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

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 Adequacy of family history taking in ovarian cancer patients: a population-based study

2012 ◽  
Vol 11 (3) ◽  
pp. 343-349 ◽  
Author(s):  
Anne M. van Altena ◽  
Sandra van Aarle ◽  
Lambertus A. L. M. Kiemeney ◽  
Nicoline Hoogerbrugge ◽  
Leon F. A. G. Massuger ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Cancer Patients ◽  
Population Based ◽  
History Taking ◽  
Population Based Study

scholarly journals Bowel obstruction in elderly ovarian cancer patients: A population-based study

2013 ◽  
Vol 129 (1) ◽  
pp. 107-112 ◽  
Author(s):  
Stephen J. Mooney ◽  
Megan Winner ◽  
Dawn L. Hershman ◽  
Jason D. Wright ◽  
Daniel L. Feingold ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Bowel Obstruction ◽  
Population Based ◽  
Population Based Study

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.

Searching for new genes responsible for unexplained hereditary breast and ovarian cancer patients.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e12516-e12516
Author(s):  
Alex Teule ◽  
Francisco Quiles ◽  
Rafael Valdes-Mas ◽  
Miguel Angel Pujana ◽  
Monica Salinas ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Exome Sequencing ◽  
Cancer Patients ◽  
Rare Variants ◽  
Individual Risk ◽  
Control Group ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
New Genes ◽  
Whole Exome

e12516 Background: About 10-20% of breast and ovarian cancer patients show family history of the disease. Germline mutations in the BRCA1 and BRCA2 genes are usually found in 20-25% of these cases, while the remaining ones are commonly known as BRCAX. Next generation sequencing (NGS) studies have the promise to expedite the identification of the genetic basis underlying BRCAX cases. Aim: To identify gene mutations associated with BRCAX cases by means of whole exome sequencing. Methods: Five selected BRCAX families with more than three affected individuals across at least three generations, and with an apparent dominant pattern of inheritance of the disease were selected in this study. All type of potential alterations of BRCA1/2and linkage to the corresponding loci were excluded in these families. For sequencing, libraries representing the whole exome of multiple affected individuals were obtained using the SureSelect Human All Exon 50 Mb Kit (Agilent) together with the Paired-End Sample Preparation Kit (Illumina) following manufacturers' protocols. Bioinformatics analysis to identify candidate variants present in each family was performed as previously described (PubMed ID: 21549337). Selected rare variants have been analyzed in a set of 288 controls and are currently being evaluated in 500 additional BRCAX cases. Results: By using the described workflow we have identified 16 candidate genes. They were selected based on the presence of rare missense variants that were not found in our control group, predicted as pathogenic using several algorithms (SIFT, PoplyPhen2, Condel and Mutation Taster). Currently, we are re-sequencing these genes in a set of BRCAX samples and complementarily performing loss-of-heterozigosity studies in tumor samples. Conclusions: Exome sequencing of 20 patients from 5 independent Spanish BRCAX families identified a list of putative new BRCAX genes that are currently in the process of validation. Identification of the genetic causes underlying breast and ovarian cancer in BRCAX families is paramount to perform genetic counseling and individual risk assessment in these patients.

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