Efficacy of screening women at high risk of hereditary ovarian cancer: results of an 11-year cohort study

2006 ◽  
Vol 16 (Suppl 1) ◽  
pp. 54-59 ◽  
Author(s):  
K. N. Gaarenstroom ◽  
B. Van Der Hiel ◽  
R. A.E.M. Tollenaar ◽  
G. R. Vink ◽  
F. W. Jansen ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Transvaginal Ultrasound ◽  
Stage Iiib ◽  
Prophylactic Surgery ◽  
Hereditary Ovarian Cancer ◽  
Stage Iiic ◽  
Peritoneal Cancer ◽  
One Stage

The outcome of screening and prophylactic surgery in 269 women at high risk of hereditary ovarian cancer is reported. Screening was performed using transvaginal ultrasound and serum CA125 testing. Mean follow-up was 26 months (583 person-years). A total of 113 (42%) of 269 women had a pathogenic BRCA1 or BRCA2 mutation, and 127 (47%) of 269 women underwent salpingo-oophorectomy. No occult cancers were found. In eight women having both elevated CA125 levels and abnormal ultrasound findings, a malignancy was found. Four of these cancers (one borderline, one stage Ia, one stage IIIb, and one stage IIIc ovarian or peritoneal cancer) were detected at the first screening visit. One stage IIIb and one stage IIIc cancer were detected at the second screening visit after 12 months, and two interval stage IIIc and IV cancers were detected 8 and 10 months after the first screening visit. No peritoneal carcinoma was found among those 114 women who underwent bilateral salpingo-oophorectomy with normal or benign pathology results, after a mean follow-up of 16 months (152 person-years). We conclude that the efficacy of screening women at high risk of ovarian cancer seems poor because the majority of cancers were detected at an advanced stage.

Screening for familial ovarian cancer—management and outcome of women with moderate to high risk of developing ovarian cancer

2006 ◽  
Vol 16 (Suppl 1) ◽  
pp. 86-91
Author(s):  
G. C. Rieck ◽  
K. Lim ◽  
M. T. Rogers ◽  
E. France ◽  
J. R. Gray ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Metastatic Breast ◽  
Prophylactic Surgery ◽  
Cancer Management ◽  
Post Surgery ◽  
Number Of Patients ◽  
Screening Clinic

Five percent to ten percent of ovarian cancers are hereditary. Individual genetic risk of developing ovarian malignancy is discussed in women. Currently, prophylactic surgery is advised to women with a moderate to high risk of developing ovarian cancer. Workload and outcome of the multidisciplinary familial ovarian screening clinic in South Wales were assessed. This was an observational study of 145 women registered with the Familial Ovarian Screening Clinic between January 1998 and December 2003. The data were retrieved from the medical notes. Yearly follow-ups were investigated with a transvaginal scan and CA125 level. Post-surgery women were followed up with yearly CA125 estimations: 46.9% fell into moderate-risk and 50.3% into high-risk category. The median age was 42 (SD 10.4), 71.7% were pre menopausal, and 10.3% had a personal history of breast cancer and 1.4% colon cancer. Whereas 36.5% opted for surgery, the remaining women (but two) opted for annual follow-up. Histology of the women who had surgery showed three cases of malignancies (fallopian tube carcinoma, atypical ovarian epithelial cells, and metastatic breast cancer). Seven women developed breast cancer during the observation period. The follow-up period is too short to come to a final conclusion as to the benefits of yearly screening in this group of women. In our series, a significant number of patients developed malignancies, despite prophylactic surgery.

scholarly journals BRCA1/2 associated cancer susceptibility: a clinical overview

2016 ◽  
Vol 7 (2) ◽  
pp. 16-24
Author(s):  
Georgios Lypas
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Physical Examination ◽  
Transvaginal Ultrasound ◽  
Parp Inhibitors ◽  
Prophylactic Surgery ◽  
Ca 125 ◽  
Cancer Risks ◽  
Increased Risk

Abstract The most frequently identified genetic cause of breast cancer is the germline mutation of BRCA1 and 2 genes. The carriers of these mutations are at high risk for breast and ovarian cancers and increased risk for pancreatic and prostate cancers. Personal and family history are routinely used to identify individuals at risk for carrying such mutations. Genetic counselling is required to guide them through genetic testing and risk management. Positive testing corresponds to a deleterious mutation, whereas negative testing is considered as uninformative; variants of unknown clinical significance are also classified as uninformative. The most effective risk reduction strategy involves bilateral prophylactic mastectomy and bilateral salpingo-oophorectomy, eliminating 90% of breast and 97% of ovarian cancer risks, respectively. Before and until such surgery, surveillance with physical examination, mammography and magnetic resonance mammography, starting at 25–30 years of age, are recommended for the early diagnosis of breast cancer; semi-annual surveillance with physical examination, transvaginal ultrasound and serum CA-125 is recommended for women who have not had prophylactic surgery. Carriers diagnosed with breast cancer run a high risk for a new breast primary and this information should be used accordingly. PARP inhibitors is a new class of antineoplastic agents, already approved for advanced BRCA1/2 mutant (germline or somatic) ovarian cancer. Multigene panel testing may follow a negative BRCA genetic test, often identifying other genetic causes of cancer, expanding its role in oncology. Further adoption of PARP inhibitors, refinement in estimation of BRCA-associated cancer risks and wider population testing, through NGS technology, may become available in the near future.

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.

Decision analysis of prophylactic mastectomy and oophorectomy in BRCA1-positive or BRCA2-positive patients.

1998 ◽  
Vol 16 (3) ◽  
pp. 979-985 ◽  
Author(s):  
V R Grann ◽  
K S Panageas ◽  
W Whang ◽  
K H Antman ◽  
A I Neugut
Keyword(s):  
Quality Of Life ◽  
Ovarian Cancer ◽  
High Risk ◽  
Surgical Procedures ◽  
Brca2 Gene ◽  
Cost Effective ◽  
Prophylactic Surgery ◽  
Breast And Ovarian Cancer ◽  
Prophylactic Surgical Procedures

PURPOSE Young Ashkenazi Jewish women or those from high-risk families who test positive for BRCA1 or BRCA2 mutant genes have a significant risk of developing breast or ovarian cancer by the age of 70 years. Many question whether they should have prophylactic surgical procedures, ie, bilateral mastectomy and/or oophorectomy. METHODS A Markov model was developed to determine the survival, quality of life, and cost-effectiveness of prophylactic surgical procedures. The probabilities of developing breast and ovarian cancer were based on literature review among women with the BRCA1 or BRCA2 gene and mortality rates were determined from Surveillance, Epidemiology, and End Results (SEER) data for 1973 to 1992. The costs for hospital and ambulatory care were estimated from Health Care Financing Administration (HCFA) payments in 1995, supplemented by managed care and fee-for-service data. Utility measures for quality-adjusted life-years (QALYs) were explicitly determined using the time-trade off method. Estimated risks for breast and ovarian cancer after prophylactic surgeries were obtained from the literature. RESULTS For a 30-year-old woman, according to her cancer risks, prophylactic oophorectomy improved survival by 0.4 to 2.6 years; mastectomy, by 2.8 to 3.4 years; and mastectomy and oophorectomy, by 3.3 to 6.0 years over surveillance. The QALYs saved were 0.5 for oophorectomy and 1.9 for the combined procedures in the high-risk model. Prophylactic surgeries were cost-effective compared with surveillance for years of life saved, but not for QALYs. CONCLUSION Among women who test positive for a BRCA1 or BRCA2 gene mutation, prophylactic surgery at a young age substantially improves survival, but unless genetic risk of cancer is high, provides no benefit for quality of life. Prophylactic surgery is cost-effective for years of life saved compared with other medical interventions that are deemed cost-effective.

scholarly journals Central radiology assessment of the randomized phase III open-label OVHIPEC-1 trial in ovarian cancer

2020 ◽  
Vol 30 (12) ◽  
pp. 1928-1934
Author(s):  
Simone N Koole ◽  
Leigh Bruijs ◽  
Cristina Fabris ◽  
Karolina Sikorska ◽  
Maurits Engbersen ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Peritoneal Cancer Index ◽  
Disease Recurrence ◽  
Phase Iii ◽  
Ct Scans ◽  
Recurrence Free Survival ◽  
Open Label ◽  
Free Survival ◽  
Peritoneal Cancer

IntroductionHyperthermic intraperitoneal chemotherapy (HIPEC) improved investigator-assessed recurrence-free survival and overall survival in patients with stage III ovarian cancer in the phase III OVHIPEC-1 trial. We analyzed whether an open-label design affected the results of the trial by central blinded assessment of recurrence-free survival, and tested whether HIPEC specifically targets the peritoneal surface by analyzing the site of disease recurrence.MethodsOVHIPEC-1 was an open-label, multicenter, phase III trial that randomized 245 patients after three cycles of neoadjuvant chemotherapy to interval cytoreduction with or without HIPEC using cisplatin (100 mg/m2). Patients received three additional cycles of chemotherapy after surgery. Computed tomography (CT) scans and serum cancer antigen 125 (CA125) measurements were performed during chemotherapy, and during follow-up. Two expert radiologists reviewed all available CT scans. They were blinded for treatment allocation and clinical outcome. Central revision included Response Evaluation Criteria in Solid Tumors (RECIST) 1.1 measurements and peritoneal cancer index scorings at baseline, during treatment, and during follow-up. Time to centrally-revised recurrence was compared between study arms using Cox proportional hazard models. Subdistribution models compared time to peritoneal recurrence between arms, accounting for competing risks.ResultsCT scans for central revision were available for 231 patients (94%) during neoadjuvant treatment and 212 patients (87%) during follow-up. Centrally-assessed median recurrence-free survival was 9.9 months in the surgery group and 13.2 months in the surgery+HIPEC group (HR for disease recurrence or death 0.72, 95% CI 0.55 to 0.94; p=0.015). The improved recurrence-free survival and overall survival associated with HIPEC were irrespective of response to neoadjuvant chemotherapy and baseline peritoneal cancer index. Cumulative incidence of peritoneal recurrence was lower after surgery+HIPEC, but there was no difference in extraperitoneal recurrences.ConclusionCentrally-assessed recurrence-free survival analysis confirms the benefit of adding HIPEC to interval cytoreductive surgery in patients with stage III ovarian cancer, with fewer peritoneal recurrences. These results rule out radiological bias caused by the open-label nature of the study.

Organizational forms and methods of early diagnosis of hereditary tumors

2020 ◽  
Vol 13 (4) ◽  
pp. 1-9
Author(s):  
Aleh Kuzniatsou ◽  
Andrei Shpakou
Keyword(s):  
Ovarian Cancer ◽  
Colon Cancer ◽  
High Risk ◽  
Early Diagnosis ◽  
Hereditary Cancer ◽  
Border Region ◽  
Organizational Forms ◽  
Hereditary Ovarian Cancer ◽  
Clinical Risk ◽  
High Clinical Risk

Background: With the development of genetic research in oncology, it has become possible to track and identify early and preclinical forms of hereditary oncological diseases, which allows timely and effective preventive and therapeutic measures in relation to relatives at risk. Aim of the study: Assessment of genetically determined neoplasms in the region and the development of organizational forms and methods for early diagnosis. Material and methods: 10,727 residents of the Belarus-Poland border region were examined. Clinical and medical history data of 2,054 patients with tumors of the breast (1406), ovaries (239), and colon (409) were analyzed. As a result of the questionnaire, three main observation groups were formed: “high risk of hereditary cancer”, “hereditary cancer suspected”, and “no risk of hereditary cancer”. Results: Register and hospital screenings were the most informative types of screening. Of the 149 HBC patients who underwent molecular genetic testing, BRCA1 gene mutations were found in 5.37%, 5382insC in all cases. Seven mutations were detected in 77 individuals with a diagnosis of HOC and in 6 cases 5382insC and in 2 - 4145delA. Signs of hereditary ovarian cancer and suspicion of it were found in 1.12%, including people who were found to have a high risk of hereditary ovarian cancer. By their effectiveness, register and hospital screenings significantly exceeded the population, p<0.01. 1.67% of women suffering from this disease met the high clinical risk criteria for hereditary ovarian cancer. A high clinical risk of hereditary tumor genesis was established in 0.73% of cases among patients with a diagnosis of colon cancer. Conclusions: The results of assessing the clinical risk of hereditary cancer according to population screening indicates that approximately 1.2% of the population has an increased clinical risk of developing hereditary breast, ovarian, and colon cancer.

Long-term follow-up of women enrolled in a randomized trial of adjuvant chemotherapy for early stage ovarian cancer (ICON1)

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 5509-5509 ◽  
Author(s):  
A. C. Swart
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Adjuvant Chemotherapy ◽  
Adjuvant Treatment ◽  
Early Stage ◽  
Risk Groups ◽  
P Value ◽  
Long Term Follow Up

5509 Background: ICON1 and a meta-analysis of all relevant trials demonstrated an improvement in 5 year recurrence-free and overall survival (RFS and OS) for women with early-stage epithelial ovarian cancer (ES EOC) treated with adjuvant chemotherapy compared to no adjuvant chemotherapy. We aimed to determine if this initial benefit is maintained long-term and whether benefit is different with different risk groups of patients defined by stage, grade and histology. Method: 477 women with ES EOC were recruited from centres in Italy (271 women) UK (195) Switzerland (11) between August 1991 and January 2000. 5-year results were presented at ASCO 2001. Systematic long-term follow up was planned and completed in May 2006. Results: With a median follow-up of 9.2 years, 168 women have developed recurrent disease or died and 144 women have died. The Hazard Ratio (HR) for RFS of 0.70 in favour of adjuvant chemotherapy (95% CI 0.52–0.95 p= 0.023) translated into an improvement of 10-year absolute RFS of 10% from 57 to 67%. For OS, HR was 0.74 (95% CI 0.53–1.02 p= 0.066), a corresponding improvement in 10-year absolute OS of 8% from 64% to 72%. 26% of patients died from causes other than ovarian cancer. Stage I patients were grouped as low (Ia, grade 1), medium (Ia grade 2, Ib or Ic grade 1) and high risk (Ia, grade 3, Ib or IC grade 2 or 3, any clear cell). The test of interaction between risk groups and adjuvant treatment for RFS and OS was 0.055 and 0.13, respectively. The HR, 95%CI and p value are summarised in the table . Conclusions The long-term benefit of adjuvant treatment on RFS is confirmed. There is clear evidence that adjuvant chemotherapy reduces the risk of recurrence/death or death alone in high-risk patients but not in the low-risk group. [Table: see text] [Table: see text]

Risk-reducing salpingo-oophorectomy and prophylactic mastectomy among BRCA mutation “previvors.”

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 1518-1518
Author(s):  
Laura L. Holman ◽  
Molly S Daniels ◽  
Amanda C. Brandt ◽  
Banu Arun ◽  
Elizabeth Keeler ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Screening ◽  
High Risk ◽  
Prophylactic Mastectomy ◽  
Brca Mutation ◽  
Premenopausal Women ◽  
Prophylactic Surgery ◽  
Ovarian Cancer Screening ◽  
Brca Mutation Carriers ◽  
Risk Reducing

1518 Background: We prospectively evaluated the timing and uptake of risk-reducing surgery in a cohort of female BRCA mutation carriers that have no personal cancer history (“previvors”). Methods: Patients at high risk of breast and ovarian cancer were enrolled between 2007 and 2011 and followed in a high-risk ovarian cancer screening clinic. Women were offered risk-reducing salpingo-oophorectomy (RRSO) and/or prophylactic mastectomy (PM) per guidelines. Their clinical data were recorded and analyzed using descriptive statistics. Results: Of 260 BRCA mutation carriers enrolled, 73 have no personal history of cancer and are “previvors.” Patients have been followed for a median of 26.5 months (1-50 months). The median age is 38 years, 81.1% are white, 16.2% are Ashkenazi Jewish, and 79.7% are premenopausal. BRCA1 carriers account for 43.2% of participants and 55.4% have a BRCA2 mutation. The majority of patients (77.6%) presented for ovarian cancer screening <1 year after their BRCA testing. In all, 60.8% of women underwent prophylactic surgery: 28.4% chose RRSO, 18.9% chose PM, and 13.5% chose both procedures. Postmenopausal women were more likely to choose RRSO, while uptake for both procedures was common for premenopausal women (Table, p=0.04). RRSO was also more likely in parous than nulliparous premenopausal women (35.2% vs 9% p=0.001). PM was not associated with parity (p=0.79). Of women that had both surgeries, 20% had them concurrently and 20% had PM first. Of the 60% that underwent RRSO first, all had their second surgery within 14 months. Conclusions: BRCA mutation “previvors” have a high overall uptake of prophylactic surgery. Premenopausal women are more likely to choose PM than postmenopausal women; reasons for this are unclear. “Previvors” that choose RRSO and PM typically have both surgeries within a fairly short timeframe. With the growing population of “previvors” in the US, further study of patient preferences regarding preventative surgery and long-term consequences is needed. [Table: see text]

Examining screening behaviors at a high-risk ovarian cancer clinic.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13047-e13047
Author(s):  
Courtney Lynam-Scherr ◽  
Kisha T Hope ◽  
Irene B. Helenowski ◽  
Masha Kocherginsky ◽  
Melissa Keene ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Insurance Coverage ◽  
Prophylactic Surgery ◽  
Ca 125 ◽  
Ovarian Cancer Risk ◽  
Race Ethnicity ◽  
The Impact ◽  
Screening Behaviors ◽  
High Risk Clinic

e13047 Background: Women with deleterious BRCA1/2mutations have a significantly increased lifetime risk to develop ovarian cancer. Prophylactic surgery can significantly reduce ovarian cancer risk. The Northwestern Ovarian Cancer Early Detection and Prevention Program (NOCEDPP) was established to monitor this high-risk population prior to risk-reducing surgery. For such patients, providers in the NOCEDPP recommend screening with CA-125 and transvaginal ultrasound (TVUS) biannually. The aim of this study was to examine screening rates of women who have not had surgery but attend the NOCEDPP. Methods: We reviewed electronic health records of 1,662 women who attended the NOCEDPP clinic between October 2005 – October 2015. Demographic and clinical characteristics and utilization of screening were analyzed retrospectively using descriptive statistics and Kruskal-Wallis H-tests to examine differences in screening rates by age, race, ethnicity and insurance type. Results: Of the 1,662 women initially identified, 385 had a known BRCA mutation, 303 had an appointment with at least 6 months between first and last procedure – the sample included in the final analysis. Compared with women ages 35-45 (median = 1.91) and 45+ (median = 1.18), women ages 20-35 attended the most screenings per year (median = 2.12) p = 0.001, a rate consistent with biannual recommendations. There were no significant differences in screening rate by race, ethnicity, or insurance coverage. Conclusions: Despite changes in national guidelines, providers in our high-risk clinic continue to recommend CA-125 and TVUS biannually. Our preliminary data indicates patients’ attendance is uninfluenced by race, ethnicity, or insurance coverage. Further exploration of the impact of age is warranted. Implication of findings indicate a high-risk clinic may positively impact screening behaviors above and beyond factors typically associated with non-adherence.

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