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Objective: Although the molecular etiology of breast
cancer is not clearly known, hereditary genetic causes are responsible for
approximately 10%. In addition to BRCA1 and BRCA2 genes, there are many genes
that cause breast cancer. In this study, we performed a hereditary cancer
genetic panel test among hereditary breast cancer patients who are negative for
BRCA1 and BRCA2 genes. Accordingly, the frequency of mutations, causing
hereditary cancer among Turkish breast cancer patients, was investigated.
Method: All the 70 patients were unrelated and
provided BRCA testing criteria according to the National Comprehensive Cancer
Network guidelines, but they were reported as unfavorable. Qiagen large
hereditary cancer panel and Hereditary Cancer Solution v1.1 panel were used for
sequencing. The sequencing process was performed on the Illumina MiSeq system.
The data analyses were performed on QIAGEN Clinical Insight (QCI™) Analyze
software and Sophia DDM software.
Results: Of 70 patients, 6
(8.5%) were found to carry a pathogenic, and 1 (1.4%) were found to give a
likely pathogenic mutation. Pathogenic variants were detected in ATM, NBN,
PTEN, RAD51C genes; the likely pathogenic variant was discovered in the MUTYH
gene. Only, PTEN:c.407G>A mutation was found in two patients; the other
mutations were detected once in each patient. A nonsense alteration,
RAD51C:c.907G>T, was described as novel variant. The variant of uncertain
significance variants was detected in 10 patients (14.2%).
Conclusions: It is essential to
perform the hereditary cancer panel from index cases in families with high
cancer incidence, whose BRCA1/2 negative and molecular background has not been
elucidated, for preventive health policies. In addition, the identification of
common familial cancer genes will guide personalized therapy planning.
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Primary Language | English |
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Subjects | Health Care Administration |
Journal Section | Medical Science Research Articles |
Authors | |
Project Number | Yok. |
Publication Date | September 30, 2019 |
Acceptance Date | September 27, 2019 |
Published in Issue | Year 2019Volume: 41 Issue: 3 |