Article
The contribution of rare germline variants to the immune landscape of breast cancer.
Genome medicine - 9 May 2026
Rojas-Rodríguez Felipe, Canisius Sander, Keeman Renske, Bernstein Aaron J, Hurson Amber N, Ahearn Thomas U, Andrulis Irene L, Antoniou Antonis C, Behrens Sabine, Białkowska Katarzyna, Blows Fiona M, Bolla Manjeet K, Camp Nicola J, Cessna Melissa H, Chang-Claude Jenny, Chanock Stephen J, Dennis Joe, Devilee Peter, Dunning Alison M, Gronwald Jacek, Hamann Ute, Hollestelle Antoinette, Hooning Maartje J, Horlings Hugo M, Jager Agnes, Jakubowska Anna, Jones Brandt, Kaaks Rudolf, Kok Marleen, Lissowska Jolanta, Lubiński Jan, Manoochehri Mehdi, Miller Jodi L, Muhammad Noor, Mulligan Anna Marie, Obi Nadia, Rashid Muhammad U, Sinn Hans-Peter, van Deurzen Carolien H M, Wang Qin, Williams Justin A, Yang Xiaohong R, Easton Douglas F, Ali H Raza, García-Closas Montserrat, Pharoah Paul D P, Abubakar Mustapha, Schmidt Marjanka K
Abstract excerpt
BACKGROUND: Many breast cancer predisposition genes are involved in DNA damage repair, leading to genome instability that can impact immunosurveillance, neoantigen formation, and the composition of the tumor immune microenvironment. METHODS: Here, we explored associations between germline protein truncating variants (PTVs) in 34 (putative) breast cancer predisposition genes, of which 26 involved in DNA damage...
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