scholarly journals The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer

2021 ◽  
Author(s):  
Ciyu Yang ◽  
Angela G. Arnold ◽  
Amanda Catchings ◽  
Vikas Rai ◽  
Zsofia K. Stadler ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Hereditary Ovarian Cancer

scholarly journals Management of hereditary ovarian cancer

2011 ◽  
Vol 152 (40) ◽  
pp. 1596-1608 ◽  
Author(s):  
József Gábor Joó ◽  
Szabolcs Ládi ◽  
B. Zsolt Nagy ◽  
Zoltán Langmár
Keyword(s):  
Ovarian Cancer ◽  
Hereditary Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Ovarian Cancers ◽  
Brca2 Mutations ◽  
Histological Phenotype ◽  
Brca1 Brca2 ◽  
Brca1 And Brca2 Mutations ◽  
High Level ◽  
Associated Tumors

Mutations in BRCA1 and BRCA2 genes account for the majority of hereditary breast and ovarian cancers. Approximately 10% of cases of ovarian cancer are due to germline mutations in BRCA1 and BRCA2. Ovarian cancer associated with BRCA1 and BRCA2 mutations has a distinct histological phenotype. This type of cancer is predominantly of serous or endometrioid histology and is high grade. Patients with BRCA1 or BRCA2 mutations should be offered risk-reducing salpingo-oophorectomy by age 40 years, or when childbearing is complete. Nowadays there are no differences between the treatments provided for sporadic and hereditary ovarian cancer, although there are indications that targeted therapy is effective in women with BRCA1/BRCA2-associated tumors. Retrospective studies reveal a high level of sensitivity to platinum agents in BRCA-associated tumors and initial trials show good efficacy and tolerability for polyADP-ribose polymerase inhibitors in mutation carriers with advanced ovarian cancers. These agents might also potentially be used in chemoprevention. Authors review the current management of hereditary ovarian cancer. Orv. Hetil., 2011, 152, 1596–1608.

Hereditary ovarian cancer

1997 ◽  
Vol 9 (1) ◽  
pp. 3-7 ◽  
Author(s):  
Amelia A. Langston ◽  
Elaine A. Ostrander
Keyword(s):  
Ovarian Cancer ◽  
Hereditary Ovarian Cancer

scholarly journals Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic

2019 ◽  
Vol 32 (Suppl 2) ◽  
Author(s):  
Jana Soukupová ◽  
Klára Lhotová ◽  
Petra Zemánková ◽  
Michal Vočka ◽  
Markéta Janatová ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Czech Republic ◽  
Massive Parallel Sequencing ◽  
Hereditary Ovarian Cancer ◽  
The Czech Republic ◽  
Parallel Sequencing

Factors affecting surgical decision-making in carriers of BRCA1/2 pathogenic variants undergoing risk-reducing surgery at a dedicated hereditary ovarian cancer clinic

Menopause ◽  
2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Michelle R. Jacobson ◽  
Melissa Walker ◽  
Gabrielle E.V. Ene ◽  
Courtney Firestone ◽  
Marcus Q. Bernardini ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Decision Making ◽  
Hereditary Ovarian Cancer ◽  
Surgical Decision ◽  
Factors Affecting ◽  
Pathogenic Variants ◽  
Risk Reducing ◽  
Surgical Decision Making ◽  
Cancer Clinic

European/U.S. Comparison and Contrasts in Ovarian Cancer Screening and Prevention in a High-Risk Population

2017 ◽  
pp. 124-127
Author(s):  
Marian J. Mourits ◽  
G. H. de Bock
Keyword(s):  
United States ◽  
Ovarian Cancer ◽  
Cancer Screening ◽  
High Risk ◽  
The United States ◽  
High Risk Population ◽  
Genome Wide Association Studies ◽  
Hereditary Ovarian Cancer ◽  
Ovarian Cancer Screening ◽  
Screening And Prevention

The history of screening and prevention of ovarian cancer among high-risk women in the United States and Europe is one of mutual inspiration, with researchers learning from each others’ findings and insights and collaborating with investigators from both sides of the Atlantic ocean. Examples of simultaneous and joint development of knowledge and scientific points of view include the paradigm shift from ovarian to fallopian tube high-grade serous cancer and the cessation of simultaneous adoption of ovarian cancer screening by clinicians in both the United States and Europe. Examples of joint efforts with fruitful results include international collaboration in large population-based, genome-wide association studies and in epidemiologic database studies. Research in the field of hereditary ovarian cancer is a great example of mutual inspiration and joint efforts for the purpose of improving knowledge and health care for women with hereditary ovarian cancer.

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