scholarly journals Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

Author(s):  
Karoline B Kuchenbaecker ◽  
Lesley McGuffog ◽  
Daniel Barrowdale ◽  
Andrew Lee ◽  
Penny Soucy ◽  
...  
2010 ◽  
Vol 19 (11) ◽  
pp. 2859-2868 ◽  
Author(s):  
Christoph Engel ◽  
Beatrix Versmold ◽  
Barbara Wappenschmidt ◽  
Jacques Simard ◽  
Douglas F. Easton ◽  
...  

2014 ◽  
Vol 24 (1) ◽  
pp. 308-316 ◽  
Author(s):  
Paolo Peterlongo ◽  
Jenny Chang-Claude ◽  
Kirsten B. Moysich ◽  
Anja Rudolph ◽  
Rita K. Schmutzler ◽  
...  

PLoS ONE ◽  
2016 ◽  
Vol 11 (7) ◽  
pp. e0158801 ◽  
Author(s):  
Elena Vigorito ◽  
Karoline B. Kuchenbaecker ◽  
Jonathan Beesley ◽  
Julian Adlard ◽  
Bjarni A. Agnarsson ◽  
...  

2012 ◽  
Vol 21 (4) ◽  
pp. 645-657 ◽  
Author(s):  
Fergus J. Couch ◽  
Mia M. Gaudet ◽  
Antonis C. Antoniou ◽  
Susan J. Ramus ◽  
Karoline B. Kuchenbaecker ◽  
...  

2002 ◽  
Vol 8 (3) ◽  
pp. 92-97
Author(s):  
Elmar Stickeler ◽  
Ingo B Runnebaum

In Europe ovarian cancer represents the third most common cancer of the female genital tract, with 30,000 newly diagnosed patients per year. Family history is the most significant risk factor. Lifetime risk for ovarian cancer increases from 1.4% for women with a negative family history to 14.6-32.2% in women from affected families. About 5-10% of ovarian cancers are hereditary and supposed to occur in three different forms: hereditary breast and ovarian cancer syndrome (HBOC), site-specific hereditary ovarian cancer (HOC) and hereditary nonpolyposis colorectal cancer syndrome (HNPCC). HBOC and HOC account for 80-90% of the cases and are associated with inactivating germline mutations of the BRCA1 and BRCA2 genes. For BRCA1 and BRCA2 mutation carriers the cumulative risk by age 70 of developing ovarian cancer is 45-60% and 25-30%, respectively. Approximately 10-15% of familial ovarian cancers are related to the HNPCC syndrome with a cumulative ovarian cancer risk of 9% by age 70. Germline polymorphisms may further modify ovarian cancer risk. Bilateral prophylactic oophorectomy reduces the risk of developing ovarian cancer in HBOC and HOC families by 50%. Tubal ligation also significantly reduces the risk in BRCA1 mutation carriers (odds ratio 0.39). Knowledge of the genetic background provides an objective basis for individual risk assessment and prevention.


2010 ◽  
Vol 20 (Suppl 2) ◽  
pp. S31-S33 ◽  
Author(s):  
Ami Fishman

Knowledge of the potential association of parity, breastfeeding, and infertility treatment on breast and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers is important and should be a crucial part of genetic counseling. The discussion of parity and clinical management of infertility in these women is complex, and patient preferences should be considered. Ideally, these preferences should be informed by accurate information on the risks and benefits of the interventions considered. However, this important subject has been investigated in a relatively small number of studies, thus, the existing data remain somewhat limited, and the estimated risk of cancer in BRCA mutation carriers is imprecise.


Sign in / Sign up

Export Citation Format

Share Document