Controlateral Breast Cancer and Ovarian Cancer Risks in Cases with Primary Breast Cancer and BRCA1 Pathogenic Variants c.5266dup or c.4039del

Activity: Talk or presentation types › Poster presentation

Description

Women with germ-line pathogenic variant (PV) of BRCA1 and primary breast cancer (PBC) face significant future  risks of contralateral breast cancer (CBC) as well as ovarian cancer (OC).Data from previous published studies have suggested that individual breast and ovarian cancer risks could be modified by mutation position in the BRCA1 gene.  Founder variant c.5266dup has been associated with higher breast/ovarian cancer  risk  ratio than variant c.4039del.  In this study we aim to test if there is any difference in CBC and OC risks between two founder BRCA1 variants in the setting of PBC. 373 cases with PBC  in stage 1-3 and BRCA1 pathogenic founder  variant c.5266dup or c.4039del were followed up in time frame from year 1986 to year 2023.   The  follow-up  finished  when event of CBC or OC occured and case was censored if no event occurred till  the end of follow up ,  death  or prophylactic surgery (risk reducing controlateral mastectomy of bilateral saplingo-ophorectomy), whichever occurred first.Kaplan-Mier statistics method was used to calculate and compare risks.  . A total of 373 cases were enrolled in study,  242 with PV c.5266dup and 131 with PV c.4039del .  Mean follow-up time was 8.2  (+/- 1.1 , 95% CI) years for CBC and 7.9 (+/- 1.0, 95% CI) years for OC group.   There  were 41 CBC cases and 26 OC cases observed. 10 and 20  year cumulative risk was 21.4% and 44.2%  for CBC ,  12.6% and 25.6% for OC.  There was no statistically significant difference between PV c.5266dup and c.4039del in risks of CBC (Log-rank p= 0.801 ) or OC (Log-rank p= 0.224)  . In the case of PBC,  this study does not support any signficant difference in future CBC and OC risks between BRCA1 PV c.5266dup and c.4039del.
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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