Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)
Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing mortality and...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Editorial Office of China Oncology
2024-02-01
|
| Series: | Zhongguo aizheng zazhi |
| Subjects: | |
| Online Access: | http://www.china-oncology.com/fileup/1007-3639/PDF/1710376770040-43245883.pdf |
| _version_ | 1797258717014523904 |
|---|---|
| author | China Anti-Cancer Association Tumor Biomarker Professional Committee, Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee |
| author_facet | China Anti-Cancer Association Tumor Biomarker Professional Committee, Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee |
| author_sort | China Anti-Cancer Association Tumor Biomarker Professional Committee, Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee |
| collection | DOAJ |
| description | Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing mortality and societal impact of these genetic diseases. Recent years have witnessed the increasing accessibility of BRCA germline mutation testing based on next generation sequencing technology. To further standardize the workflow for BRCA germline mutation screening in the Chinese population, a consensus development group was established by the China Anti-Cancer Association Tumor Biomarker Professional Committee and the Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee. Using an evidence-based approach and building upon literature reviews, the group formulated preliminary recommendations with quality assessments and evidence synthesis regarding common concerns in the process of BRCA germline testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in China (2024 edition)" was developed after summarization and revision. This consensus aims to provide evidence-based guidance and regulatory foundations for BRCA germline mutation screening in the Chinese population and lay the groundwork for further guideline development. |
| first_indexed | 2024-04-24T22:57:58Z |
| format | Article |
| id | doaj.art-442ea9e1dc614f028de9dbb82cbdbf1e |
| institution | Directory Open Access Journal |
| issn | 1007-3639 |
| language | English |
| last_indexed | 2024-04-24T22:57:58Z |
| publishDate | 2024-02-01 |
| publisher | Editorial Office of China Oncology |
| record_format | Article |
| series | Zhongguo aizheng zazhi |
| spelling | doaj.art-442ea9e1dc614f028de9dbb82cbdbf1e2024-03-18T02:19:08ZengEditorial Office of China OncologyZhongguo aizheng zazhi1007-36392024-02-0134222023410.19401/j.cnki.1007-3639.2024.02.010Expert consensus on population-based BRCA germline mutation screening in China (2024 edition)China Anti-Cancer Association Tumor Biomarker Professional Committee, Shanghai Anti-Cancer Association Tumor Biomarker Professional CommitteeGermline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing mortality and societal impact of these genetic diseases. Recent years have witnessed the increasing accessibility of BRCA germline mutation testing based on next generation sequencing technology. To further standardize the workflow for BRCA germline mutation screening in the Chinese population, a consensus development group was established by the China Anti-Cancer Association Tumor Biomarker Professional Committee and the Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee. Using an evidence-based approach and building upon literature reviews, the group formulated preliminary recommendations with quality assessments and evidence synthesis regarding common concerns in the process of BRCA germline testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in China (2024 edition)" was developed after summarization and revision. This consensus aims to provide evidence-based guidance and regulatory foundations for BRCA germline mutation screening in the Chinese population and lay the groundwork for further guideline development.http://www.china-oncology.com/fileup/1007-3639/PDF/1710376770040-43245883.pdf|expert consensus|brca1|brca2|homologous recombination|mutation screening|next-generation sequencing|germline mutation |
| spellingShingle | China Anti-Cancer Association Tumor Biomarker Professional Committee, Shanghai Anti-Cancer Association Tumor Biomarker Professional Committee Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) Zhongguo aizheng zazhi |expert consensus|brca1|brca2|homologous recombination|mutation screening|next-generation sequencing|germline mutation |
| title | Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) |
| title_full | Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) |
| title_fullStr | Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) |
| title_full_unstemmed | Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) |
| title_short | Expert consensus on population-based BRCA germline mutation screening in China (2024 edition) |
| title_sort | expert consensus on population based brca germline mutation screening in china 2024 edition |
| topic | |expert consensus|brca1|brca2|homologous recombination|mutation screening|next-generation sequencing|germline mutation |
| url | http://www.china-oncology.com/fileup/1007-3639/PDF/1710376770040-43245883.pdf |
| work_keys_str_mv | AT chinaanticancerassociationtumorbiomarkerprofessionalcommitteeshanghaianticancerassociationtumorbiomarkerprofessionalcommittee expertconsensusonpopulationbasedbrcagermlinemutationscreeninginchina2024edition |