scholarly journals 247P Population-based testing for hereditary breast and ovarian cancer in a cohort of 1,346 patients from Southern Italy (Sicily): When historical background affects genetics

2020 ◽  
Vol 31 ◽  
pp. S338-S339
Author(s):  
D. Fanale ◽  
L. Incorvaia ◽  
M. Bono ◽  
V. Calò ◽  
D. Cancelliere ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Southern Italy ◽  
Population Based ◽  
Historical Background ◽  
Breast And Ovarian Cancer

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

1998 ◽  
Vol 16 (2) ◽  
pp. 397-404 ◽  
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.

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

2004 ◽  
Vol 43 (2) ◽  
pp. 175-181 ◽  
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

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

Genes ◽  
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.

scholarly journals Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)—Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes

Cancers ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 1158
Author(s):  
Lorena Incorvaia ◽  
Daniele Fanale ◽  
Giuseppe Badalamenti ◽  
Marco Bono ◽  
Valentina Calò ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Geographic Distribution ◽  
Southern Italy ◽  
Geographical Area ◽  
Clinical Information ◽  
Historical Background ◽  
University Hospital ◽  
Significant Heterogeneity ◽  
Pathogenic Variants ◽  
Sicilian Population

Recent advances in the detection of germline pathogenic variants (PVs) in BRCA1/2 genes have allowed a deeper understanding of the BRCA-related cancer risk. Several studies showed a significant heterogeneity in the prevalence of PVs across different populations. Because little is known about this in the Sicilian population, our study was aimed at investigating the prevalence and geographic distribution of inherited BRCA1/2 PVs in families from this specific geographical area of Southern Italy. We retrospectively collected and analyzed all clinical information of 1346 hereditary breast and/or ovarian cancer patients genetically tested for germline BRCA1/2 PVs at University Hospital Policlinico “P. Giaccone” of Palermo from January 1999 to October 2019. Thirty PVs were more frequently observed in the Sicilian population but only some of these showed a specific territorial prevalence, unlike other Italian and European regions. This difference could be attributed to the genetic heterogeneity of the Sicilian people and its historical background. Therefore hereditary breast and ovarian cancers could be predominantly due to BRCA1/2 PVs different from those usually detected in other geographical areas of Italy and Europe. Our investigation led us to hypothesize that a higher prevalence of some germline BRCA PVs in Sicily could be a population-specific genetic feature of BRCA-positive carriers.

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

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 338 ◽  
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.

Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from Western Sweden

2006 ◽  
Vol 6 (1) ◽  
pp. 35-41 ◽  
Author(s):  
Zakaria Einbeigi ◽  
Annika Bergman ◽  
Jeanne M. Meis-Kindblom ◽  
Anna Flodin ◽  
Cecilia Bjursell ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Gene Mutations ◽  
Population Based ◽  
Breast And Ovarian Cancer ◽  
Population Based Study ◽  
Brca Gene

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.

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