Cristina Fortuno

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 16

Top Topics

Machine Learning

Early Breast Cancer

Top Venues

JCO precision oncology

Journal of medical genetics

Journal of the National Cancer Institute

Human molecular genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Cristina Fortuno, Amanda B Spurdle, Paul A James
Reply to S. Li et al. JCO precision oncology 8 (2024)
Cristina Fortuno, Kyriaki Michailidou, Michael Parsons, Jill S Dolinsky, Tina Pesaran, Amal Yussuf, Jessica L Mester, Kathleen S Hruska, Susan Hiraki, Robert O'Connor, Raymond C Chan, Serra Kim, Sean V Tavtigian, David Goldgar, Paul A James, Amanda B Spurdle
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human molecular genetics 33 (8) (2024)
Cristina Fortuno, Kyriaki Michailidou, Michael Parsons, Jill S Dolinsky, Tina Pesaran, Amal Yussuf, Jessica L Mester, Kathleen S Hruska, Susan Hiraki, Robert O'Connor, Raymond C Chan, Serra Kim, Sean V Tavtigian, David Goldgar, Paul A James, Amanda B Spurdle
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human molecular genetics 33 (8) (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Renata Lazari Sandoval, Michele Bottosso, Li Tianyu, Natalia Polidorio, Brittany L Bychkovsky, Benjamin Verret, Alessandra Gennari, Sophie Cahill, Maria Isabel Achatz, Olivier Caron, Marion Imbert-Bouteille, Catherine Noguès, Kara N Mawell, Cristina Fortuno, Amanda B Spurdle, Nabihah Tayob, Fabrice Andre, Judy E Garber
TP53-associated early breast cancer: new observations from a large cohort. Journal of the National Cancer Institute 116 (8) (2024)
Renata Lazari Sandoval, Michele Bottosso, Li Tianyu, Natalia Polidorio, Brittany L Bychkovsky, Benjamin Verret, Alessandra Gennari, Sophie Cahill, Maria Isabel Achatz, Olivier Caron, Marion Imbert-Bouteille, Catherine Noguès, Kara N Mawell, Cristina Fortuno, Amanda B Spurdle, Nabihah Tayob, Fabrice Andre, Judy E Garber
TP53-associated early breast cancer: new observations from a large cohort. Journal of the National Cancer Institute 116 (8) (2024)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics 61 (5) (2024)
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Wendy K Kohlmann, Conxi Lazaro Garcia, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L Ballinger, David M Thomas, Ainsley Campbell, Michael J Field, Marion Harris, Judy Kirk, Nicholas Pachter, Nicola K Poplawski, Rachel Susman, Katherine Tucker, Mathew J Wallis, Rachel Williams, Elisa Cops, David E Goldgar, null null, Paul A James, Amanda B Spurdle
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum. JCO precision oncology 8 (2024)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics 61 (5) (2024)
Cristina Fortuno, Amanda B Spurdle, Paul A James
Reply to S. Li et al. JCO precision oncology 8 (2024)
Renata Lazari Sandoval, Michele Bottosso, Li Tianyu, Natalia Polidorio, Brittany L Bychkovsky, Benjamin Verret, Alessandra Gennari, Sophie Cahill, Maria Isabel Achatz, Olivier Caron, Marion Imbert-Bouteille, Catherine Noguès, Kara N Mawell, Cristina Fortuno, Amanda B Spurdle, Nabihah Tayob, Fabrice Andre, Judy E Garber
TP53-associated early breast cancer: new observations from a large cohort. Journal of the National Cancer Institute 116 (8) (2024)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics 61 (5) (2024)
Cristina Fortuno, Kyriaki Michailidou, Michael Parsons, Jill S Dolinsky, Tina Pesaran, Amal Yussuf, Jessica L Mester, Kathleen S Hruska, Susan Hiraki, Robert O'Connor, Raymond C Chan, Serra Kim, Sean V Tavtigian, David Goldgar, Paul A James, Amanda B Spurdle
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human molecular genetics (2024)
Cristina Fortuno, Marcy Richardson, Tina Pesaran, Amal Yussuf, Carolyn Horton, Paul A James, Amanda B Spurdle
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources. Journal of medical genetics (2023)
Giovanni Innella, Simona Ferrari, Sara Miccoli, Elena Luppi, Cristina Fortuno, Michael T Parsons, Amanda B Spurdle, Daniela Turchetti
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 . Journal of medical genetics (2023)