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Felipe Rojas-Rodríguez: Rare Germline Variants Shape the Breast Tumor Immune Microenvironment
Felipe Rojas-Rodríguez/LinkedIn

Felipe Rojas-Rodríguez: Rare Germline Variants Shape the Breast Tumor Immune Microenvironment

Felipe Rojas-Rodríguez, Bioinformatician at Sanquin, shared a post on LinkedIn:

“Our latest paper is now published in Genome Medicine.

We investigated whether rare germline variants in breast cancer predisposition genes, some involved in DNA damage repair, shape the tumor immune microenvironment, using data from ~8,000 women in the BRIDGES study (Breast Cancer Association Consortium).

Carriers of protein-truncating variants in BRCA1, BRCA2, PALB2, and RAD51D showed higher CD163+ cell abundance, a marker of immunosuppressive, M2-like tumor-associated macrophages. These findings support a role for rare pathogenic germline variants in breast tumors immune composition.

Thank you to Marjanka Schmidt, Renske Keeman, and Sander Canisius at The Netherlands Cancer Institute, and to Paul Pharoah, Mustapha Abubakar and all collaborators within the Breast Cancer Association Consortium.”

Title: The contribution of rare germline variants to the immune landscape of breast cancer

Authors: Felipe Rojas-Rodríguez, Sander Canisius, Renske Keeman, Aaron J. Bernstein, Amber N. Hurson, Thomas U. Ahearn, Irene L. Andrulis, Antonis C. Antoniou, Sabine Behrens, Katarzyna Białkowska, Fiona M. Blows, Manjeet K. Bolla, Nicola J. Camp, Melissa H. Cessna, Jenny Chang-Claude, Stephen J. Chanock, Joe Dennis, Peter Devilee, Alison M. Dunning, Jacek Gronwald, Ute Hamann, Antoinette Hollestelle, Maartje J. Hooning, Hugo M. Horlings, Agnes Jager, Anna Jakubowska, Brandt Jones, Rudolf Kaaks, Marleen Kok, Jolanta Lissowska, Jan Lubiński, Mehdi Manoochehri, Jodi L. Miller, Noor Muhammad, Anna Marie Mulligan, Nadia Obi, Muhammad U. Rashid, Hans-Peter Sinn, Carolien H. M. van Deurzen, Qin Wang, Justin A. Williams, Xiaohong R. Yang, Douglas F. Easton, H. Raza Ali, Montserrat García-Closas, Paul D. P. Pharoah, Mustapha Abubakar, Marjanka K. Schmidt

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Felipe Rojas-Rodríguez: Rare Germline Variants Shape the Breast Tumor Immune Microenvironment

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Felipe Rojas-Rodríguez: Rare Germline Variants Shape the Breast Tumor Immune Microenvironment

Aaron J. Bernstein Agnes Jager Alison M. Dunning Amber N. Hurson Anna Jakubowska Anna Marie Mulligan Antoinette Hollestelle Antonis C Antoniou Brandt Jones Breast Cancer cancer Carolien H M van Deurzen Douglas F. Easton Felipe Rojas-Rodríguez Fiona M. Blows H. Raza Ali Hans-Peter Sinn Hugo M. Horlings Irene L. Andrulis Jacek Gronwald Jan Lubinski Jenny Chang-Claude Jodi L. Miller Joe Dennis Jolanta Lissowska Justin A. Williams Katarzyna Białkowska Maartje J. Hooning Manjeet K. Bolla Marleen Kok Mehdi Manoochehri Melissa H. Cessna Montserrat G Muhammad U. Rashid Nadia Obi Nicola J. Camp Noor Muhammad OncoDaily Oncology Peter Devilee Qin Wang Renske Keeman Rudolf Kaaks Sabine Behrens Sander Canisius Stephen J. Chanock Thomas U. Ahearn Ute Hamann Xiaohong R. Yang