scholarly journals High risk men's perceptions of pre-implantation genetic diagnosis for hereditary breast and ovarian cancer

2010 ◽  
Vol 25 (10) ◽  
pp. 2543-2550 ◽  
Author(s):  
Gwendolyn P. Quinn ◽  
Susan T. Vadaparampil ◽  
Cheryl A. Miree ◽  
Ji-Hyun Lee ◽  
Xiuhua Zhao ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Genetic Diagnosis ◽  
Breast And Ovarian Cancer

Identification of Women at Risk for Hereditary Breast and Ovarian Cancer in A Sample of 1000 Slovenian Women: A Comparison of Guidelines

2020 ◽  
Author(s):  
Urška Kotnik ◽  
Borut Peterlin ◽  
Luca Lovrecic
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Family History ◽  
High Risk ◽  
Breast And Ovarian Cancer ◽  
Nccn Guidelines ◽  
Family History Of Cancer ◽  
Slovenian Population ◽  
History Of ◽  
History Of Cancer

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.

Decision analysis of prophylactic mastectomy and oophorectomy in BRCA1-positive or BRCA2-positive patients.

1998 ◽  
Vol 16 (3) ◽  
pp. 979-985 ◽  
Author(s):  
V R Grann ◽  
K S Panageas ◽  
W Whang ◽  
K H Antman ◽  
A I Neugut
Keyword(s):  
Quality Of Life ◽  
Ovarian Cancer ◽  
High Risk ◽  
Surgical Procedures ◽  
Brca2 Gene ◽  
Cost Effective ◽  
Prophylactic Surgery ◽  
Breast And Ovarian Cancer ◽  
Prophylactic Surgical Procedures

PURPOSE Young Ashkenazi Jewish women or those from high-risk families who test positive for BRCA1 or BRCA2 mutant genes have a significant risk of developing breast or ovarian cancer by the age of 70 years. Many question whether they should have prophylactic surgical procedures, ie, bilateral mastectomy and/or oophorectomy. METHODS A Markov model was developed to determine the survival, quality of life, and cost-effectiveness of prophylactic surgical procedures. The probabilities of developing breast and ovarian cancer were based on literature review among women with the BRCA1 or BRCA2 gene and mortality rates were determined from Surveillance, Epidemiology, and End Results (SEER) data for 1973 to 1992. The costs for hospital and ambulatory care were estimated from Health Care Financing Administration (HCFA) payments in 1995, supplemented by managed care and fee-for-service data. Utility measures for quality-adjusted life-years (QALYs) were explicitly determined using the time-trade off method. Estimated risks for breast and ovarian cancer after prophylactic surgeries were obtained from the literature. RESULTS For a 30-year-old woman, according to her cancer risks, prophylactic oophorectomy improved survival by 0.4 to 2.6 years; mastectomy, by 2.8 to 3.4 years; and mastectomy and oophorectomy, by 3.3 to 6.0 years over surveillance. The QALYs saved were 0.5 for oophorectomy and 1.9 for the combined procedures in the high-risk model. Prophylactic surgeries were cost-effective compared with surveillance for years of life saved, but not for QALYs. CONCLUSION Among women who test positive for a BRCA1 or BRCA2 gene mutation, prophylactic surgery at a young age substantially improves survival, but unless genetic risk of cancer is high, provides no benefit for quality of life. Prophylactic surgery is cost-effective for years of life saved compared with other medical interventions that are deemed cost-effective.

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.

Increased risk of cervical cancer in high-risk families with and without mutations in the BRCA1 and BRCA2 genes

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 5588-5588 ◽  
Author(s):  
K. Rhiem ◽  
C. Fischer ◽  
K. Bosse ◽  
B. Wappenschmidt ◽  
R. K. Schmutzler
Keyword(s):  
Ovarian Cancer ◽  
Cervical Cancer ◽  
High Risk ◽  
Cancer Registries ◽  
Cancer Center ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
Increased Risk ◽  
High Risk Families

5588 Background: In BRCA germline mutation carriers increased risks for cancer at other sites than breast and ovary have been reported. Methods: To evaluate the risk of BRCA-associated cancers, we conducted a cross-section analysis in 4405 individuals from 409 families with BRCA1 (n=86) or BRCA2 mutations (n=53) and 270 high risk BRCA1/2 negative families ascertained by the Familial Breast and Ovarian Cancer Center Cologne. We considered proven mutation carriers, individuals affected by breast and ovarian cancer and their first degree relatives and identified 921 individuals from BRCA1 (604 female; 317 male), 571 from BRCA2 (365 female; 206 male) and 2913 from BRCA1/2 negative (1938 female; 975 male) families that suffered from 677 cancers other than breast and ovarian cancers. Relative risks (RR) of the study group compared to the general population were evaluated by the standardized incidence ratio (SIR), using data from two German Cancer Registries. Results: The risk for cervical cancer is significantly increased in women from BRCA1 and BRCA2 positive (RR=4.59, 95% CI=2.20 to 8.44, and RR=3.69, 95% CI=1.20 to 8.61; p=<0.001) and from BRCA1/2 negative families (RR=2.97, 95% CI=1.88 to 4.45). Moreover, the risk for pancreatic cancer in women from BRCA2 positive and BRCA1/2 negative families as well as the risk for prostate cancer in men from BRCA2 positive families is increased (RR=5.10, 95% CI=1.65 to 11.90; RR=1.98, 95% CI=1.02 to 3.46; RR=2.09; 95% CI=1.00 to 3.84). Conclusions: We here report an increased risk of cervical cancer for women from BRCA1 and BRCA2 positive and from BRCA1/2 negative high risk families, respectively. These results are in line with other studies in BRCA1 and 2 positive individuals and should be considered in the clinical risk management of these individuals. No significant financial relationships to disclose.

Results of NGS panel of hereditary breast and ovarian cancer in Lebanese women.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13045-e13045
Author(s):  
Joseph Al Ajami ◽  
Nadine Jalkh ◽  
Ghadi Moubarak ◽  
Roland Eid ◽  
Fady Haddad ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Mutation Rate ◽  
Founder Effect ◽  
Familial Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Genetic Alterations ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations

e13045 Background: Hereditary breast (BC) and ovarian cancer (OC) genetic alterations are considered the most prevalent among familial cancer. To date, four studies have exposed the mutations related to hereditary BC predisposition in the Lebanese population , with percentage of BRCA-related pathogenic mutations ranging between 5 % and 15 %. Methods: Between 2017 and 2019, 117 patients with high risk hereditary breast and ovarian cancer were referred to undergo the testing at the Unité de Génétique médicale (UGM) of Saint-Joseph University of Beirut, Lebanon. The sequencing was accomplished by using the 21-panel Next-Generation Sequencing (NGS) method for all of our patients, to which we also added the MLPA technique followed by the Sanger sequencing for validation whenever a genetic alteration was found. Results: From 117 Lebanese women with high-risk hereditary breast and ovarian cancer predisposition, 19 pathogenic mutations were identified in this study: 11 BRCA1, 1 BRCA2, 2 PALB2, 1 ATM, 1 CDH1, 1 MSH6, 1 RAD51C, and 1 BRIP1. Among those, 13 patients had BC, one had OC and five were healthy individuals. Five similar mutations were found within the BRCA1 gene, the p.C44F mutation, accounting for 45.4 %, thus suggesting a founder effect. Average age at diagnosis in the BC patients carrying a mutation was 41 years and 38.5% had a triple negative BC. Conclusions: The overall pathogenic mutation rate was equal to 16.2% while the BRCA deleterious mutation rate was 10.3% lower to those reported in the literature. The p.C44F mutation appeared five times suggesting a founder effect. [Table: see text]

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