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The Role of Prophylactic Oophorectomy in the Management
The Role of Prophylactic Oophorectomy in the Management

CDH1 and related cancer spectrum
CDH1 and related cancer spectrum

Assessing Associations between the AURKA- HMMR-TPX2-TUBG1 Functional Module and
Assessing Associations between the AURKA- HMMR-TPX2-TUBG1 Functional Module and

Identification and management of women with a family history of
Identification and management of women with a family history of

... a single gene mutation),12 with BRCA mutations accounting for about 30% of these high-risk breast cancer families.13 These BRCA mutations occur in between 1 in 300 and 1 in 500 women in the general population14-17 but in 1 in 50 women of Ashkenazi Jewish ethnicity.18 Association with breast cancer h ...
Multiplex Gene Expression Profiling of 16 Target Genes in
Multiplex Gene Expression Profiling of 16 Target Genes in

Breast MRI Information Packet - Lake Shore Surgical Associates, LTD.
Breast MRI Information Packet - Lake Shore Surgical Associates, LTD.

... screening test, and what is the desirable balance between sensitivity and specificity? Any method of breast-cancer screening has the potential for benefit (lifesaving cancer detection) and for harm (cost, anxiety, follow-up imaging, or benign biopsy). The prognosis is better for small, early cancers ...
Health Talk - Lori S. Gormley, M.D. Lori S. Gormley, M.D. HerSpace
Health Talk - Lori S. Gormley, M.D. Lori S. Gormley, M.D. HerSpace

... Are there other ways to detect breast cancer early in women who have dense breasts? There are several other ways now available to help detect early breast cancer in women with dense breasts, and many more are in the process of being developed. Screening Breast Ultrasound is becoming more widely avai ...
Khanam PA - Diabetes starting earlier
Khanam PA - Diabetes starting earlier

... FFTP below 20 years need to be educated for more frequent monitoring and self-exam for breast-lump. Breast cancer remains the second most common cause of cancer related deaths in women.1 Minor risk factors include early menarche, late menopause, late or no child birth, hormone replacement therapy (H ...
Breast Cancer File
Breast Cancer File

... Prophylactic mastectomy is another primary prevention modality. This procedure can reduce the risk of cancer by 90% and is sometimes referred to as a “risk-reducing” mastectomy. The procedure consists of a total mastectomy (removal of breast tissue only) and is usually accompanied by immediate breas ...
onestop breast cancer diagnostics
onestop breast cancer diagnostics

... preferred provider for OneStop breast cancer diagnostic clinics. BreastHealth UK was founded to help women take a greater role in organising and managing their breast health. They operate a UK-wide network of OneStop breast diagnostic clinics for women and men with breast symptoms. All BreastHealth ...
Ovarian Cancer at Young Age
Ovarian Cancer at Young Age

... and ovarian cancer syndrome. Identification of HNPCC-families is important since control programmes may effectively prevent additional cases of the more common colorectal and endometrial cancers. However, even among young women 9 out of 10 tumors develop because of unknown causes, which suggests tha ...
The mechanism of mismatch repair and the functional analysis of
The mechanism of mismatch repair and the functional analysis of

AURKA- Assessing Associations between the HMMR-TPX2-TUBG1 Functional Module and BRCA1/2 Mutation
AURKA- Assessing Associations between the HMMR-TPX2-TUBG1 Functional Module and BRCA1/2 Mutation

Breast Cancer - The Castle Practice
Breast Cancer - The Castle Practice

... Risk factors for breast cancer • Age -risk doubles every 10 years of age • Where you live- this may reflect genetic or environmental factors. • Family history- close relatives who have or have had breast cancer < 50 years when diagnosed. • If you have had a previous breast cancer. • Being childless ...
Scientific Impact Paper No. 12
Scientific Impact Paper No. 12

... angiopoetin–Tie2 inhibitor)10 and aflibercept (VEGF–Trap)11 (Appendix 1). 3. Poly (ADP) Ribose Polymerase (PARP) Inhibitors Carriers of BRCA mutations harbour DNA repair pathway homologous recombination defects (HRD) and are at risk of developing ovarian cancer (10–40% lifetime risk). PARP inhibitor ...
A Phase I–II Study of the Oral PARP Inhibitor Rucaparib in Patients
A Phase I–II Study of the Oral PARP Inhibitor Rucaparib in Patients

Breast Cancer among Pakistani women in referral hospitals: an
Breast Cancer among Pakistani women in referral hospitals: an

... these information been provided, the study could have been more valuable in determining risk factors. Despite having all these limitations, this study revealed that the Pakistani women having early menarche less than 11 years bear special risk for developing breast cancer in post-menopausal age. The ...
Genetic Cancer Susceptibility Panels Using Next
Genetic Cancer Susceptibility Panels Using Next

... including central nervous system tumors, renal cancers, pheochromocytomas, and pancreatic neuroendocrine tumors. FH (fumarate hydratase) mutations have been associated with renal cell and uterine cancers. FLCN (folliculin) acts as a tumor suppressor gene; mutations in this gene are associated with t ...
PNM 2015 01.indd - Postępy Nauk Medycznych
PNM 2015 01.indd - Postępy Nauk Medycznych

Absence of CCND1 gene amplification in breast tumours of BRCA1
Absence of CCND1 gene amplification in breast tumours of BRCA1

Knowledge, Attitudes, and Interest in Breast
Knowledge, Attitudes, and Interest in Breast

... The in-person or telephone administered questionnaires contained identical measures of sociodemographics, clinical variables, psychological distress, religious/spiritual beliefs, and attitudes toward genetic counseling and testing. Background factors. Variables included age, gender, family identific ...
Imaging Methods Used to Find Breast Cancer
Imaging Methods Used to Find Breast Cancer

... A breast MRI uses magnetic fields to create an image of the breast. It can sometimes find cancers in dense breasts that are not seen on mammograms. Breast MRI may be used with mammography for screening some women at a high risk of breast cancer (such as those with a BRCA1/2 gene mutation). It is not ...
Cancer Genetics Knowledge and Beliefs and Receipt of Results in
Cancer Genetics Knowledge and Beliefs and Receipt of Results in

Associations of miRNA polymorphisms and expression - Funpec-RP
Associations of miRNA polymorphisms and expression - Funpec-RP

... of rs895819, located in the terminal loop of a pre-miR-27a oncogene, was associated with a reduced familial breast cancer risk. We found no association between these 2 SNPs and breast cancer risk. The inconsistency of these observations may be explained by the different ethnicities of the investigat ...
Public Summary Document - Word 118 KB
Public Summary Document - Word 118 KB

... diagnostic genetic testing of individuals affected with breast and/or ovarian cancer, STK11, PTEN, CDH1, PALB2, and TP53 all had eviQ guidelines (www.eviq.org.au) for the clinical management of individuals with a mutation in these genes, and MSAC accepted that this constituted sufficient evidence of ...
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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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