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.

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.

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.

Prospective WSG phase III PlanB trial: Final analysis of adjuvant 4xEC→4x doc vs. 6x docetaxel/cyclophosphamide in patients with high clinical risk and intermediate-to-high genomic risk HER2-negative, early breast cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 504-504 ◽  
Author(s):  
Nadia Harbeck ◽  
Oleg Gluz ◽  
Michael R. Clemens ◽  
Wolfram Malter ◽  
Toralf Reimer ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Early Breast Cancer ◽  
Triple Negative ◽  
Recurrence Score ◽  
Final Analysis ◽  
Clinical Risk ◽  
Central Pathology ◽  
High Clinical Risk

504 Background: Optimal chemotherapy in HER2-negative, particularly HR-positive, early breast cancer (EBC), especially the survival impact of anthracyclines, is still a matter of debate. Retrospective analyses saw most benefit of 6xCEF vs. 6xCMF in HER2+ EBC. Prospective trials have shown conflicting results; no predictive molecular factors have been validated so far, particularly for HR+ EBC. The WSG PlanB trial is the first trial that randomized only patients with high clinical risk or with Recurrence Score >11 in the HR+/HER2- subgroup (pN0-1). Patients with RS<11 (pN0-1) had an excellent prognosis (five-year DFS of 94%) with endocrine therapy alone (Gluz et al. ASCO 2016). Methods: The WSG PlanB trial was originally planned as a non-inferiority study for comparison of 6 cycles of anthracycline-free TC (Arm A) vs. standard anthracycline-taxane based chemotherapy (4xEC→4xDoc) (Arm B) in patients with high-risk pN0 (T2-4, G2-3, <35 years, or high uPA/PAI-1) or pN+ HER2- EBC. Following an early amendment, Oncotype DX was performed in all HR+ tumors, and omission of chemotherapy (CT) was recommended in RS≤11 HR+ pN0-1 disease. Primary endpoint was DFS, defined as time to any recurrence, secondary cancer or death. Final analysis for the CT randomization was planned after completed 5-year follow-up in all patients. Results: From 2009 to 2011, PlanB enrolled 3198 patients (n=3073 with central pathology review). In 348 patients (15.3%), CT was omitted based on RS≤11. 2449 patients were randomized to 6xTC (n=1222) and 4xEC→4xDoc (n=1227). Within this cohort, 41% were pN+, 42% had G3 tumors and 18% HR-negative tumors by central pathology. After median follow-up of 61 months, very similar five-year DFS of 89.9% [88.1%-91.7%] vs. 90.2% [88.4%-92.0%] and five-year OS of 94.7% [93.4%-96.1%] vs. 94.6% [93.2%-96.0%] were observed in Arms A vs. B. Five treatment-related deaths were observed in Arm A (TC) vs. one in Arm B (EC-Doc) (0.4% vs. 0.1%), despite a trend to more SAE’s in Arm B vs. Arm A (n=397 vs. 358). Although recurrence score is a strong prognostic factor, it was not predictive for anthracycline efficacy; no efficacy differences between the study arms were observed in (locally) triple-negative patients or in those with >4 involved lymph nodes, despite the prognostic impact of these factors. Conclusion: In the WSG PlanB trial, patients with early HER2-negative BC seem to be sufficiently treated by six cycles of docetaxel/cyclophosphamide compared to four cycles of EC followed by four cycles of docetaxel -- no efficacy differences are evident in high-risk subgroups defined by triple-negative status, nodal status, or high Recurrence Score. Further prospective studies are urgently needed before final conclusions for impact of anthracyclines in HER2-negative BC can be drawn. Clinical trial information: NCT01049425.

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

2006 ◽  
Vol 16 (S1) ◽  
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 ◽  
Cohort Study ◽  
High Risk ◽  
Hereditary Ovarian Cancer

High-risk epithelial ovarian cancer patients for hereditary ovarian cancer

2017 ◽  
Vol 43 (5) ◽  
pp. 929-934 ◽  
Author(s):  
Seksit Chirasophon ◽  
Tarinee Manchana ◽  
Chinachote Teerapakpinyo
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Epithelial Ovarian Cancer ◽  
Cancer Patients ◽  
Hereditary Ovarian Cancer

scholarly journals Surveillance of women at high risk for hereditary ovarian cancer is inefficient

2006 ◽  
Vol 94 (6) ◽  
pp. 814-819 ◽  
Author(s):  
A L Oei ◽  
L F Massuger ◽  
J Bulten ◽  
M J Ligtenberg ◽  
N Hoogerbrugge ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
High Risk ◽  
Hereditary Ovarian Cancer
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