Unravelling genetic variants of a swedish family with high risk of prostate cancer
Abstract Background Prostate cancer is the most prevalent cancer in men worldwide. It is a polygenic disease with a substantial proportion of heritability. Identification of novel candidate biomarkers is crucial for clinical cancer prevention and the development of therapeutic strategies. Here, we d...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-07-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13053-022-00234-0 |
| _version_ | 1811287264608649216 |
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| author | Serena Barilla Annika Lindblom Hafdis T. Helgadottir |
| author_facet | Serena Barilla Annika Lindblom Hafdis T. Helgadottir |
| author_sort | Serena Barilla |
| collection | DOAJ |
| description | Abstract Background Prostate cancer is the most prevalent cancer in men worldwide. It is a polygenic disease with a substantial proportion of heritability. Identification of novel candidate biomarkers is crucial for clinical cancer prevention and the development of therapeutic strategies. Here, we describe the analysis of rare and common genetic variants that can predispose to the development of prostate cancer. Methods Whole-genome sequencing was performed on germline DNA of five Swedish siblings which were diagnosed with prostate cancer. The high-risk variants were identified setting the minor allele frequency < 0.01, CADD > 10 and if tested in PRACTICAL, OR > 1.5, while the low-risk variants were identified minor allele frequency > 0.01, CADD > 10 and if tested in PRACTICAL, OR > 1.1. Results We identified 38 candidate high-risk gene variants and 332 candidate low-risk gene variants, where 2 and 14 variants were in coding regions, respectively, that were shared by the brothers with prostate cancer. Conclusions This study expanded the knowledge of potential risk factor candidates involved in hereditary and familial prostate cancer. Our findings can be beneficial when applying targeted screening in families with a high risk of developing the disease. |
| first_indexed | 2024-04-13T03:15:39Z |
| format | Article |
| id | doaj.art-c648e58d6df94962afcab5df55624de0 |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-04-13T03:15:39Z |
| publishDate | 2022-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-c648e58d6df94962afcab5df55624de02022-12-22T03:04:56ZengBMCHereditary Cancer in Clinical Practice1897-42872022-07-012011810.1186/s13053-022-00234-0Unravelling genetic variants of a swedish family with high risk of prostate cancerSerena Barilla0Annika Lindblom1Hafdis T. Helgadottir2Department of Molecular Medicine and Surgery, Karolinska InstituteDepartment of Molecular Medicine and Surgery, Karolinska InstituteDepartment of Molecular Medicine and Surgery, Karolinska InstituteAbstract Background Prostate cancer is the most prevalent cancer in men worldwide. It is a polygenic disease with a substantial proportion of heritability. Identification of novel candidate biomarkers is crucial for clinical cancer prevention and the development of therapeutic strategies. Here, we describe the analysis of rare and common genetic variants that can predispose to the development of prostate cancer. Methods Whole-genome sequencing was performed on germline DNA of five Swedish siblings which were diagnosed with prostate cancer. The high-risk variants were identified setting the minor allele frequency < 0.01, CADD > 10 and if tested in PRACTICAL, OR > 1.5, while the low-risk variants were identified minor allele frequency > 0.01, CADD > 10 and if tested in PRACTICAL, OR > 1.1. Results We identified 38 candidate high-risk gene variants and 332 candidate low-risk gene variants, where 2 and 14 variants were in coding regions, respectively, that were shared by the brothers with prostate cancer. Conclusions This study expanded the knowledge of potential risk factor candidates involved in hereditary and familial prostate cancer. Our findings can be beneficial when applying targeted screening in families with a high risk of developing the disease.https://doi.org/10.1186/s13053-022-00234-0Prostate cancerHereditaryGermlineWhole-genome sequencing |
| spellingShingle | Serena Barilla Annika Lindblom Hafdis T. Helgadottir Unravelling genetic variants of a swedish family with high risk of prostate cancer Hereditary Cancer in Clinical Practice Prostate cancer Hereditary Germline Whole-genome sequencing |
| title | Unravelling genetic variants of a swedish family with high risk of prostate cancer |
| title_full | Unravelling genetic variants of a swedish family with high risk of prostate cancer |
| title_fullStr | Unravelling genetic variants of a swedish family with high risk of prostate cancer |
| title_full_unstemmed | Unravelling genetic variants of a swedish family with high risk of prostate cancer |
| title_short | Unravelling genetic variants of a swedish family with high risk of prostate cancer |
| title_sort | unravelling genetic variants of a swedish family with high risk of prostate cancer |
| topic | Prostate cancer Hereditary Germline Whole-genome sequencing |
| url | https://doi.org/10.1186/s13053-022-00234-0 |
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