Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers

D Gareth Evans, Sivagamy Sithambaram, Elke M van Veen, George J Burghel, Helene Schlecht, Elaine Harkness, Helen J. Byers , Jamie Ellingford, Ashu Gandhi, Sacha J. Howell, Tony Howell, Claire Forde, Fiona Lalloo, William Newman, Miriam J Smith, Emma Woodward

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Abstract

Purpose:-To investigate frequency of germline pathogenic variants-(PVs) in women with ductal carcinoma in situ-(DCIS) and grade 1 invasive breast cancer-(G1BC).

Methods:-We undertook BRCA1/2 analysis in 311 women with DCIS and 392 with G1BC and extended panel testing (non-BRCA1/2) in 176/311 with DCIS and 156/392 with G1BC. We investigated PV detection by age at diagnosis, Manchester Score (MS), DCIS grade and receptor status.

Results:-30/311-(9.6%) with DCIS and 16/392 with G1BC (4.1%) had a BRCA1/2 PV (P=0.003), and 24/176-(13.6%) and 7/156-(4.5%) respectively a non-BRCA1/2 PV (P=0.004). Increasing MS was associated with increased likelihood of BRCA1/2 PV in both DCIS and G1BC, although the 10% threshold was not predictive for G1GB. 13/32 (40.6%) DCIS and 0/17 with G1BC
Conclusion:-DCIS is more likely to be associated with both BRCA1/2 and non-BRCA1/2 PVs than G1BC. Extended panel testing ought to be offered in young onset DCIS where PV detection rates are highest.
Original languageEnglish
JournalJournal of Medical Genetics
DOIs
Publication statusPublished - 28 Nov 2022

Research Beacons, Institutes and Platforms

  • Manchester Cancer Research Centre

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