sources
A restricted number of mutant BRCA1 alleles are present at high frequency in the Ashkenazi Jewish population: 185delAG and 5382insC and, perhaps, 188del11. These mutations have provided a means to re-estimate the penetrance function of an abnormal BRCA1 allele to be in the range of 50–60% for breast cancer, and 8–16% not colorectal, cancers in BRCA1 ...
openaire +2 more sources