publication . Article . 2017

DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS

G. A. Paul; N. A. Matyash; E. E. Pisareva; M. S. Anisimenko; A. E. Kozyakov; S. P. Kovalenko;
Open Access
  • Published: 01 Sep 2017 Journal: Siberian journal of oncology, volume 16, pages 84-88 (issn: 1814-4861, eissn: 2312-3168, Copyright policy)
  • Publisher: Tomsk Cancer Research Institute
Abstract
The BRCA1 5382insC and CHEK2 1100 delC mutations were analyzed in 3850 of non-selected breast cancer patients residing in Novosibirsk region, Russia. One hundred seventy probands, BRCA1 5382insC or CHEK2 1100delC mutation carriers, were found. The study demonstrated that more than 80 % of probands informed relatives about their hereditary or familial cancer risk. Fifty-nine BRCA1 5382insC and CHEK2 1100 delC mutation carriers were found among 144 proband’s relatives. Mutation carriers or their relatives were interviewed two years after starting the project. At least 18 % of the mutation carriers reported primary tumor or recurrence of the tumor 2 years after sta...
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Medical Subject Headings: skin and connective tissue diseases
free text keywords: hereditary cancer, mutation screening, brca1 5382insc mutation, chek2 1100delc mutation, CHEK2, Chek2 1100delc, BRCA1 5382insC, Internal medicine, medicine.medical_specialty, medicine, business.industry, business, Mutation, medicine.disease_cause, Primary tumor, medicine.disease, Breast cancer, Oncology, Cancer research, Proband, Familial Cancer, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, lcsh:RC254-282
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