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.

Weight gain and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

2021 ◽  
Vol 132 ◽  
pp. S357-S358
Author(s):  
Shana Kim ◽  
Jan Lubinski ◽  
Tomasz Huzarski ◽  
Pal Moller ◽  
Susan Armel ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Weight Gain ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Mutation Carriers

Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention

2020 ◽  
Vol 19 (2) ◽  
pp. 143-151
Author(s):  
Talayeh S. Ghezelayagh ◽  
Lauren E. Stewart ◽  
Barbara M. Norquist ◽  
Deborah J. Bowen ◽  
Vivian Yu ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Prevention ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Perceptions Of Risk ◽  
Mutation Carriers

scholarly journals Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

PLoS ONE ◽  
2016 ◽  
Vol 11 (7) ◽  
pp. e0158801 ◽  
Author(s):  
Elena Vigorito ◽  
Karoline B. Kuchenbaecker ◽  
Jonathan Beesley ◽  
Julian Adlard ◽  
Bjarni A. Agnarsson ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Risk ◽  
Brca2 Mutation ◽  
Ovarian Cancer Risk ◽  
Fine Scale ◽  
Brca1 And Brca2 ◽  
Mutation Carriers ◽  
Causal Variants ◽  
Fine Scale Mapping

scholarly journals Outcome of ovarian cancer after breast cancer in BRCA1 and BRCA2 mutation carriers

2016 ◽  
Vol 115 (10) ◽  
pp. 1174-1178 ◽  
Author(s):  
Leendert H Zaaijer ◽  
Helena C van Doorn ◽  
Marian J E Mourits ◽  
Marc van Beurden ◽  
Joanne A de Hullu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca2 Mutation ◽  
Brca1 And Brca2 ◽  
Mutation Carriers

BRCA-like classification in ovarian cancer: Results from the AGO-TR1-trial.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 5546-5546 ◽  
Author(s):  
Lisa Katharina Richters ◽  
Philip C. Schouten ◽  
Stefan Kommoss ◽  
Jan Hauke ◽  
Alexander Burges ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Germline Mutation ◽  
Mutational Analysis ◽  
Brca2 Mutation ◽  
Promoter Hypermethylation ◽  
Brca1 And Brca2 ◽  
Mutation Status ◽  
Brca1 Promoter ◽  
Mutation Carriers ◽  
Significant Difference

5546 Background: BRCA associated cancers show a distinct pattern of genomic gains and losses that is associated with impaired repair of DNA double-strand breaks via homologous recombination (HR). We investigated whether BRCA1- and BRCA2-like classifiers could predict BRCA1 and BRCA2 mutation status in ovarian cancer. In addition, we explored whether promoter hypermethylation or mutations in other genes involved in DNA repair associate with a BRCA-like profile in ovarian cancer. Methods: The AGO-TR1 cohort study (NCT02222883 ) enrolled 525 consecutive patients with primary (PR) and platinum sensitive relapsed (RE) ovarian cancer to perform paired mutational analysis of germline and tumor tissue. We performed mutation panel sequencing, BRCA1 promoter hypermethylation and low-coverage whole genome sequencing to classify samples as BRCA1-like or BRCA2-like in 298 ovarian cancer samples (PR: n = 159, RE: n = 139). Results: A BRCA-like profile was observed in 58.1% of the samples without germline or somatic mutation in BRCA1/2 (n = 179; BRCA1-like: n = 26, BRCA2-like: n = 23, BRCA1- and 2-like: n = 55). There was no significant difference between PR- and RE-cases (54.5% vs 61.3%). 64 of 70 BRCA1 germline mutation carriers could be identified by the BRCA1-like classifier (sensitivity: 0.91). The BRCA2-like classifier identified BRCA2 germline mutation carrier with a sensitivity of 0.71 (17 of 24). The complementary use of both classifiers led to the detection of 22 of 25 somatic mutations in BRCA1 (16/16) or - 2 (6/9). Remarkably, 12 of 13 tumor samples from germline RAD51C mutation carriers were recognized by the BRCA1-like classifier (sensitivity: 0.92). No correlation of PALB2 mutation status (n = 7) with BRCA-like profile was observed. Of 28 tumor samples with a BRCA1 promoter hypermethylation 26 had a BRCA1-like profile (sensitivity: 0.93). Conclusions: A high number of ovarian cancer cases display a BRCA-like profile. Mutations (germline and somatic) in BRCA1, BRCA2, RAD51C as well as BRCA1 hypermethylation strongly associate with a BRCA-like profile and can explain 146 of 212 cases. Future studies will investigate whether the classifiers identify patients who benefit from HR-deficiency directed approaches beyond the BRCA mutation status. Clinical trial information: NCT02222883.

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