Genetic testing of breast and ovarian cancer patients: clinical characteristics and hormonal risk modifiers

1999 ◽  
Vol 85 (1) ◽  
pp. 75-80 ◽  
Author(s):  
Luna Kaduri ◽  
Maya Gibs ◽  
Ayala Hubert ◽  
Michal Sagi ◽  
Norman Heching ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Clinical Characteristics ◽  
Breast And Ovarian Cancer ◽  
Risk Modifiers

scholarly journals Analysis of clinical characteristics in breast cancer patients with the Japanese founder mutation of BRCA1 L63X.

2015 ◽  
Vol 33 (28_suppl) ◽  
pp. 22-22
Author(s):  
Reiko Yoshida ◽  
Mayuko Inuzuka ◽  
Tomoko Watanabe ◽  
Junko Yotsumoto ◽  
Takashi Kuwayama ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Patients ◽  
Clinical Characteristics ◽  
Founder Mutation ◽  
Breast Cancers ◽  
Pathological Features ◽  
Breast Cancer Patients ◽  
Breast And Ovarian Cancer ◽  
Brca1 Mutations

22 Background: Hereditary breast and ovarian cancer (HBOC) is a high-penetrance inherited disease, and founder mutation has been reported in the West. However, there are yet no reports of founder mutation of HBOC on breast cancer in the Japanese population. In this study, we report the breast cancer clinical characteristics of L63X, which is one of the founder mutations in BRCA1 in the Japanese population. Methods: Data on 223 affected breast cancer patients (28 BRCA1 carriers, 19 BRCA2 carriers, and 176 non-carriers) were collected at Showa University in Tokyo from September 2010 to June 2015. In 22 independent mutations of BRCA1, the L63X mutation was detected in 9 patients. Data regarding the age of breast cancer onset, pathological features, clinical features, and family history were collected. Results: The age of onset was no significant differences between the L63X mutation and other BRCA1 mutations (39.7 vs. 38.5years). The proportion of triple negative breast cancer patients was 87.5% in the L63X mutation carriers and 89.5% in other BRCA1 mutation carriers. No patients of the L63X affected bilateral breast cancers. On the other hand, 36.7% of other BRCA1mutations affected bilateral breast cancers. There was no significant difference in pathological features (intrinsic subtype, nuclear grade and ki-67 index). The L63X carriers tended to have a family history of breast cancers. All L63X mutations were detected in the Eastern part of Japan. Conclusions: The breast cancer clinical characteristics of L63X might be considered no different from other types of BRCA1 mutations. Recently, it has been reported that breast and ovarian cancer risks varied according to the type and location of BRCA1/2 mutations. L63X mutation is located in the breast cancer cluster region in BRCA1. Further investigation is necessary for appropriate validation and accumulation of data.

Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients

2002 ◽  
Vol 116A (1) ◽  
pp. 11-19 ◽  
Author(s):  
Erna Claes ◽  
Gerry Evers-Kiebooms ◽  
Andrea Boogaerts ◽  
Marleen Decruyenaere ◽  
Lieve Denayer ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Breast And Ovarian Cancer

scholarly journals Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients

2019 ◽  
Vol 37 (15) ◽  
pp. 1305-1315 ◽  
Author(s):  
Allison W. Kurian ◽  
Kevin C. Ward ◽  
Nadia Howlader ◽  
Dennis Deapen ◽  
Ann S. Hamilton ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Population Based ◽  
Cancer Type ◽  
Breast Cancer Patients ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Variants ◽  
Genetic Test Results

PURPOSE Genetic testing for cancer risk has expanded rapidly. We examined clinical genetic testing and results among population-based patients with breast and ovarian cancer. METHODS The study included all women 20 years of age or older diagnosed with breast or ovarian cancer in California and Georgia between 2013 and 2014 and reported to the SEER registries covering the entire state populations. SEER data were linked to results from four laboratories that performed nearly all germline cancer genetic testing. Testing use and results were analyzed at the gene level. RESULTS There were 77,085 patients with breast cancer and 6,001 with ovarian cancer. Nearly one quarter of those with breast cancer (24.1%) and one third of those with ovarian cancer (30.9%) had genetic test results. Among patients with ovarian cancer, testing was lower in blacks (21.6%; 95% CI, 18.1% to 25.4%; v whites, 33.8%; 95% CI, 32.3% to 35.3%) and uninsured patients (20.8%; 95% CI, 15.5% to 26.9%; v insured patients, 35.3%; 95% CI, 33.8% to 36.9%). Prevalent pathogenic variants in patients with breast cancer were BRCA1 (3.2%), BRCA2 (3.1%), CHEK 2 (1.6%), PALB2 (1.0%), ATM (0.7%), and NBN (0.4%); in patients with ovarian cancer, prevalent pathogenic variants were BRCA1 (8.7%), BRCA2 (5.8%), CHEK2 (1.4%), BRIP1 (0.9%), MSH2 (0.8%), and ATM (0.6%). Racial/ethnic differences in pathogenic variants included BRCA1 (ovarian cancer: whites, 7.2%; 95% CI, 5.9% to 8.8%; v Hispanics, 16.1%; 95% CI, 11.8% to 21.2%) and CHEK2 (breast cancer: whites, 2.3%; 95% CI, 1.8% to 2.8%; v blacks, 0.1%; 95% CI, 0% to 0.8%). When tested for all genes that current guidelines designate as associated with their cancer type, 7.8% of patients with breast cancer and 14.5% of patients with ovarian cancer had pathogenic variants. CONCLUSION Clinically-tested patients with breast and ovarian cancer in two large, diverse states had 8% to 15% prevalence of actionable pathogenic variants. Substantial testing gaps and disparities among patients with ovarian cancer are targets for improvement.

scholarly journals 1773P Mainstreamed genetic testing for French breast and ovarian cancer patients and its utility during the COVID-19 pandemic

2020 ◽  
Vol 31 ◽  
pp. S1028
Author(s):  
P.R. Benusiglio ◽  
C. Korenbaum ◽  
J. Ezenfis ◽  
S. Geoffron ◽  
C. Paul ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Breast And Ovarian Cancer

scholarly journals Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic

2020 ◽  
Vol 63 (12) ◽  
pp. 104098
Author(s):  
Patrick R. Benusiglio ◽  
Clément Korenbaum ◽  
Roseline Vibert ◽  
Joël Ezenfis ◽  
Sophie Geoffron ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Breast And Ovarian Cancer

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.

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