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Indicators and Treatment for Breast Disease
Indicators and Treatment for Breast Disease

CE Update
CE Update

American Cancer Society Guidelines for Breast Screening with MRI
American Cancer Society Guidelines for Breast Screening with MRI

... approaches have used lower doses of radiation and limited-field radiotherapy. In one study, which compared patients who received radiation therapy in 1966 to 1974 and 1975 to 1985, treatment in the later timeframe was not related to increased risk of breast cancer after a median follow up of 13 year ...
Original Article The mRNA level of MLH1 in peripheral blood is a
Original Article The mRNA level of MLH1 in peripheral blood is a

to the Directory of Services
to the Directory of Services

View a Sample Chapter
View a Sample Chapter

Genesis Breast Cancer Prevention Centre
Genesis Breast Cancer Prevention Centre

... Genesis have always had breast cancer risk determination and prevention as the major focus of their research agenda since the inception of the charity in 1996. It is pleasing to see that other major research-based breast cancer charities are now also putting risk determination and prevention at the ...
What is Breast Cancer?
What is Breast Cancer?

... Breast cancer is a disease where cells in the breast tissue divide and grow without normal controls. ...
Functional Characterization of MutS Homologue Mismatch
Functional Characterization of MutS Homologue Mismatch

Magnetic Resonance Imaging of the Breast
Magnetic Resonance Imaging of the Breast

... reduce repeat excision surgery. Orel et al11 determined that MRI has a high (82%) positive predictive value for predicting residual disease after initial excisional biopsy. In this study of 47 patients, MRI found 9 instances of multifocal or diffuse disease that were not seen on mammography. In pati ...
Epidemiologic, Clinical, and Molecular Characteristics of
Epidemiologic, Clinical, and Molecular Characteristics of

Prevention of breast cancer - DUO
Prevention of breast cancer - DUO

... The greatest risk factor for breast and ovarian cancer is inheritance of a mutation in one of the breast cancer susceptibility genes, BRCA1 and BRCA2 (BRCA1/2) [5]. Both BRCA1 and BRCA2 are large, complex genes which act as tumor suppressor genes. BRCA1 is located on chromosome 17q21.3 while BRCA2 i ...
Familial Clustering of Breast and Prostate Cancer and Risk of
Familial Clustering of Breast and Prostate Cancer and Risk of

Breast cancer screening - Toward Optimized Practice
Breast cancer screening - Toward Optimized Practice

... results requiring additional follow-up tests.33 In determining whether to screen in this age group, health care providers are encouraged to engage women in a discussion about the benefits and risks of screening. Refer to http://www.phac-aspc.gc.ca/cd-mc/mammography-mammographie-eng.php The ideal scr ...
Risk of Breast and Ovarian Cancer in Women With Strong Family
Risk of Breast and Ovarian Cancer in Women With Strong Family

... Compared to BRCA1 and BRCA2, the role of moderate- and low-risk genes in the causation of breast and ovarian cancer is less well defined. As we have discussed above, moderate-risk genes have lower penetrance than BRCA1/2 (conferring a lower lifetime cancer risk). Low-risk genes include those genes a ...
Pathogenicity of MSH2 Missense Mutations Is Typically Associated
Pathogenicity of MSH2 Missense Mutations Is Typically Associated

TP53 mutation spectrum in breast cancer is subtype specific and has
TP53 mutation spectrum in breast cancer is subtype specific and has

... Purpose: In breast cancer, the TP53 gene is frequently mutated and the mutations have been associated with poor prognosis. The prognostic impact of the different types of TP53 mutations across the different molecular subtypes is still poorly understood. Here, we characterize the spectrum and prognos ...
PIK3CA and PTEN Mutations in Uterine Endometrioid Carcinoma
PIK3CA and PTEN Mutations in Uterine Endometrioid Carcinoma

Breast Cancer: Genetics, Risk factors, Molecular Pathology and
Breast Cancer: Genetics, Risk factors, Molecular Pathology and

... gives lifetime risk ratios of 1.80 in families with one affected first-degree relative, 2.93 in families with two affected relatives, and 3.90 in families with three affected relatives. The familial pattern of the disease provides clear evidence for the important role of genetic variation in determi ...
Characterization of Mutator Phenotype in Familial Colorectal Cancer
Characterization of Mutator Phenotype in Familial Colorectal Cancer

... Results: Of the 208 cancers in first-degree and/or second-degree relatives of patients, colorectal and gastric cancers (81%) were most common. Of the 134 proband colorectal cancers, 23 (17%) were MSI in high level, and 32 (24%) were MSI in low level. MMR alterations, including known polymorphism and ...
Breast Ultrasonography. An Introduction Part I
Breast Ultrasonography. An Introduction Part I

... High-quality sonographic imaging of a solid breast mass is quite accurate at characterizing a lesion as probably benign or probably malignant in a majority of cases. ...
Somatic complex I disruptive mitochondrial DNA
Somatic complex I disruptive mitochondrial DNA

the role of O6-methylguanine DNA methyltransferase in
the role of O6-methylguanine DNA methyltransferase in

Founder and Recurrent CDH1 Mutations in Families With Hereditary
Founder and Recurrent CDH1 Mutations in Families With Hereditary

... veals a pattern of isolated, mucinfilled tumor cells within the wall of the stomach.4 Decreased expression of the epithelial cadherin (CDH1) gene (Online Mendelian Inheritance in Man No. 192090) in cases of diffuse gastric cancer may account for morphological differences between intestinal and diffu ...
Founder and Recurrent CDH1 Mutations in Families With Hereditary
Founder and Recurrent CDH1 Mutations in Families With Hereditary

... veals a pattern of isolated, mucinfilled tumor cells within the wall of the stomach.4 Decreased expression of the epithelial cadherin (CDH1) gene (Online Mendelian Inheritance in Man No. 192090) in cases of diffuse gastric cancer may account for morphological differences between intestinal and diffu ...
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BRCA2



BRCA2 and BRCA2 (/ˌbrækəˈtuː/) are a human gene and its protein product, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (breast cancer 2, early onset) are maintained by the HGNC. Orthologs, styled Brca2 and Brca2, are common in other mammal species. BRCA2 is a human tumor suppressor gene (specifically, a caretaker gene), found in all humans; its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA.BRCA2 and BRCA1 are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks. If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. Thus, although the terms ""breast cancer susceptibility gene"" and ""breast cancer susceptibility protein"" (used frequently both in and outside the medical literature) sound as if they describe a proto-oncogene or oncogene, BRCA1 and BRCA2 are ""normal""; it is their mutation that is abnormal.The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3). The human reference BRCA 2 gene contains 28 exons, and the cDNA has 10,254 base pairs coding for a protein of 3418 amino acids.The gene was first cloned by scientists at Myriad Genetics, Endo Recherche, Inc., HSC Research & Development Limited Partnership, and the University of Pennsylvania.Methods to diagnose the likelihood of a patient with mutations in BRCA1 and BRCA2 getting cancer were covered by patents owned or controlled by Myriad Genetics. Myriad's business model of exclusively offering the diagnostic test led from Myriad being a startup in 1994 to being a publicly traded company with 1200 employees and about $500M in annual revenue in 2012; it also led to controversy over high prices and the inability to get second opinions from other diagnostic labs, which in turn led to the landmark Association for Molecular Pathology v. Myriad Genetics lawsuit.
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