Genetic counselors’ perspectives on population‐based screening for BRCA ‐related hereditary breast and ovarian cancer and Lynch syndrome

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.

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Diagnosis and prognosis of breast and ovarian cancer A population-based study of 234 women

Acta Oncologica ◽

10.1080/02841860310022481 ◽

2004 ◽

Vol 43 (2) ◽

pp. 175-181 ◽

Cited By ~ 9

Author(s):

Hans O. Thulesius ◽

Anna C. Lindgren ◽

Håkan L. Olsson ◽

Anders Håkansson

Keyword(s):

Ovarian Cancer ◽

Population Based ◽

Breast And Ovarian Cancer ◽

Population Based Study ◽

Diagnosis And Prognosis

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Hereditary Breast and Ovarian Cancer (HBOC): Clinical Features and Counseling for BRCA1 and BRCA2, Lynch Syndrome, Cowden Syndrome, and Li-Fraumeni Syndrome

Obstetrics and Gynecology Clinics of North America ◽

10.1016/j.ogc.2010.03.003 ◽

2010 ◽

Vol 37 (1) ◽

pp. 109-133 ◽

Cited By ~ 22

Author(s):

Lee P. Shulman

Keyword(s):

Ovarian Cancer ◽

Lynch Syndrome ◽

Clinical Features ◽

Cowden Syndrome ◽

Breast And Ovarian Cancer ◽

Brca1 And Brca2 ◽

Li Fraumeni Syndrome ◽

Li Fraumeni

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Increased Overall Mortality Even after Risk Reducing Surgery for BRCA-Positive Women in Western Sweden

Genes ◽

10.3390/genes10121046 ◽

2019 ◽

Vol 10 (12) ◽

pp. 1046

Author(s):

Anna Öfverholm ◽

Zakaria Einbeigi ◽

Antonia Wigermo ◽

Erik Holmberg ◽

Per Karsson

Keyword(s):

Ovarian Cancer ◽

General Population ◽

Cancer Incidence ◽

Population Based ◽

Pathology Report ◽

Breast And Ovarian Cancer ◽

Incidence And Mortality ◽

Incidence Risk ◽

Risk Reducing ◽

Overall Mortality

Women with BRCA variants have a high lifetime risk of developing breast and ovarian cancer. The aim of this study was to investigate the standard incidence ratios (SIR) for breast and ovarian cancer and standard mortality ratios (SMR) in a population-based cohort of women in Western Sweden, under surveillance and after risk reducing surgery. Women who tested positive for a BRCA variant between 1995–2016 (n = 489) were prospectively registered and followed up for cancer incidence, risk reducing surgery and mortality. The Swedish Cancer Register was used to compare breast and ovarian cancer incidence and mortality with and without risk reducing surgery for women with BRCA variants in comparison to women in the general population. SIR for breast cancer under surveillance until risk-reducing mastectomy (RRM) was 14.0 (95% CI 9.42–20.7) and decreased to 1.93 (95% CI 0.48–7.7) after RRM. The SIR for ovarian cancer was 124.6 (95% CI 59.4–261.3) under surveillance until risk reducing salpingo-oophorectomy (RRSO) and decreased to 13.5 (95% CI 4.34–41.8) after RRSO. The SMR under surveillance before any risk reducing surgery was 5.56 (95% 2.09–14.8) and after both RRM and RRSO 4.32 (95% CI 1.62–11.5). Women with cancer diagnoses from the pathology report after risk reducing surgery were excluded from the analyses. Risk reducing surgery reduced the incidence of breast and ovarian cancer in women with BRCA variants. However, overall mortality was significantly increased in comparison to the women in the general population and remained elevated even after risk reducing surgery. These findings warrant further research regarding additional measures for these women.

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Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

Cancers ◽

10.3390/cancers12020338 ◽

2020 ◽

Vol 12 (2) ◽

pp. 338 ◽

Cited By ~ 1

Author(s):

Matthew Richardson ◽

Hae Jung Min ◽

Quan Hong ◽

Katie Compton ◽

Sze Wing Mung ◽

...

Keyword(s):

Ovarian Cancer ◽

Health Care ◽

Genetic Testing ◽

Population Based ◽

Gene Panel ◽

Wait Times ◽

Genetic Counsellor ◽

Care Providers ◽

Cancer Genetic ◽

Breast And Ovarian Cancer

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.

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