Long Term Outcomes of BRCA1/BRCA2 Mutation Testing

2004 ◽  
Author(s):  
Marc D. Schwartz
Keyword(s):  
Brca2 Mutation ◽  
Mutation Testing ◽  
Long Term Outcomes ◽  
Brca1 Brca2

scholarly journals 10 Global economic evaluation of population-based BRCA1/BRCA2 mutation testing

2019 ◽  
Author(s):  
R Manchanda ◽  
L Sun ◽  
S Patel ◽  
J Wilschut ◽  
A Lopes Carolina de Freitas ◽  
...  
Keyword(s):  
Economic Evaluation ◽  
Brca2 Mutation ◽  
Population Based ◽  
Mutation Testing ◽  
Brca1 Brca2

Long-term outcomes following a diagnosis of ovarian cancer at the time of preventive oophorectomy among BRCA1 and BRCA2 mutation carriers

2020 ◽  
Vol 30 (6) ◽  
pp. 825-830
Author(s):  
Joanne Kotsopoulos ◽  
Beth Karlan ◽  
Jacek Gronwald ◽  
Elizabeth Hall ◽  
Pal Moller ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Fallopian Tube ◽  
Brca2 Mutation ◽  
Effective Means ◽  
Long Term Outcomes ◽  
Brca1 And Brca2 ◽  
Fallopian Tube Cancer ◽  
Histologic Subtype ◽  
Mutation Carriers

IntroductionPreventive bilateral salpingo-oophorectomy is the most effective means of reducing the risk of ovarian cancer among women with an inherited BRCA1 or BRCA2 mutation. Some women are diagnosed with an invasive cancer (ovarian or fallopian tube) at the time of preventive surgery, referred to as an ‘occult’ cancer. The survival experience of these women is not known.MethodsWe estimated the 10-year survival for 52 BRCA mutation carriers diagnosed with an occult ovarian or fallopian tube cancer at the time of preventive bilateral salpingo-oophorectomy.ResultsThe mean age at diagnosis was 51.6 (range 33–69) years. All were serous cancers (although 14 were missing information on histologic subtype). Of the 20 cases with information available on stage at diagnosis, 10 were stage I, 1 was stage II, and 9 were stage III (n=32 missing). After a mean of 6.8 years, 12 women died (23%). The 10-year all-cause survival was 74%.ConclusionAlthough based on only 52 cases, these findings suggest a more favorable prognosis for BRCA mutation carriers diagnosed with an occult rather than incident disease.

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing

2015 ◽  
Vol 19 (2) ◽  
pp. 119-130 ◽  
Author(s):  
Daniela Dacheva ◽  
Rumyana Dodova ◽  
Ivan Popov ◽  
Teodora Goranova ◽  
Atanaska Mitkova ◽  
...  
Keyword(s):  
Brca2 Mutation ◽  
Mutation Testing ◽  
Brca1 Brca2

scholarly journals Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status

2010 ◽  
Vol 102 (7) ◽  
pp. 1091-1098 ◽  
Author(s):  
D G R Evans ◽  
A Moran ◽  
R Hartley ◽  
J Dawson ◽  
B Bulman ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Long Term Outcomes ◽  
Brca1 Brca2 ◽  
Tp53 Status
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