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BRCA1/2
BRCA1/2

... with ovarian or breast cancer: this specific gene mutation is likely to be present. This is also a resource saving approach. If deleterious mutations in BRCA1/2 genes have been detected, possible ovarian or breast cancer could be blocked more effectively by preventive operations. These genes cause ...
Document
Document

... of prostate cancer (OR: 4.78, 95% CI: 1.87–12.25), whereas the risk in BRCA1 mutation carriers was not significantly increased (OR: 2.20, 95% CI: 0.72–6.70). In another Israeli study, 87 prostate cancer patients were compared with 87 healthy controls. The frequency distribution of Ashkenazi Jewish f ...
Advances in Breast Cancer Screening and Diagnosis
Advances in Breast Cancer Screening and Diagnosis

Women with a family history of breast cancer
Women with a family history of breast cancer

Genetic Testing For Chek2 Mutations For Breast
Genetic Testing For Chek2 Mutations For Breast

... women with invasive breast cancer diagnosed at or below the age of 50, between 1996 and 2007, in 17 hospitals throughout Poland. Patients were tested for 4 founder mutations in the CHEK2 gene after diagnosis, and their medical records were used to retrieve tumor characteristics and treatments receiv ...
Breast Cancer Risk Factors
Breast Cancer Risk Factors

CLINICAL REVIEW Management of breast cancer—Part I
CLINICAL REVIEW Management of breast cancer—Part I

... States the incidence of breast cancer fell significantly after many women stopped taking long term hormone replacement therapy.6 Interest has been expressed in the interaction between environmental risk factors and genetic predisposition.7 Some risk factors probably have a higher impact in some gene ...
Gene Section P53 (Protein 53 kDa) Atlas of Genetics and Cytogenetics
Gene Section P53 (Protein 53 kDa) Atlas of Genetics and Cytogenetics

Breast Cancer - LSUHSC School of Nursing
Breast Cancer - LSUHSC School of Nursing

... • Previous use of DES, a drug commonly given to pregnant women from 1940 to 1971 to prevent miscarriage, may slightly increase the risk of developing breast cancer. • Women whose mothers took DES during pregnancy may also have a slightly higher risk of breast cancer. ...
Oncogenic CSF3R mutations in chronic neutrophilic leukemia and
Oncogenic CSF3R mutations in chronic neutrophilic leukemia and

... Fred Hutchinson Cancer Research Center/Seattle Cancer Care Alliance ...
Prophylactic Mastectomy
Prophylactic Mastectomy

The effects of Atm haploinsufficiency on mutation rate in the mouse
The effects of Atm haploinsufficiency on mutation rate in the mouse

The Angelina Jolie Effect in Jewish Law: Prophylactic Mastectomy
The Angelina Jolie Effect in Jewish Law: Prophylactic Mastectomy

"BREAST CANCER TREATMENT IN MUTATION CARRIERS
"BREAST CANCER TREATMENT IN MUTATION CARRIERS

... to mastectomy, preservation of the nipple-areola complex (NAC) may be highly important due to the generally younger age at time of surgery. In comparison to skin-sparing mastectomy, the nipplesparing approach may allow a superior cosmetic outcome and higher levels of patient satisfaction24. Several ...
What is Breast Thermography - International Academy of Clinical
What is Breast Thermography - International Academy of Clinical

- LSHTM Research Online
- LSHTM Research Online

... * CI = confidence interval; FH = family history; FM = founder mutations; GCaPPS = Genetic Cancer Prediction through Population Screening study; RRSO = risk-reducing salpingo-oophorectomy; RRM = risk-reducing mastectomy. P1: The probability of carrying a BRCA FM in the AJ population (p1 = 0.0245) is ...
Risk Assessment, Genetic Counseling, and Genetic Testing
Risk Assessment, Genetic Counseling, and Genetic Testing

... family history. Individuals from families with known mutations or from ethnic groups in which certain mutations are more common (for example, Ashkenazi Jewish women) can be tested for these specific mutations. Individuals without linkages to families or groups with known mutations receive more compr ...
Integrative Clinical Genomics of Advanced Prostate Cancer
Integrative Clinical Genomics of Advanced Prostate Cancer

... pathology review and assessment of tumor content. Of these, 150 biopsies had >20% tumor content as defined by computa- ...
Evaluation Of High Stage Skin Squamous Cell Carcinoma (SSCC
Evaluation Of High Stage Skin Squamous Cell Carcinoma (SSCC

... of Pathology and Laboratory Medicine, Albany Medical College, Albany, NY, 2Foundation Medicine, Inc., Cambridge, MA ...
Risk assessment for breast cancer and BRCA mutations in women
Risk assessment for breast cancer and BRCA mutations in women

Powerpoint - Cancer Navigator Program
Powerpoint - Cancer Navigator Program

... Identifying a Mass ...
Genetic Testing for Susceptibility to Breast and Ovarian Cancer (e.g.
Genetic Testing for Susceptibility to Breast and Ovarian Cancer (e.g.

... Counselor not employed by a commercial genetic testing laboratory (Genetic counselors are not excluded if they are employed by or contracted with a laboratory that is part of an Integrated Health System which routinely delivers health care services beyond just the laboratory test itself).  a geneti ...
Development and applications of a real-time quantitative RT
Development and applications of a real-time quantitative RT

RESEARCH ARTICLE Mutational Analysis of Key EGFR Pathway
RESEARCH ARTICLE Mutational Analysis of Key EGFR Pathway

MRI BREAST SCREENING IN HIGH RISK PATIENTS
MRI BREAST SCREENING IN HIGH RISK PATIENTS

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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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