Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas

2014 ◽  
Vol 88 (2) ◽  
pp. 182-186 ◽  
Author(s):  
M. Trottier ◽  
J. Lunn ◽  
R. Butler ◽  
D. Curling ◽  
T. Turnquest ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Brca Mutation ◽  
The Bahamas ◽  
Testing Program ◽  
Mutation Carriers ◽  
Brca Mutation Carriers

Unique genetic characteristics of BRCA mutation carriers in a cohort of Arab American women.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1541-1541 ◽  
Author(s):  
Seerin Viviane Shatavi ◽  
Lindsay Dohany ◽  
Mohammad Muhsin Chisti ◽  
Ishmael A. Jaiyesimi ◽  
Dana Zakalik
Keyword(s):  
Genetic Testing ◽  
Brca Mutation ◽  
Arab American ◽  
Deleterious Mutations ◽  
Brca1 And Brca2 ◽  
American Women ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Arab American Women ◽  
Exon 11

1541 Background: Worldwide ethnic variations in the distribution of BRCA1 and BRCA2 mutations of breast cancer patients have been recently recognized. This has led to investigations of the epidemiology, genetics and clinical characteristics of BRCA positive individuals within specific populations. This study aims to describe the findings of BRCA genetic testing in a cohort of Arab American women. Methods: A total of 73 women of Arab ancestry were evaluated in the Beaumont Cancer Genetics Program from Jan 2008 to Jan 2013. Criteria for genetic testing included a personal or family history suggestive of Hereditary Breast and Ovarian Cancer Syndrome (HBOC). Patients underwent comprehensive genetic counseling, followed by full sequence analysis for germline mutations in BRCA1 and BRCA2. Results: 63 women of Arab ancestry underwent genetic testing for BRCA1 and BRCA2. 13 (21%) patients were found to be mutation carriers, of whom 10 (16%) of the 63 had deleterious mutations (7 in BRCA2, and 3 in BRCA1), and 3 (5%) had variants of undetermined significance (VUS) in BRCA2. Of the 10 patients with deleterious mutations, 4 (40%) unrelated individuals had the same mutation, 5804del4, in exon 11 of BRCA2. The remaining patients had deleterious mutations in exon 2, exon 20, and exon 13 of BRCA2; one patient had a BRCA1 and BRCA2 mutation (exon 18). 7 of 10 patients with deleterious mutations had a cancer diagnosis, of which 5 had breast cancer, 1 had ovarian cancer, 1 had pancreatic cancer, and 3 were unaffected. Conclusions: This study demonstrates that BRCA mutations (predominantly in BRCA2) were seen in a significant proportion of Arab American women undergoing genetic testing for HBOC. A mutation in BRCA2, 5804del4, was seen in nearly half (4/10) of the carriers of deleterious mutations. This mutation, in exon 11, has not previously been associated with Arab ethnicity and may represent a founder mutation. Knowledge of the genetic spectrum, frequency, and clinical characteristics of BRCA mutation carriers will lead to greater understanding of hereditary cancer in Arab American women.

scholarly journals Preimplantation Genetic Testing for BRCA Gene Mutation Carriers: a Cost Effectiveness Analysis

2021 ◽  
Author(s):  
Nadav Michaan ◽  
Moshe Lashno ◽  
Yoni Cohen ◽  
Tamar Safra ◽  
Shira Peleg-Hasson ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Effectiveness ◽  
Embryo Transfer ◽  
Brca Mutation ◽  
Cost Effective ◽  
Preimplantation Genetic Testing ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Natural Conception ◽  
Brca Negative

Abstract Background: Gynecologic oncologists should be aware of the option of conception through IVF/PGT-M for families with high BRCA related morbidity or mortality. Our objective was to investigate the cost-effectiveness of preimplantation genetic testing for selection and transfer of BRCA negative embryo in BRCA mutation carriers compared to natural conception.Methods: Cost-effectiveness of two strategies, conception through IVF/PGT-M and BRCA negative embryo transfer versus natural conception with a 50% chance of BRCA positive newborn for BRCA mutation carriers was compared using a Markovian process decision analysis model. Costs of the two strategies were compared using quality adjusted life years (QALYs'). All costs were discounted at 3%. Incremental cost effectiveness ratio (ICER) compared to willingness to pay threshold was used for cost-effectiveness analysis.Results: IVF/ PGT-M is cost-effective with an ICER of 150,219 new Israeli Shekels, per QALY gained (equivalent to 44,480 USD), at a 3% discount rate. Conclusions: IVF/ PGT-M and BRCA negative embryo transfer compared to natural conception among BRCA positive parents is cost effective and may be offered for selected couples with high BRCA mutation related morbidity or mortality. Our results could impact decisions regarding conception among BRCA positive couples and health care providers

Practical assessment of psychosocial concerns associated with genetic testing in ovarian cancer patients using the MICRA questionnaire.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 9569-9569
Author(s):  
Merete Bjørnslett ◽  
Alv A. Dahl ◽  
Øystein Sørebø ◽  
Anne Dørum
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Brca Mutation ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
History Of ◽  
Positive Experiences ◽  
Explained Variance

9569 Background: Ten to 15% of ovarian cancer patients are BRCA mutation carriers. By offering genetic testing, families at risk and healthy female mutation carriers will be identified and offered clinical follow-up. The MICRA questionnaire was developed as a brief, practical, and targeted assessment of concerns and psychosocial issues associated with genetic testing. This study evaluates the practical and psychometric properties of the MICRA (Norwegian translation) in tested ovarian cancer patient. Methods: Since 2002, ovarian cancer patients at Oslo University Hospital, Norwegian Radium Hospital are offered genetic counseling and testing. By the end of 2009, 1,032 were included. The 530 (51%) patients still alive, were mailed the MICRA and three other instruments relevant for mental distress. 354 (67%) patients responded. Among them 9% were BRCA mutation carriers, 7% had a personal history of breast cancer, 29% had a family history of breast and/or ovarian cancer, and 55% had no such family history. Results: In the BRCA mutation carrier group, the total MICRA score and its subscale scores of distress, uncertainty, and positive experiences were all significantly higher than in the other groups. Confirmatory factor analyses of the three subscales of MICRA showed inadequate fit indices, while a four factors solution including the new factor of Support from family (items #18 and #19), showed adequate fit. The Positive Experiences subscale showed a maximum of 4% explained variance in relation to the Hospital Anxiety and Depression Scale total score, the Impact of Event Avoidance and Intrusion scores, and the Eysenck’s Neuroticism score. The subscales of Distress and Uncertainty showed maximum 12% and 41% explained variance, respectively, while the total MICRA score showed 22% explained variance. Conclusions: Our study supports the feasibility of the MICRA in ovarian cancer patients. Frail women may be identified for closer follow-up by using MICRA. Discrimant, content and construct validities of the MICRA were supported, while the factor structure still is open to further investigation.

scholarly journals Preimplantation genetic testing for BRCA gene mutation carriers: a cost effectiveness analysis

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Nadav Michaan ◽  
Moshe Leshno ◽  
Yoni Cohen ◽  
Tamar Safra ◽  
Shira Peleg-Hasson ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Effectiveness ◽  
Brca Mutation ◽  
Cost Effective ◽  
Preimplantation Genetic Testing ◽  
Effectiveness Analysis ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Natural Conception ◽  
Brca Negative

Abstract Background Gynecologic oncologists should be aware of the option of conception through IVF/PGT-M for families with high BRCA related morbidity or mortality. Our objective was to investigate the cost-effectiveness of preimplantation genetic testing for selection and transfer of BRCA negative embryo in BRCA mutation carriers compared to natural conception. Methods Cost-effectiveness of two strategies, conception through IVF/PGT-M and BRCA negative embryo transfer versus natural conception with a 50% chance of BRCA positive newborn for BRCA mutation carriers was compared using a Markovian process decision analysis model. Costs of the two strategies were compared using quality adjusted life years (QALYs’). All costs were discounted at 3%. Incremental cost effectiveness ratio (ICER) compared to willingness to pay threshold was used for cost-effectiveness analysis. Results IVF/ PGT-M is cost-effective with an ICER of 150,219 new Israeli Shekels, per QALY gained (equivalent to 44,480 USD), at a 3% discount rate. Conclusions IVF/ PGT-M and BRCA negative embryo transfer compared to natural conception among BRCA positive parents is cost effective and may be offered for selected couples with high BRCA mutation related morbidity or mortality. Our results could impact decisions regarding conception among BRCA positive couples and health care providers.

scholarly journals BRCA mutation carriers’ perceptions on postmenopausal hormone therapy (HT): An Italian study

2021 ◽  
Author(s):  
Giovanni Grandi ◽  
Valentina Boggio Sola ◽  
Laura Cortesi ◽  
Angela Toss ◽  
Giulia Andrea Giuliani ◽  
...  
Keyword(s):  
Hormone Therapy ◽  
Brca Mutation ◽  
Postmenopausal Hormone Therapy ◽  
Italian Study ◽  
Postmenopausal Hormone ◽  
Mutation Carriers ◽  
Brca Mutation Carriers

Prophylactic Salpingectomy and Delayed Oophorectomy as an Alternative for BRCA Mutation Carriers

2013 ◽  
Vol 68 (6) ◽  
pp. 442-444
Author(s):  
Janice S. Kwon ◽  
Anna Tinker ◽  
Gary Pansegrau ◽  
Jessica McAlpine ◽  
Melissa Housty ◽  
...  
Keyword(s):  
Brca Mutation ◽  
Mutation Carriers ◽  
Prophylactic Salpingectomy ◽  
Brca Mutation Carriers
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