scholarly journals Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

2006 ◽  
Vol 44 (2) ◽  
pp. 107-121 ◽  
Author(s):  
J. Simard ◽  
M. Dumont ◽  
A.-M. Moisan ◽  
V. Gaborieau ◽  
H. Vezina ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Risk Prediction ◽  
Prediction Models ◽  
Brca2 Mutation ◽  
French Canadian ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Risk Prediction Models ◽  
Testing Approach

scholarly journals The spectrum of the most common BRCA1/BRCA2 mutations in Lithuanian high risk families

Genetika ◽  
2017 ◽  
Vol 49 (1) ◽  
pp. 43-50
Author(s):  
Danielius Serapinas ◽  
Marius Sukys ◽  
Agne Bartkeviciute ◽  
Diana Barkauskiene ◽  
Daiva Bartkeviciene
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Brca2 Mutation ◽  
Health Science ◽  
University Hospital ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Incidence And Mortality ◽  
Brca2 Mutations ◽  
Brca1 Brca2

Breast cancer is the neoplasm with the highest incidence and mortality among women in Lithuania. The aim of the study was to determine the mutational incidence in BRCA1 and BRCA2 genes in high-risk breast and/or ovarian cancer families. After written informed consent, 36 participants from Lithuanian health science university hospital provided a blood sample for genetic analysis. Molecular diagnostics was done for 6 BRCA1and BRCA2 mutations. From 36 tested subjects for BRCA1/BRCA2 mutations. Positive test for BRCA1/BRCA2 mutations test was found in 12 (33%) cases. Most common BRCA1 mutation was 5328insC - 6 (50%) cases, other mutations: 185delAG - 1 (8,3%), 300t>6(c61G) - 4 (33,3%), 4153 del A - 1 (8,3%). All mutations were BRCA1, but none of the women were positive for the analyzed BRCA2 mutation. The mean age when the cancer was diagnosed in BRCA1 mutations group was 40.40?3.39 comparing with the group without mutations - 43.29 ?2.52. Rates of BRCA1 and BRCA2 mutation testing are increasing in young women with breast and ovarian cancer. Detected mutations in BRCA1 contribute to up to one-third of the families with breast and ovarian cancer in Lithuania.

scholarly journals Breast Cancer Risks and Risk Prediction Models

Breast Care ◽  
2015 ◽  
Vol 10 (1) ◽  
pp. 7-12 ◽  
Author(s):  
Christoph Engel ◽  
Christine Fischer
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
At Risk ◽  
Risk Prediction ◽  
Clinical Management ◽  
Prediction Models ◽  
Cancer Risks ◽  
Large Variability ◽  
Risk Prediction Models ◽  
Mutation Carriers

BRCA1/2 mutation carriers have a considerably increased risk to develop breast and ovarian cancer. The personalized clinical management of carriers and other at-risk individuals depends on precise knowledge of the cancer risks. In this report, we give an overview of the present literature on empirical cancer risks, and we describe risk prediction models that are currently used for individual risk assessment in clinical practice. Cancer risks show large variability between studies. Breast cancer risks are at 40-87% for BRCA1 mutation carriers and 18-88% for BRCA2 mutation carriers. For ovarian cancer, the risk estimates are in the range of 22-65% for BRCA1 and 10-35% for BRCA2. The contralateral breast cancer risk is high (10-year risk after first cancer 27% for BRCA1 and 19% for BRCA2). Risk prediction models have been proposed to provide more individualized risk prediction, using additional knowledge on family history, mode of inheritance of major genes, and other genetic and non-genetic risk factors. User-friendly software tools have been developed that serve as basis for decision-making in family counseling units. In conclusion, further assessment of cancer risks and model validation is needed, ideally based on prospective cohort studies. To obtain such data, clinical management of carriers and other at-risk individuals should always be accompanied by standardized scientific documentation.

Indications for BRCA1 and BRCA2 mutation testing in hereditary breast and ovarian cancer families

2004 ◽  
Vol 22 (14_suppl) ◽  
pp. 9720-9720
Author(s):  
R. Schmutzler ◽  
U. Schwarz-Boeger ◽  
G. Bastert ◽  
Bender ◽  
Beckmann ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca2 Mutation ◽  
Mutation Testing ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2

Increased risk of cervical cancer in high-risk families with and without mutations in the BRCA1 and BRCA2 genes

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 5588-5588 ◽  
Author(s):  
K. Rhiem ◽  
C. Fischer ◽  
K. Bosse ◽  
B. Wappenschmidt ◽  
R. K. Schmutzler
Keyword(s):  
Ovarian Cancer ◽  
Cervical Cancer ◽  
High Risk ◽  
Cancer Registries ◽  
Cancer Center ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
Increased Risk ◽  
High Risk Families

5588 Background: In BRCA germline mutation carriers increased risks for cancer at other sites than breast and ovary have been reported. Methods: To evaluate the risk of BRCA-associated cancers, we conducted a cross-section analysis in 4405 individuals from 409 families with BRCA1 (n=86) or BRCA2 mutations (n=53) and 270 high risk BRCA1/2 negative families ascertained by the Familial Breast and Ovarian Cancer Center Cologne. We considered proven mutation carriers, individuals affected by breast and ovarian cancer and their first degree relatives and identified 921 individuals from BRCA1 (604 female; 317 male), 571 from BRCA2 (365 female; 206 male) and 2913 from BRCA1/2 negative (1938 female; 975 male) families that suffered from 677 cancers other than breast and ovarian cancers. Relative risks (RR) of the study group compared to the general population were evaluated by the standardized incidence ratio (SIR), using data from two German Cancer Registries. Results: The risk for cervical cancer is significantly increased in women from BRCA1 and BRCA2 positive (RR=4.59, 95% CI=2.20 to 8.44, and RR=3.69, 95% CI=1.20 to 8.61; p=<0.001) and from BRCA1/2 negative families (RR=2.97, 95% CI=1.88 to 4.45). Moreover, the risk for pancreatic cancer in women from BRCA2 positive and BRCA1/2 negative families as well as the risk for prostate cancer in men from BRCA2 positive families is increased (RR=5.10, 95% CI=1.65 to 11.90; RR=1.98, 95% CI=1.02 to 3.46; RR=2.09; 95% CI=1.00 to 3.84). Conclusions: We here report an increased risk of cervical cancer for women from BRCA1 and BRCA2 positive and from BRCA1/2 negative high risk families, respectively. These results are in line with other studies in BRCA1 and 2 positive individuals and should be considered in the clinical risk management of these individuals. No significant financial relationships to disclose.

BRCA1 and BRCA2 Mutations in Breast and Ovarian Cancer Syndrome: Reflection on the Creighton University Historical Series of High Risk Families

2006 ◽  
Vol 5 (1) ◽  
pp. 15-20 ◽  
Author(s):  
Olga M. Sinilnikova ◽  
Sylvie Mazoyer ◽  
Colette Bonnardel ◽  
Henry T. Lynch ◽  
Steven A. Narod ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Historical Series ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations ◽  
High Risk Families

scholarly journals Risk Prediction Models for Liver Cancer in Adults: A Systematic Review and Meta-Analysis

2021 ◽  
Author(s):  
Maomao Cao ◽  
He Li ◽  
Dianqin Sun ◽  
Siyi He ◽  
Yadi Zheng ◽  
...  
Keyword(s):  
Systematic Review ◽  
High Risk ◽  
Liver Cancer ◽  
Risk Prediction ◽  
Prediction Models ◽  
Meta Analysis ◽  
Risk Of Bias ◽  
Risk Models ◽  
Risk Prediction Models ◽  
Prediction Risk

Abstract Background Prediction of liver cancer risk is beneficial to define high-risk population of liver cancer and guide clinical decisions. We aimed to review and critically appraise the quality of existing risk-prediction models for liver cancer. Methods This systematic review followed the guidelines of CHARMS (Checklist for Critical Appraisal and data extraction for systematic Reviews of prediction Modelling Studies) and Preferred Reporting Items for Systematic Reviews and Meta (PRISMA). We searched for PubMed, Embase, Web of Science, and the Cochrane Library from inception to July 2020. Prediction model Risk Of Bias Assessment Tool was used to assess the risk of bias of all potential articles. A narrative description and meta-analysis were conducted. Results After removal irrespective and duplicated citations, 20 risk prediction publications were finally included. Within the 20 studies, 15 studies performed model derivation and validation process, three publications only conducted developed procedure without validation and two articles were used to validate existing models. Discrimination was expressed as area under curve or C statistic, which was acceptable for most models, ranging from 0.64 to 0.96. Calibration of the predictions model were rarely assessed. All models were graded at high risk of bias. The risk bias of applicability in 13 studies was considered low. Conclusions This systematic review gives an overall review of the prediction risk models for liver cancer, pointing out several methodological issues in their development. No prediction risk models were recommended due to the high risk of bias.Systematic review registration: This systematic has been registered in PROSPERO (International Prospective Register of Systemic Review: CRD42020203244).

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