BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

Sharon E. Johnatty, Emma Tudini, Michael T. Parsons, Kyriaki Michailidou, Maria Zanti, Daffodil M. Canson, Aimee L. Davidson, Tamar Berger, Rasim Ozgur Rosti, Christian P. Kratz, Reinhard Kalb, Lisa J. McReynolds, Neelam Giri, Marcy E. Richardson, Tina Pesaran, Jordi Surrallés, Roser Pujol, Babu Rao Vundinti, Merin George, Kara N. Maxwell, Kate Nathanson, Susan Domchek, Moisés Ó. Fiesco-Roa, Sara Frias, Benilde García-de-Teresa, Marjolijn Jongmans, Seema Lalani, Merel Maiburg, Katrina Prescott, Rachel Robinson, Sulekha Rajagopalan, Lot Snijders Blok, Suzanna E.L. Temple, Kathy Tucker, Arleen D. Auerbach, Maria I. Cancio, Jennifer A. Kennedy, Margaret L. MacMillan, Rebecca Tryon, John E. Wagner, Michael Walsh, Nicholas J. Boddicker, Chunling Hu, Jeffrey N. Weitzel, Alexander J.M. Dingemans, Johanna Hadler, Nitsan Rotenberg, Lobna Ramadane-Morchadi, Miguel de la Hoya, Paul James, Thomas Van Overeem Hansen, Maaike P.G. Vreeswijk, Logan C. Walker, Shyam K. Sharan, Douglas F. Easton, Fergus Couch, Agata Smogorzewska, Adam Nelson, Joanne Ngeow, Marc Tischkowitz, Encarnacion Gomez-Garcia, Amanda B. Spurdle

Open source

DOI: 10.1016/j.ajhg.2025.10.007
Published: 2025-12
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2025.10.007,
title = {BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes},
author = {Sharon E. Johnatty and Emma Tudini and Michael T. Parsons and Kyriaki Michailidou and Maria Zanti and Daffodil M. Canson and Aimee L. Davidson and Tamar Berger and Rasim Ozgur Rosti and Christian P. Kratz and Reinhard Kalb and Lisa J. McReynolds and Neelam Giri and Marcy E. Richardson and Tina Pesaran and Jordi Surrallés and Roser Pujol and Babu Rao Vundinti and Merin George and Kara N. Maxwell and Kate Nathanson and Susan Domchek and Moisés Ó. Fiesco-Roa and Sara Frias and Benilde García-de-Teresa and Marjolijn Jongmans and Seema Lalani and Merel Maiburg and Katrina Prescott and Rachel Robinson and Sulekha Rajagopalan and Lot Snijders Blok and Suzanna E.L. Temple and Kathy Tucker and Arleen D. Auerbach and Maria I. Cancio and Jennifer A. Kennedy and Margaret L. MacMillan and Rebecca Tryon and John E. Wagner and Michael Walsh and Nicholas J. Boddicker and Chunling Hu and Jeffrey N. Weitzel and Alexander J.M. Dingemans and Johanna Hadler and Nitsan Rotenberg and Lobna Ramadane-Morchadi and Miguel de la Hoya and Paul James and Thomas Van Overeem Hansen and Maaike P.G. Vreeswijk and Logan C. Walker and Shyam K. Sharan and Douglas F. Easton and Fergus Couch and Agata Smogorzewska and Adam Nelson and Joanne Ngeow and Marc Tischkowitz and Encarnacion Gomez-Garcia and Amanda B. Spurdle},
year = {2025},
journal = {The American Journal of Human Genetics},
doi = {10.1016/j.ajhg.2025.10.007},
url = {https://doi.org/10.1016/j.ajhg.2025.10.007}
}

RIS

TY  - JOUR
TI  - BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
AU  - Sharon E. Johnatty
AU  - Emma Tudini
AU  - Michael T. Parsons
AU  - Kyriaki Michailidou
AU  - Maria Zanti
AU  - Daffodil M. Canson
AU  - Aimee L. Davidson
AU  - Tamar Berger
AU  - Rasim Ozgur Rosti
AU  - Christian P. Kratz
AU  - Reinhard Kalb
AU  - Lisa J. McReynolds
AU  - Neelam Giri
AU  - Marcy E. Richardson
AU  - Tina Pesaran
AU  - Jordi Surrallés
AU  - Roser Pujol
AU  - Babu Rao Vundinti
AU  - Merin George
AU  - Kara N. Maxwell
AU  - Kate Nathanson
AU  - Susan Domchek
AU  - Moisés Ó. Fiesco-Roa
AU  - Sara Frias
AU  - Benilde García-de-Teresa
AU  - Marjolijn Jongmans
AU  - Seema Lalani
AU  - Merel Maiburg
AU  - Katrina Prescott
AU  - Rachel Robinson
AU  - Sulekha Rajagopalan
AU  - Lot Snijders Blok
AU  - Suzanna E.L. Temple
AU  - Kathy Tucker
AU  - Arleen D. Auerbach
AU  - Maria I. Cancio
AU  - Jennifer A. Kennedy
AU  - Margaret L. MacMillan
AU  - Rebecca Tryon
AU  - John E. Wagner
AU  - Michael Walsh
AU  - Nicholas J. Boddicker
AU  - Chunling Hu
AU  - Jeffrey N. Weitzel
AU  - Alexander J.M. Dingemans
AU  - Johanna Hadler
AU  - Nitsan Rotenberg
AU  - Lobna Ramadane-Morchadi
AU  - Miguel de la Hoya
AU  - Paul James
AU  - Thomas Van Overeem Hansen
AU  - Maaike P.G. Vreeswijk
AU  - Logan C. Walker
AU  - Shyam K. Sharan
AU  - Douglas F. Easton
AU  - Fergus Couch
AU  - Agata Smogorzewska
AU  - Adam Nelson
AU  - Joanne Ngeow
AU  - Marc Tischkowitz
AU  - Encarnacion Gomez-Garcia
AU  - Amanda B. Spurdle
PY  - 2025
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2025.10.007
UR  - https://doi.org/10.1016/j.ajhg.2025.10.007
ER  -

APA

Johnatty, S. E., Tudini, E., Parsons, M. T., Michailidou, K., Zanti, M., Canson, D. M., Davidson, A. L., Berger, T., Rosti, R. O., Kratz, C. P., Kalb, R., McReynolds, L. J., Giri, N., Richardson, M. E., Pesaran, T., Surrallés, J., Pujol, R., Vundinti, B. R., George, M., Maxwell, K. N., Nathanson, K., Domchek, S., Fiesco-Roa, M. Ó., Frias, S., García-de-Teresa, B., Jongmans, M., Lalani, S., Maiburg, M., Prescott, K., Robinson, R., Rajagopalan, S., Blok, L. S., Temple, S. E., Tucker, K., Auerbach, A. D., Cancio, M. I., Kennedy, J. A., MacMillan, M. L., Tryon, R., Wagner, J. E., Walsh, M., Boddicker, N. J., Hu, C., Weitzel, J. N., Dingemans, A. J., Hadler, J., Rotenberg, N., Ramadane-Morchadi, L., Hoya, M. D. L., James, P., Hansen, T. V. O., Vreeswijk, M. P., Walker, L. C., Sharan, S. K., Easton, D. F., Couch, F., Smogorzewska, A., Nelson, A., Ngeow, J., Tischkowitz, M., Gomez-Garcia, E., & Spurdle, A. B. (2025). BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.10.007

Source records

crossref · retrieved 2026-09-26T12:55:11.718Z