{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kotsopoulos J"],"funding":["Breast Cancer Research Foundation","NCI NIH HHS","NIH HHS","Canada Research Chair"],"pagination":["705"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12731516"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["32(12)"],"pubmed_abstract":["<h4>Background</h4>Carriers of a pathogenic variant (PV) in <i>BRCA1</i> face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location.<h4>Methods</h4><i>BRCA1</i> carriers with no personal history of breast cancer or bilateral mastectomy were included. Detailed information on clinical and family history was collected by questionnaire. Survival analysis was used to estimate 15-year cumulative risk according to PV type and location.<h4>Results</h4>A total of 3677 <i>BRCA1</i> carriers were followed for a mean of 7.2 years (range 0.1-15.0 years); 481 incident breast cancers were documented. Overall, the 15-year cumulative incidence was 25%. Risk estimates varied by exon, ranging from 9% (exon 21) to 19% (exon 12) to 36% ("],"journal":["Current oncology (Toronto, Ont.)"],"pubmed_title":["The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in &lt;i&gt;BRCA1&lt;/i&gt;."],"pmcid":["PMC12731516"],"funding_grant_id":["n/a","R35 CA253187, P50 CA116201","R35 CA253187","P50 CA116201"],"pubmed_authors":["Karlan BY","Monteiro AN","Lubinski J","Aeilts A","Ramon Y Cajal T","Foulkes WD","Sun P","Gronwald J","Singer CF","Akbari MR","Couch FJ","Hereditary Breast Cancer Clinical Study Group","Moller P","Bordeleau L","Fruscio R","Kotsopoulos J","Jorgji D","Apostol AI","Zakalik D","Narod SA","Kim RH","Metcalfe K","Tung N","Pal T","Cybulski C"],"additional_accession":[]},"is_claimable":false,"name":"The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in &lt;i&gt;BRCA1&lt;/i&gt;.","description":"<h4>Background</h4>Carriers of a pathogenic variant (PV) in <i>BRCA1</i> face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location.<h4>Methods</h4><i>BRCA1</i> carriers with no personal history of breast cancer or bilateral mastectomy were included. Detailed information on clinical and family history was collected by questionnaire. Survival analysis was used to estimate 15-year cumulative risk according to PV type and location.<h4>Results</h4>A total of 3677 <i>BRCA1</i> carriers were followed for a mean of 7.2 years (range 0.1-15.0 years); 481 incident breast cancers were documented. Overall, the 15-year cumulative incidence was 25%. Risk estimates varied by exon, ranging from 9% (exon 21) to 19% (exon 12) to 36% (","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-06-07T03:15:10.95Z","creation":"2026-06-07T03:07:28.945Z"},"accession":"S-EPMC12731516","cross_references":{"pubmed":["41440233"],"doi":["10.3390/curroncol32120705"]}}