Genetic Testing in a Population-Based Sample of Breast and Ovarian Cancer Survivors from the REACH Randomized Trial: Cost Barriers and Moderators of Counseling Mode

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.

Download Full-text

Coming of age in Canada: a study of population-based genetic testing for breast and ovarian cancer

Current Oncology ◽

10.3747/co.24.3828 ◽

2017 ◽

Vol 24 (5) ◽

pp. 282 ◽

Cited By ~ 7

Author(s):

M.R. Akbari ◽

N. Gojska ◽

S.A. Narod

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

Coming Of Age ◽

Population Based ◽

Breast And Ovarian Cancer

-

Download Full-text

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

Journal of Clinical Oncology ◽

10.1200/jco.18.01854 ◽

2019 ◽

Vol 37 (15) ◽

pp. 1305-1315 ◽

Cited By ~ 66

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.

Download Full-text

Population-based genetic testing of asymptomatic women for breast and ovarian cancer susceptibility

Genetics in Medicine ◽

10.1038/s41436-018-0277-0 ◽

2018 ◽

Vol 21 (4) ◽

pp. 913-922 ◽

Cited By ~ 14

Author(s):

Simone M. Rowley ◽

Lyon Mascarenhas ◽

Lisa Devereux ◽

Na Li ◽

Kaushalya C. Amarasinghe ◽

...

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

Cancer Susceptibility ◽

Population Based ◽

Breast And Ovarian Cancer ◽

Asymptomatic Women

Download Full-text

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain)

BMC Cancer ◽

10.1186/s12885-019-6277-x ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 1

Author(s):

Ainara Ruiz de Sabando ◽

Edurne Urrutia Lafuente ◽

Fermín García-Amigot ◽

Angel Alonso Sánchez ◽

Lourdes Morales Garofalo ◽

...

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

General Population ◽

Risk Groups ◽

Population Based ◽

Molecular Characteristics ◽

Breast And Ovarian Cancer ◽

High Association ◽

Pathologic Features ◽

Advanced Stages

Abstract Background Genetic testing for BRCA1/2 genes is widely used as a strategy to reduce incidence and morbidity of hereditary breast and ovarian cancer (HBOC). The purpose of this study is to analyse the demographic and molecular characteristics of BRCA germline mutations in Navarra, Spain, and to investigate the clinical profile of hereditary and sporadic breast cancer (BC) and ovarian cancer (OC) in the Community. Methods The study includes 1246 individuals assessed for BRCA1/2 genetic testing in Navarra, during 2000–2016, and a cohort of BC (n = 4384) and OC (n = 561) from the population-based Navarra Cancer Registry. Distribution and molecular characteristics of BRCA1/2 mutations, as well as, comparative analysis of the clinical course, pathologic features and overall survival (OS) of patients in different risk groups were investigated. Results BRCA mutation detection rate was 16%, with higher proportion (63%) of BRCA2 families. Nineteen per cent of mutations were recurrent, one of which, BRCA2 c.6024dupG, showed high association to OC. BRCA carriers had double risk (95% CI = 1.04–4.33) of developing multiple malignancies than low risk families and were diagnosed at a much earlier age (16.6 and 11.7 years difference for BC and OC, respectively) when compared to the general population. For BC, BRCA carriers showed a more advanced histological stage, higher risk of bilateral neoplasms (OR = 4.3; 95% CI = 1.3–11.4, for BRCA2 carriers) and worse OS rate at 5-, 10- and 15- years, than women with sporadic tumors. For OC, over 70% of patients of all risk groups showed advanced stages at diagnosis, with the highest among BRCA1 carriers (91%). Furthermore, they also had higher probability of developing ovarian bilateral tumors (OR = 7.8, 95% CI = 1.7–55.7, for BRCA1 carriers) than the general population. Five-year OS rate was worse among women with sporadic OC than BRCA carriers, but it levelled out over the 15-year period. Conclusions In addition to national similarities in the HBOC-BRCA1/2 associated mutational spectrum, we identified a recurrent BRCA2 pathogenic variant (c.6024dupG), highly associated to OC in Navarra. Carriers of BRCA1/2 mutations showed a more severe BC and OC phenotype and had a worse overall prognosis when compared to a large cohort of women with sporadic counterpart tumors.

Download Full-text

Randomized trial of exercise on depressive symptomatology and brain derived neurotrophic factor (BDNF) in ovarian cancer survivors: The Women's Activity and Lifestyle Study in Connecticut (WALC)

Gynecologic Oncology ◽

10.1016/j.ygyno.2021.02.036 ◽

2021 ◽

Author(s):

Brenda Cartmel ◽

Meghan Hughes ◽

Elizabeth A. Ercolano ◽

Linda Gottlieb ◽

Fangyong Li ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Survivors ◽

Randomized Trial ◽

Neurotrophic Factor ◽

Depressive Symptomatology ◽

Brain Derived Neurotrophic Factor

Download Full-text

Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden.

Journal of Clinical Oncology ◽

10.1200/jco.1998.16.2.397 ◽

1998 ◽

Vol 16 (2) ◽

pp. 397-404 ◽

Cited By ~ 185

Author(s):

O T Jóhannsson ◽

J Ranstam ◽

A Borg ◽

H Olsson

Keyword(s):

Ovarian Cancer ◽

Cancer Patients ◽

Matched Control ◽

Brca1 Mutation ◽

Population Based ◽

Control Group ◽

Breast And Ovarian Cancer ◽

Population Based Study ◽

Matched Control Group ◽

Group Survival

PURPOSE Recent studies indicate that BRCA1 breast and ovarian tumors may have an advantageous survival. In this population-based study, the survival of carriers of a mutated BRCA1 gene was investigated. PATIENTS AND METHODS The survival of 71 BRCA1-associated cancer patients (33 breast cancer, seven breast and ovarian cancer, and 31 ovarian cancer patients from 21 families with BRCA1 germline mutations) diagnosed after 1958 was compared with that of a population-based comparison group that consisted of all other invasive breast (n = 28,281) and ovarian (n = 7,011) cancers diagnosed during 1958 to 1995, as well as an age- and stage-matched control group. RESULTS No apparent survival advantage was found for BRCA1-associated breast cancers upon direct comparison. After adjustment for age and calendar year of diagnosis, survival was equal to or worse than that of the comparison group (hazards ratio [HR], 1.5; 95% confidence interval [CI], 0.9 to 2.4). In comparison with an age- and stage-matched control group, survival again appeared equal or worse (HR, 1.5; 95% CI, 0.6 to 3.7). For BRCA1-associated ovarian cancers, an initial survival advantage was noted that disappeared with time. Due to this time dependency, multivariate analyses cannot adequately be analyzed. Compared with the age- and stage-matched control group, survival again appeared equal or worse (HR, 1.2; 95% CI, 0.5 to 2.8). CONCLUSION The results suggest that survival for carriers of a BRCA1 mutation may be similar, or worse than, that for breast and ovarian cancer in general. This finding is in accordance with the adverse histopathologic features observed in BRCA1 tumors and underlines the need for surveillance in families that carry a BRCA1 mutation.

Download Full-text