ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come?
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| Název: | ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come? |
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| Autoři: | Abhenil Mittal, Raja Pramanik |
| Zdroj: | Ann Surg Oncol |
| Informace o vydavateli: | Springer Science and Business Media LLC, 2021. |
| Rok vydání: | 2021 |
| Témata: | BRCA2 Protein, 03 medical and health sciences, Germ Cells, 0302 clinical medicine, BRCA1 Protein, ASO Author Reflections, Humans, Breast Neoplasms, Female, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, 3. Good health |
| Popis: | For the young breast cancer population in India, the burden of hereditary breast cancer is not well defined. Moreover, genetic testing criteria (National Comprehensive Cancer Network and Mainstreaming Cancer Genetics (MCG) plus) have never been validated for the Indian population. Therefore, this study tested 236 consecutive breast cancer patients for germline pathogenic mutations using next-generation sequencing and reflex Multiplex Ligation Probe Amplification (MLPA). The findings showed a high prevalence of pathogenic/likely pathogenic (P/LP) mutations (18.64%), with 34% mutations in non BRCA genes. The sensitivity of the testing criteria was inadequate (88.6% for NCCN and 86.36% for MCG plus criteria), reiterating the need to expand the criteria. The uptake of cascade testing was low (10% of eligible previvors), highlighting this as an area of unmet need. Multicentric studies to validate these data and provide further insight into the hereditary cancer burden in India are the need of the hour. |
| Druh dokumentu: | Article Other literature type |
| Jazyk: | English |
| ISSN: | 1534-4681 1068-9265 |
| DOI: | 10.1245/s10434-021-10880-8 |
| Přístupová URL adresa: | https://link.springer.com/content/pdf/10.1245/s10434-021-10880-8.pdf https://pubmed.ncbi.nlm.nih.gov/34654988 https://www.ncbi.nlm.nih.gov/pubmed/34654988 https://pubmed.ncbi.nlm.nih.gov/34654988/ https://link.springer.com/article/10.1245/s10434-021-10880-8 https://link.springer.com/content/pdf/10.1245/s10434-021-10880-8.pdf |
| Rights: | Springer TDM |
| Přístupové číslo: | edsair.doi.dedup.....b3da808596863db500ba02e1e2fc121c |
| Databáze: | OpenAIRE |
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Nájsť tento článok vo Web of Science | Abstrakt: | For the young breast cancer population in India, the burden of hereditary breast cancer is not well defined. Moreover, genetic testing criteria (National Comprehensive Cancer Network and Mainstreaming Cancer Genetics (MCG) plus) have never been validated for the Indian population. Therefore, this study tested 236 consecutive breast cancer patients for germline pathogenic mutations using next-generation sequencing and reflex Multiplex Ligation Probe Amplification (MLPA). The findings showed a high prevalence of pathogenic/likely pathogenic (P/LP) mutations (18.64%), with 34% mutations in non BRCA genes. The sensitivity of the testing criteria was inadequate (88.6% for NCCN and 86.36% for MCG plus criteria), reiterating the need to expand the criteria. The uptake of cascade testing was low (10% of eligible previvors), highlighting this as an area of unmet need. Multicentric studies to validate these data and provide further insight into the hereditary cancer burden in India are the need of the hour. |
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| ISSN: | 15344681 10689265 |
| DOI: | 10.1245/s10434-021-10880-8 |