The course of distress in women at increased risk of breast and ovarian cancer due to an (identified) genetic susceptibility who opt for prophylactic mastectomy and/or salpingo-oophorectomy

2007 ◽  
Vol 43 (1) ◽  
pp. 95-103 ◽  
Author(s):  
P.J.C. Bresser ◽  
C. Seynaeve ◽  
A.R. Van Gool ◽  
M.F. Niermeijer ◽  
H.J. Duivenvoorden ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Susceptibility ◽  
Prophylactic Mastectomy ◽  
Breast And Ovarian Cancer ◽  
Increased Risk

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

scholarly journals Case series: Breast and ovarian cancer syndrome

2016 ◽  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca Mutation ◽  
Family Members ◽  
Case Series ◽  
Second Primary ◽  
Time Interval ◽  
Breast And Ovarian Cancer ◽  
Ovarian Carcinomas ◽  
Increased Risk

Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1,2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.

scholarly journals Elevated Bone Turnover Markers after Risk-Reducing Salpingo-Oophorectomy in Women at Increased Risk for Breast and Ovarian Cancer

PLoS ONE ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. e0169673 ◽  
Author(s):  
Ingrid E. Fakkert ◽  
Eveline van der Veer ◽  
Elske Marije Abma ◽  
Joop D. Lefrandt ◽  
Bruce H. R. Wolffenbuttel ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Bone Turnover ◽  
Bone Turnover Markers ◽  
Breast And Ovarian Cancer ◽  
Increased Risk ◽  
Turnover Markers ◽  
Risk Reducing

scholarly journals Bone mineral density and fractures after risk-reducing salpingo-oophorectomy in women at increased risk for breast and ovarian cancer

2015 ◽  
Vol 51 (3) ◽  
pp. 400-408 ◽  
Author(s):  
Ingrid E. Fakkert ◽  
Elske Marije Abma ◽  
Iris G. Westrik ◽  
Joop D. Lefrandt ◽  
Bruce H.R. Wolffenbuttel ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Ovarian Cancer ◽  
Bone Mineral ◽  
Mineral Density ◽  
Breast And Ovarian Cancer ◽  
Increased Risk ◽  
Risk Reducing

Clinical Considerations in the Management of Individuals at Risk for Hereditary Breast and Ovarian Cancer

2002 ◽  
Vol 9 (6) ◽  
pp. 457-465 ◽  
Author(s):  
Mark E. Robson
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Clinical Management ◽  
Management Strategies ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Hereditary Risk ◽  
Increased Risk ◽  
Post Test ◽  
Clinical Considerations

Background Hereditary predisposition to breast and ovarian cancer, most commonly due to germline mutations in BRCA1 and BRCA2, has been recognized for many years. The optimal clinical management of individuals with such a predisposition is not yet completely defined. Methods The current literature regarding the clinical management of individuals at risk for hereditary breast and ovarian cancer was reviewed. Results Women with germline BRCA1 or BRCA2 mutations are at substantially increased risk for breast and ovarian cancer, although the risks may not be as high as originally reported. Current surveillance options are restricted in their effectiveness by both host and tumor factors as well as limitations of the techniques. Surgical prevention options, while effective, may be complicated by physical or psychological morbidity. Nonsurgical prevention options are under development. Conclusions The ability to define women as being at hereditary risk for breast and ovarian cancer facilitates the use of specialized surveillance and prevention strategies. Genetic testing, which plays a role in defining risk, requires careful pre- and post-test counseling to discuss the limitations of testing itself and available management strategies.

scholarly journals Developing a culturally targeted video to enhance the use of genetic counseling in Latina women at increased risk for hereditary breast and ovarian cancer

2019 ◽  
Vol 11 (1) ◽  
pp. 85-99 ◽  
Author(s):  
Alejandra Hurtado-de-Mendoza ◽  
Kristi D. Graves ◽  
Sara Gómez-Trillos ◽  
Minna Song ◽  
Lyndsay Anderson ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Latina Women ◽  
Breast And Ovarian Cancer ◽  
Increased Risk

scholarly journals Epidemiology and Genetic Susceptibility of Breast and Ovarian Cancer in Sardinian Population

2020 ◽  
Author(s):  
Grazia Palomba ◽  
Giuseppe Palmieri ◽  
Antonio Cossu ◽  
Panagiotis Paliogiannis ◽  
Maria Cristina Sini
Keyword(s):  
Ovarian Cancer ◽  
Genetic Susceptibility ◽  
Breast And Ovarian Cancer ◽  
Sardinian Population

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.

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