Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer

SciVee ◽  
2010 ◽  
Author(s):  
Sandhya Pruthi ◽  
Bobbie Gostout ◽  
Noralene m. Lindor
Keyword(s):  
Ovarian Cancer ◽  
Breast And Ovarian Cancer ◽  
Brca Mutations ◽  
Hereditary Predisposition

scholarly journals Factors influencing women’s decisions to getting tested for BRCA mutation

2018 ◽  
Vol 9 (3) ◽  
pp. 33 ◽  
Author(s):  
Suha Al-Oballi Kridli ◽  
Holly Austin
Keyword(s):  
Ovarian Cancer ◽  
Brca Mutation ◽  
Genetic Mutations ◽  
Inclusion Criteria ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Factors Influencing ◽  
Brca1 And Brca2 Mutations ◽  
Internal And External Factors

Ovarian cancer is the leading cause of death among gynecological cancers. There are many risk factors that can increase a woman’s susceptibility to breast and ovarian cancers, some of which are modifiable.  However, non-modifiable risks for breast and ovarian cancer include the presence of genetic mutations (BRCA) increase the risk of these diseases. The purpose of this review was to identify factors, reported in the literature, known to affect women’s decision to get genetic testing for BRCA1 and BRCA2 mutations for hereditary breast and ovarian cancer. A total of 31 studies that met the inclusion criteria were included in this review. Several internal and external factors, influencing women’s decision to getting tested for BRCA mutations, were identified and explained. Implications for clinical practice were provided.

scholarly journals SEOM clinical guidelines in hereditary breast and ovarian cancer (2019)

2019 ◽  
Vol 22 (2) ◽  
pp. 193-200 ◽  
Author(s):  
S. González-Santiago ◽  
◽  
T. Ramón y Cajal ◽  
E. Aguirre ◽  
J. E. Alés-Martínez ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Genetic Diagnosis ◽  
Treatment Strategies ◽  
Parp Inhibitors ◽  
Breast And Ovarian Cancer ◽  
Brca Mutations ◽  
Clinical Criteria ◽  
Therapeutic Implications ◽  
New Genes

AbstractMutations in BRCA1 and BRCA2 high penetrance genes account for most hereditary breast and ovarian cancer, although other new high-moderate penetrance genes included in multigene panels have increased the genetic diagnosis of hereditary breast and ovarian cancer families by 50%. Multigene cancer panels provide new challenges related to increased frequency of variants of uncertain significance, new gene-specific cancer risk assessments, and clinical recommendations for carriers of mutations of new genes. Although clinical criteria for genetic testing continue to be largely based on personal and family history with around a 10% detection rate, broader criteria are being applied with a lower threshold for detecting mutations when there are therapeutic implications for patients with breast or ovarian cancer. In this regard, new models of genetic counselling and testing are being implemented following the registration of PARP inhibitors for individuals who display BRCA mutations. Massive sequencing techniques in tumor tissue is also driving a paradigm shift in genetic testing and potential identification of germline mutations. In this paper, we review the current clinical criteria for genetic testing, as well as surveillance recommendations in healthy carriers, risk reduction surgical options, and new treatment strategies in breast cancer gene-mutated carriers.

Management strategies for women at high risk for breast and ovarian cancer: Are women satisfied?

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 1524-1524
Author(s):  
S. N. Westin ◽  
C. C. Sun ◽  
K. H. Lu ◽  
K. M. Schmeler ◽  
P. T. Soliman ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Decision Making ◽  
Patient Satisfaction ◽  
High Risk ◽  
Risk Reduction ◽  
Patient Questionnaire ◽  
Breast And Ovarian Cancer ◽  
Brca Mutations ◽  
Reduction Strategy ◽  
Risk Reduction Strategy

1524 Background: Women at high risk for breast and ovarian cancer have two major management options to reduce their risk of ovarian cancer, periodic screening (PS) or prophylactic oophorectomy (PO). Little is known regarding patient satisfaction levels with choice of risk reduction strategy. Our objective was to determine levels of patient satisfaction with PO versus PS and to identify factors which may influence satisfaction. Methods: As part of a larger study, women who received BRCA1/2 testing before July 2005 were sent a follow-up patient questionnaire packet. We are reporting on the Cancer Worry Scale and Satisfaction With Decision (SWD) scale (range of possible scores, 6–30). The lowest 10th percentile of the SWD score (21) was used to define low satisfaction. Chi-square, t-Test and Mann-Whitney tests were used for statistical analyses. Results: A total of 540 surveys were mailed and 309 responses were received (57%). We excluded 127 patients due to history of an oophorectomy for benign or malignant indications or incomplete SWD scale. The median age of respondents was 48.2. 60/182 women (33%) had BRCA mutations and 64/182 (35.2%) underwent PO. The overall satisfaction rate among respondents was high (median score 29, range 14–30). Median SWD score was significantly higher in patients in the PO group compared to the PS group (30.0 vs. 26.5, p<.001). Patients with BRCA mutations had higher median SWD scores, regardless of management type (30.0 vs. 28.0, p=.013). Low satisfaction scores were associated with the perception that the decision between PO and PS was difficult to make (p=.001). Patients who expressed ongoing difficulty in their decision-making also had lower satisfaction scores (p=.016). Satisfaction was unrelated to demographics, clinical factors, or concerns of cancer risk. Conclusions: In our study, the majority of women at high risk for breast and ovarian cancer were satisfied with their choice of risk reduction strategy. In particular, women who chose PO had higher levels of overall satisfaction. Difficulty with decision-making was associated with lower satisfaction levels. Improved education and support of these women through the decision-making process may enhance overall levels of satisfaction with risk reduction strategy. No significant financial relationships to disclose.

Analyses of p53 expression pattern and BRCA mutations in patients with double primary breast and ovarian cancer

2004 ◽  
Vol 14 (2) ◽  
pp. 251-258 ◽  
Author(s):  
I. Bruchim ◽  
A. Fishman ◽  
E. Friedman ◽  
I. Goldberg ◽  
A. Chetrit ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Expression Pattern ◽  
Breast And Ovarian Cancer ◽  
Brca Mutations ◽  
P53 Expression

Early detection of breast and ovarian cancer in families with BRCA mutations

2005 ◽  
Vol 41 (4) ◽  
pp. 549-554 ◽  
Author(s):  
H.F.A. Vasen ◽  
E. Tesfay ◽  
H. Boonstra ◽  
M.J.E. Mourits ◽  
E. Rutgers ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Early Detection ◽  
Breast And Ovarian Cancer ◽  
Brca Mutations

Clinical significance of gene polymorphisms for hereditary predisposition to breast and ovarian cancer (review of literature)

2021 ◽  
Vol 66 (12) ◽  
pp. 760-767
Author(s):  
D. I. Vodolazhsky ◽  
A. V. Mayakovskaya ◽  
A. V. Kubyshkin ◽  
K. A. Aliev ◽  
I. I. Fomochkina
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Dna Repair ◽  
Clinical Significance ◽  
Hereditary Breast Cancer ◽  
Molecular Genetic ◽  
Breast And Ovarian Cancer ◽  
Hereditary Predisposition ◽  
Oncological Diseases

The review presents classical and modern views on the molecular genetic causes underlying hereditary predisposition to breast and ovarian cancer. A computerized literature search was carried out in the electronic databases MEDLINE, Scopus, and Web of Science, published between January 1994 and May 2021, using the keywords: «hereditary breast and ovarian cancer», «BRCA» and «DNA repair». Current views on the role of germline mutations in genes for susceptibility to breast cancer (BC): BRCA1, BRCA2, PALB2, TP53, CHEK2, PTEN, ATM, and PPM1D are presented. The role of a complex of genes involved in homologous DNA repair and causing other hereditary oncological diseases is considered. The role of the loss of heterozygosity in these genes, which increases the level of chromosomal instability and leads to an increased risk of malignant transformation, is considered. Germinal mutations in the genes under consideration in 90% of clinical cases are the cause of initiation of tissue malignancy and greatly increase the risk of developing hereditary breast cancer and OC. The review emphasizes the complex nature of pathogenesis and significant polymorphism of genetic targets for hereditary breast cancer and OC. It is concluded that it is necessary to use NGS panels for complex screening of genes of hereditary susceptibility to these oncological diseases. The review provides data on the clinical significance of each group of genes of hereditary predisposition in the pathogenesis of breast cancer and OC, and also demonstrates the possible role of methylation of the promoter regions of genes and the state of mitochondrial DNA in the development of these pathologies. The purpose of this review was to broaden the horizons of specialists in the field of oncology and clinical diagnostics in the context of the rapidly expanding spectrum of molecular genetic markers of hereditary breast and ovarian cancers.

Adverse changes in body composition of cancer surivors with BRCA mutations.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12514-e12514
Author(s):  
Aileen Caceres
Keyword(s):  
Physical Activity ◽  
Ovarian Cancer ◽  
Body Composition ◽  
Weight Gain ◽  
Physical Health ◽  
Cancer Survivors ◽  
Body Mass ◽  
Psychological Status ◽  
Breast And Ovarian Cancer ◽  
Brca Mutations

e12514 Background: Post-diagnosis weight gain is a risk factor for cancer recurrence and many individuals diagnosed with breast and ovarian cancer gain weight during and after treatment. In the present study, we have measured the anthropometrics of cancer survivors with BRCA mutations and have studied the association between anthropometrics and post-diagnosis weight gain. Methods: The study population included 37 breast and ovarian cancer survivors with BRCA mutations, 45 BRCA previvors, and 26 controls. Anthropometric measurements included body mass index (BMI; kg weight/ m2 height) and body composition (% fat and lean tissue, assessed by using 4-lead bioelectric impedance). Post-diagnosis weight gain was determined via questionnaire. Potential effectors of anthropometrics included: diet (3-day food records), physical activity (General Practice Physical Activity Questionnaire), physical health (co-morbidities, Rand-36 Physical Health Quality of Life (QoL)), and psychological status (Beck Anxiety Inventory, Rand-36 Emotional Health QoL). Results: We found no significant differences in BMI between the survivors, previvors or controls (26+2 (SEM), 25+1, 25+1, respectively). However, the % lean body mass of the cancer survivors was significantly lower and their % body fat significantly higher than the previvors or controls (p=0.0005). Measures of body composition (% fat and lean mass) were independent predictors of post-diagnosis weight gain (r=0.86, p<0.001). No significant association was found between body composition measures and psychological status, energy intake or food composition. However, the adverse body composition measures of the survivors were associated significantly with physical inactivity (p<0.01), number of co-morbidities (p<0.0001), and physical health QoL (p<0.01). Conclusions: BRCA cancer survivors have adverse changes in body composition that increase their risk for weight gain and disease relapse. Based upon these findings, it is important for the survivorship care plan to include: 1) education regarding post-diagnosis weight gain, 2) a physical activity regimen, 3) health management, and 4) interval assessment of anthropometrics, including body composition, during and after treatment.

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