scholarly journals Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer

2017 ◽  
Vol 6 (12) ◽  
pp. 3014-3024 ◽  
Author(s):  
Natalia Campacci ◽  
Juliana O. de Lima ◽  
André L. Carvalho ◽  
Rodrigo D. Michelli ◽  
Rafael Haikel ◽  
...  
Keyword(s):  
Family History ◽  
General Population ◽  
Hereditary Cancer ◽  
Population Development ◽  
Screening Questionnaire ◽  
Family History Of Cancer ◽  
The Family ◽  
History Of ◽  
Development And Validation ◽  
History Of Cancer

scholarly journals The Family-History of Cancer-Patients

BMJ ◽  
1884 ◽  
Vol 1 (1222) ◽  
pp. 1039-1040 ◽  
Author(s):  
W. R. Williams
Keyword(s):  
Family History ◽  
Cancer Patients ◽  
Family History Of Cancer ◽  
The Family ◽  
History Of ◽  
History Of Cancer

Association of family history and location of BRCA1 and BRCA2 mutations in triple-negative breast cancer patients.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e12588-e12588
Author(s):  
Yen Yen Tan ◽  
Daniela Muhr ◽  
Christine Rappaport-Fuerhauser ◽  
Daphne Gschwantler-Kaulich ◽  
Christoph Grimm ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Brca Mutation ◽  
Brca1 Mutation ◽  
Age At Onset ◽  
Family History Of Cancer ◽  
The Family ◽  
Brca1 Carriers ◽  
History Of ◽  
History Of Cancer

e12588 Background: We assessed the prevalence of family history and its association with germline BRCA1/2mutation status/location and age at onset in triple-negative breast cancer (TNBC) patients. Methods: 266 patients with TNBC < 60 years unselected for family history of cancer were enrolled and germline DNA was sequenced to identify mutations. Family pedigrees were prospectively collected from these patients. Logistic regression was used to investigate family history and its association with mutation type/location and age at onset. ROC curves were constructed to determine good predictors of BRCAmutations. Results: BRCA mutations were identified in 18.0% of all patients (15.0% BRCA1, 3.0% BRCA2). BRCA1 carriers have a significantly earlier age at onset than non-mutation carriers (40 vs 49 years; p < .001). While 39/124 (31.4%) patients with family history of cancer carried a BRCA1/2 mutation, 9/142 (6.3%) BRCA carriers had no family history of cancer. BRCA1 carriers with ≥1BC in the family are commonly identified in the breast cancer cluster regions (53.1%). BRCA2 carriers more commonly cluster within the ovarian cancer regions. Of note, this difference was not statistically significant. Women with mutations in BRCA1 OCCR are diagnosed at a younger age. TNBC diagnosed ≤45 years with ≥1BC and ≥1OC in the family are good predictors of BRCA1 mutation (AUC 0.867). Conclusions: Young women with TNBC and a family history of BC and OC are likely to have a BRCA mutation. Specific BRCA mutation locations may add to the identification of a subgroup of TNBC patients with a relatively higher risk of subsequent ovarian cancer. Identification of high-risk TNBC patients with BRCA1 mutation will enable clinicians to optimize cancer management for this phenotype, but will require further validation in larger studies.

Algorithm of monitoring of patients with family history of cancer as a method of cancer prevention

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 1542-1542
Author(s):  
V. D. Petrova ◽  
T. V. Sinkina ◽  
N. A. Zarubina ◽  
S. A. Terekhova ◽  
J. N. Dimitriadi ◽  
...  
Keyword(s):  
Family History ◽  
Cancer Prevention ◽  
Hereditary Cancer ◽  
Cancer Susceptibility ◽  
Molecular Genetic ◽  
Health Examination ◽  
Genetic Tests ◽  
Family History Of Cancer ◽  
History Of ◽  
History Of Cancer

1542 Background: Existent genetic tests are not able to provide effective forecasting of all cancer sites and all those methods are generally expensive. At the same time approximately 50% of population has cancer susceptibility and 10% - hereditary cancer syndromes. The purpose of this study was to develop the algorithm of monitoring to provide effective forecasting and prevention of cancer in patients with hereditary cancer susceptibility. Methods: The algorithm of monitoring of patients with family history of cancer includes 2 stage: I - diagnostic, II - treatment and rehabilitation. In the I stage patients with 3 and more relatives by blood who had cancers of any site are revealed by oncologist. Their genealogical trees are analyzed by geneticist. All those patients are registered in the registry of “cancer”-families’ members, interviewed and got all the necessary diagnostic procedures with the following multivariative analysis (of more than 200 geno- and phenotypic characteristics). Patients with determined high risk of malignancies undergo deep clinical and instrumental examination, site-by-site searching for cancer, molecular genetic tests. In the II stage individual recommendations for the patients are developed, pretumour lesions are treated, preventative surgery is performed (resection of a target organ) and the measures for strengthening of anti-tumour resistance are taken. All the patients of the registry get the periodic health examination for term of life: preventive examination once per 6 months, multivariative analysis once per 3 years. Results: The registry of “cancer”-families’ members included 421 families - 1833 patients (232 men and 1601 women at the age of 28–74). In 2003–2006 there were revealed obligatory pre-cancer lesions in 637 patients, cancers in situ - in 45 patients, and cancers of different sites - in 69 patients (in I stage - 78.3%, II stage - 18.9%, III stage - 2.8%, IV stage - 0). Conclusions: This algorithm of monitoring of the patients from the registry of “cancer”-families’ members made it possible to provide high effectiveness of cancer prevention and early detection. No significant financial relationships to disclose.

scholarly journals THE STUDY OF MISMATCH REPAIR IN ENDOMETRIAL CANCER PATIENTS WITH A FAMILY HISTORY OF CANCER

2015 ◽  
Vol 37 (4) ◽  
pp. 272-276 ◽  
Author(s):  
L G Buchynska ◽  
O Brieieva ◽  
K N Nekrasov ◽  
S V Nespryadko
Keyword(s):  
Endometrial Cancer ◽  
Family History ◽  
Microsatellite Instability ◽  
Mismatch Repair ◽  
Molecular Mechanisms ◽  
Tissue Samples ◽  
Family History Of Cancer ◽  
The Family ◽  
History Of ◽  
History Of Cancer

Aim: To assess the expression of mismatch repair (MMR) proteins MSH2 and MLH1 and carry out microsatellite analysis in patients with endometrial cancer (EC) with regard to the family history of cancer. Materials and Methods: Morphological and immunohistochemical study was performed on tumor tissue samples of 49 EC patients. Microsatellite instability was determined using PCR with primers which flank microsatellite region BAT-26. Results: A tendency to a decreased expression of both MSH2 and MLH1 markers in a group of EC patients with a family history of cancer as compared with a group without aggregation of cancer in family history was observed (labeling index — LI — was 36.1 ± 8.1% and LI 20.7 ± 9.1% versus LI 48.0 ± 5.8% and 33.8 ± 5.8%, respectively). It was determined that the number of EC patients with tumors deficient by expression of MMR markers was reliably higher in a group of patients with a family history of cancer than in a group of patients without aggregation of cancer in fami ly history (р < 0.05). It was shown that in a group of EC patients with a family history of cancer, MMR-proficient tumors were detected in 38.5% of cases. Microsatellite instability was determined in 10.7% of EC patients including one patient with aggregation of Lynch-associated tumors in family history. Conclusion: Family history of cancer of EC patients is associated with malfunctioning of the MMR system as well as may be related to alternative molecular mechanisms.

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