scholarly journals Gene-panel testing of breast and ovarian cancer patients identifies a recurrentRAD51Cduplication

2018 ◽  
Vol 93 (3) ◽  
pp. 595-602 ◽  
Author(s):  
L.M. Pelttari ◽  
H. Shimelis ◽  
H. Toiminen ◽  
A. Kvist ◽  
T. Törngren ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Gene Panel ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing

Clinical impact of multi-gene panel testing for hereditary breast and ovarian cancer risk assessment.

2015 ◽  
Vol 33 (15_suppl) ◽  
pp. 1513-1513
Author(s):  
Leif W. Ellisen ◽  
Allison W. Kurian ◽  
Andrea J Desmond ◽  
Meredith Mills ◽  
Stephen E Lincoln ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Risk Assessment ◽  
Cancer Risk ◽  
Clinical Impact ◽  
Gene Panel ◽  
Cancer Risk Assessment ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing

scholarly journals A Comparison of Patient-Reported Outcomes Following Consent for Genetic Testing Using an Oncologist-or Genetic Counselor-Mediated Model of Care

2021 ◽  
Vol 28 (2) ◽  
pp. 1459-1471
Author(s):  
Jeanna M McCuaig ◽  
Emily Thain ◽  
Janet Malcolmson ◽  
Sareh Keshavarzi ◽  
Susan Randall Armel ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Genetic Counselor ◽  
Clear Understanding ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Patient Reported ◽  
Post Test

This study compares knowledge, experience and understanding of genetic testing, and psychological outcomes among breast and ovarian cancer patients undergoing multi-gene panel testing via genetic counselor-mediated (GMT) or oncologist-mediated (OMT) testing models. A pragmatic, prospective survey of breast and ovarian cancer patients pursuing genetic testing between January 2017 and August 2019 was conducted at the Princess Margaret Cancer Centre in Toronto, Canada. A total of 120 (80 GMT; 40 OMT) individuals completed a survey administered one week following consent to genetic testing. Compared to OMT, the GMT cohort had higher median knowledge (8 vs. 9; p = 0.025) and experience/understanding scores (8.5 vs. 10; p < 0.001) at the time of genetic testing. Significant differences were noted in the potential psychological concerns experienced, with individuals in the GMT cohort more likely to screen positive in the hereditary predisposition domain of the Psychosocial Aspects of Hereditary Cancer tool (55% vs. 27.5%; p = 0.005), and individuals in the OMT cohort more likely to screen positive in the general emotions domain (65.0% vs. 38.8%; p = 0.007). The results of this study suggest that OMT can be implemented to streamline genetic testing; however, post-test genetic counseling should remain available to all individuals undergoing genetic testing, to ensure any psychologic concerns are addressed and that individuals have a clear understanding of relevant implications and limitations of their test results.

scholarly journals Multi-gene panel testing at the hereditary breast and ovarian cancer (HBOC) unit of the Hospital Clinic of Barcelona

2019 ◽  
Vol 30 ◽  
pp. iii42-iii43
Author(s):  
B. Adamo ◽  
L. Moreno ◽  
L. Gaba ◽  
M. Vidal ◽  
T. Pascual ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Gene Panel ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Hospital Clinic

Impact of hereditary multigene panel testing for cancer survivors.

2016 ◽  
Vol 34 (3_suppl) ◽  
pp. 261-261
Author(s):  
Nimmi S. Kapoor ◽  
Jennifer Swisher ◽  
Rachel E. McFarland ◽  
Mychael Patrick ◽  
Lisa D. Curcio
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Survivors ◽  
Gene Mutation ◽  
Gene Panel ◽  
Personal History ◽  
Panel Testing ◽  
Pathogenic Mutations ◽  
Gene Panel Testing ◽  
History Of

261 Background: Recently, genetic testing for hereditary cancer syndromes has seen numerous advances in testing spectrum, capability, and efficiency. This may have important implications for cancer survivors and their families. The purpose of this study is to evaluate the impact of reflex genetic testing with newer multi-gene panels on patients with prior negative BRCA1/2 tests. Methods: Data was collected retrospectively from patients who underwent multi-gene panel testing at one of three sites from a single institution between 8/2013-6/2015. Those with a personal history of breast or ovarian cancer and a prior negative BRCA1/2 test were included. Results: Of 914 patients who underwent multi-gene panel tests, 187 met study inclusion criteria. Ten patients (5.3%) were found to carry 11 pathogenic mutations, including 6 patients with mutations in CHEK2, 2 patients with mutations in PTEN, and 1 patient each with mutations in the following genes: BARD1, NF1, and RAD51C. One patient had two pathogenic mutations identified—CHEK2 and BARD1. Of 10 patients with mutations, 9 had a personal history of breast cancer diagnosed at a median age of 43 (range 35-52) and 1 had ovarian cancer diagnosed at age 65. A majority of mutation carriers underwent panel testing years after their cancer diagnosis (median 6 years, range 0.5-32 years) and none with delayed testing had undergone prophylactic contralateral mastectomy prior to the discovery of their gene mutation. All patients with mutations had a family history of at least one cancer, with most having a variety of cancer diagnoses in multiple relatives. Positive panel testing results altered clinical management in most patients, including addition of breast MRI, colonoscopy, or thyroid ultrasound depending on the gene mutation. After discovery of a PTEN mutation 19 years after her initial cancer treatment, one woman underwent bilateral prophylactic mastectomy and was found to have occult ductal carcinoma in situ. Conclusions: Cancer survivorship must incorporate advances in technology that may be beneficial even years after treatment has ended. Multi-gene panel testing can be applied in survivorship settings as a useful tool to guide screening recommendations.

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