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Showing Results for brca2 mutation
46 Search Results
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 42. Poly(ADP-Ribose) Polymerase Inhibitors >
BRCA1 and BRCA2 Mutations and DNA Repair
Heterozygous germ line mutations in the BRCA1 and BRCA2 genes confer a high risk of breast (up to 85% lifetime risk) and ovarian (10% to 40%) cancer in addition to ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 104. Ovarian Cancer, Fallopian Tube Carcinoma, and Peritoneal Carcinoma >
Hereditary Ovarian Carcinoma (updated 3/26/2012)
Approximately 5% to 10% of patients with epithelial ovarian carcinoma carry a germline mutation that places them at substantially increased risk of developing this disease. The breast–ovarian cancer syndrome accounts ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 105. Molecular Biology of Breast Cancer >
BRCA1 and BRCA2
BRCA1 and BRCA2 mutations account for approximately half of all dominantly inherited hereditary breast cancers. These mutations confer a relative risk of breast cancer 10 to 30 times that of ...
Perez and Brady’s Principles and Practice of Radiation Oncology
Perez and Brady’s Principles and Practice of Radiation Oncology
Chapter 53. Early Stage Breast Cancer >
Mutations in BRCA1 and BRCA2
Studies of patients with familial breast cancer led to the discovery of BRCA1 in 1995 and BRCA2 in 1996. Similar to p53, both BRCA1 and BRCA2 are tumor suppressor genes ...
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer >
BRCA1 and BRCA2
In 1990, chromosome 17q21 was identified as the location of a susceptibility gene for early onset breast cancer, now termed BRCA1 (47). Shortly thereafter, linkage between the genetic marker D17S74 ...
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer >
Population Genetics of BRCA1 and BRCA2
The population genetics of BRCA1 and BRCA2 reflect several basic evolutionary principles. Each gene has undergone multiple independent mutations and these mutations have migrated with the populations in which they ...
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer >
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers
Cancer risk estimates for BRCA1 and BRCA2 mutations carriers have been controversial (79). Estimates based on the highly penetrant families used to find these genes are high (as they were ...
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer >
Genotype-Phenotype Correlations in BRCA1 and BRCA2
Several studies have attempted to establish correlations between specific BRCA1 mutations and the types of cancer that subsequently develop. It was initially suggested that mutations in the 5 half of ...
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer >
Modifiers of BRCA1 and BRCA2 Mutations
Although germline mutations in BRCA1 and BRCA2 confer a high risk of breast cancer, variability in cancer risk has been observed among individuals both between and within families. The discovery ...
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer >
Influence of BRCA1 or BRCA2 Mutation Status on Breast Cancer Prognosis
The influence of BRCA1 or BRCA2 mutation status on breast cancer prognosis remains a controversial issue in part because of the diversity of the design of the studies that have ...
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer >
The Influence of BRCA1 or BRCA2 Mutation Status on Response to Therapy
Rennert et al. (148) noted two important observations in subgroups of their large Israeli study. First, there was a statistically significant correlation between BRCA1 mutation status and a more favorable ...
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
BRCA1 AND BRCA2 Cancer Risks
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
Genotype-Phenotype Correlations within BRCA1 and BRCA2
Patients frequently ask whether mutation-specific data are available that may help individualize BRCA1 or BRCA2 risks. Although studies have suggested that genotype-phenotype correlations may exist, these data are not yet ...
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
Modifier Genes
As discussed above, it is possible that specific mutations in the BRCA1/2 genes are associated with variable cancer risks. It has also been observed, however, that polymorphisms within these genes ...
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
Reproductive Factors
A central question has been whether reproductive factors that affect risk in the general population are applicable to BRCA1/2 carriers. Although data are limited, several studies have suggested that early ...
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
Dietary and Lifestyle Interventions
A number of studies has focused on the impact of diet and other lifestyle interventions on breast cancer risk in mutation carriers. Total energy intake and weight gain during adulthood ...
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
Assessing BRCA1/2 Carrier Probability
Cancer risk assessment encompasses several factors, including the likelihood that an individual or family harbors a gene mutation, the chance that an individual is a gene carrier based on mendelian ...
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
Application of Risk Models
Table 19.2 summarizes the BRCA1/2 mutation probabilities for probands in three different pedigrees as determined by commonly used probability models. CancerGene software (90) was used to calculate the BRCAPRO probabilities ...
Diseases of the Breast
Diseases of the Breast
Chapter 19. Genetic Testing and Management of Patients with Hereditary Breast Cancer >
Psychosocial Outcomes of BRCA1/2 Genetic Testing
The advent of BRCA1/2 testing was accompanied by considerable concern about the potential for adverse psychosocial outcomes in this already distressed population (148). In the 12 years since BRCA1/2 testing ...
Diseases of the Breast
Diseases of the Breast
Chapter 20. Nongenetic Factors in the Causation of Breast Cancer >
Hereditary Syndromes
Family history of breast cancer is an accepted risk factor for breast cancer; however, the proportion of breast cancer estimated to be caused by rare highly penetrant genes, such as ...
Diseases of the Breast
Diseases of the Breast
Chapter 22. Chemoprevention: Clinical Aspects >
Effect Of Tamoxifen On Carriers Of Predisposing Genetic Mutations
Women with a mutation in BRCA1 or BRCA2 have a high risk of developing breast cancer and of contralateral cancer after the initial diagnosis of breast cancer. Tamoxifen protects against ...
Diseases of the Breast
Diseases of the Breast
Chapter 28. Pathology of Invasive Breast Cancer >
Pathologic Features Of Breast Cancer in Patients with BRCA1 and BRCA2 Mutations
Considerable recent interest has focused on the pathology of the breast cancers that develop in women with a genetic predisposition to this disease as a result of mutations in the ...
Diseases of the Breast
Diseases of the Breast
Chapter 36. Mastectomy >
Prophylactic Mastectomy
Prophylactic mastectomy continues to be indicated as an option for patients at high risk of developing breast cancer, including known gene mutation carriers of BRCA1 or BRCA2, strong family history ...
Diseases of the Breast
Diseases of the Breast
Chapter 92. Breast Cancer in Younger Women >
Risk Factors for Early Onset Breast Cancer and Genetics Issues
Aside from female gender, increasing age is the strongest risk factor for developing breast cancer. Consequently, younger women are at much lower risk even when compared with older premenopausal women. ...
Principles and Practice of Surgical Oncology
Principles and Practice of Surgical Oncology
Chapter 2. Genetic and Environmental Factors in Cancer Pathogenesis >
BRCA1 and BRCA2 and Breast Cancer
BRCA1 and BRCA2 genes encode large proteins with complex functions in the maintenance of chromosomal stability, most important of which is detection and repair of DNA double-strand breaks (94). BRCA1 ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 12. Biology of Personalized Cancer Medicine > Breast Cancer
Susceptibility to early onset breast cancer has been extensively studied. ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 52. Role of Surgery in Cancer Prevention > Identification of Patients at Risk
The most common cancer syndromes that place women at risk ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 81. Molecular Biology of Pancreas Cancer > Low-Frequency Genetic Changes
The causative genes of Fanconi anemia play a role in ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 104. Ovarian Cancer, Fallopian Tube Carcinoma, and Peritoneal Carcinoma > Primary Peritoneal Serous Carcinoma
Since PPSC may sometimes be associated with germline mutations in ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 104. Ovarian Cancer, Fallopian Tube Carcinoma, and Peritoneal Carcinoma > Fallopian Tube Cancer
Postmenopausal vaginal bleeding may bring patients with fallopian tube cancer ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 106. Malignant Tumors of the Breast > Inherited Predisposition to Breast Cancer
Mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 106. Malignant Tumors of the Breast > Management of the High-Risk Patient
A woman’s risk of developing breast cancer is influenced by ...
Cancer: Principles & Practice of Oncology
Cancer: Principles & Practice of Oncology
Chapter 106. Malignant Tumors of the Breast > Patient Risk Factors
An inherited susceptibility to breast and ovarian cancer and other ...
Principles and Practice of Gynecologic Oncology
Principles and Practice of Gynecologic Oncology
Chapter 17. Hormones and Human Malignancies > Hormone Replacement Therapy
Women With BRCA Mutations. In the meta-analysis by the CGHFBC, ...
Principles and Practice of Gynecologic Oncology
Principles and Practice of Gynecologic Oncology
Chapter 23. Corpus: Epithelial Tumors > Epidemiology And Risk Factors
Controversy exists regarding the relationship between BRCA1 and BRCA2... ...
Principles and Practice of Gynecologic Oncology
Principles and Practice of Gynecologic Oncology
Perez and Brady’s Principles and Practice of Radiation Oncology
Perez and Brady’s Principles and Practice of Radiation Oncology
Diseases of the Breast
Diseases of the Breast
Chapter 18. Inherited Genetic Factors and Breast Cancer > Population Genetics of BRCA1 and BRCA2
BRCA1 and BRCA2 mutations among the Ashkenazi Jewish... ...
Diseases of the Breast
Diseases of the Breast
Chapter 37. Breast-Conserving Therapy: Conventional Whole Breast Irradiation > Patient Factors
A second important patient-related factor that can influence rates of ...
Principles and Practice of Surgical Oncology
Principles and Practice of Surgical Oncology
Chapter 1. Principles of Molecular Biology for Cancer Surgeons > Breast Cancer
Inherited predisposition to breast cancer is mediated by mutations in ...
Principles and Practice of Surgical Oncology
Principles and Practice of Surgical Oncology
Chapter 2. Genetic and Environmental Factors in Cancer Pathogenesis > High-Penetrant Breast Cancer Susceptibility Genes
BRCA2 mutations result in cancers more typical of... ...
Principles and Practice of Pediatric Oncology
Principles and Practice of Pediatric Oncology
Principles of Molecular Diagnostics and Personalized Cancer Medicine
Principles of Molecular Diagnostics and Personalized Cancer Medicine
Chapter 32. Molecular Diagnostics of Pancreatic Cancer > Genetic Alterations as Biomarkers of Pancreatic Cancer
The expansion of sequencing analysis to entire cancer genomes or ...
Principles of Molecular Diagnostics and Personalized Cancer Medicine
Principles of Molecular Diagnostics and Personalized Cancer Medicine
Chapter 53. Personalized Medicine and Targeted Therapy of Breast Cancer > Etiology and Prevention Strategies
Risk-reducing surgery may be considered with appropriate genetic counseling in ...
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