Principal Investigator. Sara Frias

BIOGRAPHICAL SKETCH

Provide the following information for the Senior/key personnel and other significant contributors.

Follow this format for each person. Two pages

NAME: Sara Frias

eRA COMMONS USER NAME (credential, e.g., agency login): Sara Frias-Vázquez

POSITION TITLE: PhD, PI, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México / Instituto Nacional de Pediatría

EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, include postdoctoral training and residency training if applicable. Add/delete rows as necessary.)

A. Personal Statement

My background is in human cytogenetics, and human genetics, Since I completed my BA in Biology, I have been involved in the study of patients with congenital malformation, the correlation genotype-phenotype. Specifically I have worked since 1980 with the rare and cancer-prone disease Fanconi anemia. I have established a cytogenetics lab dedicated to the research of patients with Fanconi anemia, studying a cohort of Fanconi anemia at the molecular, cellular and clinical levels. In this field, I am working with the Fanconi Cancer Foundation (FCF), to establish several foci of cytogenetic diagnosis of Fanconi anemia, in Latin America. In addition, I have been involved in the investigation regarding the genomic consequences of the anticancer treatment in patients with hematological cancer. I have graduated more than 50 students, most of them post-graduates.

B. Positions and Honors

1975- Investigator in Cytogenetics and Biology, Instituto Nacional de Pediatría

1980- Professor in Molecular biology of the cell, Facultad de ciencias, (Universidad Nacional Autónoma de México)

2010- Full time Researcher level “C”, Instituto de Investigaciones Biomédicas (Universidad Nacional Autónoma de México)

Other Experience and Professional Memberships

1976- Mexican Society of Human Genetics

1982- Mexican Society of Genetics

1986-2025 Mexican Board of Human Genetics

Honors

1989 Gabino Barreda Medal for the best student in the Doctorate in Biological Sciences

1984 Member of Sistema Nacional de Investigadores (SNII), México.

2024- Emeritus Researcher of the National System of Researchers of Mexico. (highest level of recognition)

C. Contribution to Science

Selected Peer-reviewed publications (in chronological order). (selected past 5 years, from >100)

Rodríguez A, Kaiyang Zhang, Anniina Farkkila, Jessica Filiatrault, Chunyu Yang, Martha Velázquez, Elissa Furutani, Devorah C. Goldman, Benilde García de Teresa, Gilda Garza-Mayen, Kelsey McQueen, Larissa A. Sambel, Bertha Molina, Leda Torres, Marisol González, Eduardo Vadillo, Rosana Pelayo, William H. Fleming, Markus Grompe, Akiko Shimamura, Sampsa Hautaniemi, Joel Greenberger, Sara Frías, Kalindi Parmar, and Alan D. D’Andrea. MYC Promotes Bone Marrow Stem Cell Dysfunction in Fanconi Anemia. Cell Stem Cell (2021) Sep 24:S1934-5909(20)30450-1 28-1-15

https://doi.org/10.1016/j.stem.2020.09.004 FI. 20.860

Rodriguez Alfredo, Chunyu Yang, Elissa Furutani, Benilde García de Teresa, Jessica Filiatrault, Larissa Sambel, Patricia Flores-Guzmán, Silvia Sánchez, Angélica Monsiváis, Héctor Mayani, Ozge Vargel Bolukbasi, Anniina Färkkilä, Michael Epperly, Joel Greenberger, Akiko Shimamura, Frias S, Markus Grompe, Kalindi Parmar, Alan D'Andrea. Inhibition of TGFbeta1 and TGFbeta3 promotes hematopoiesis in Fanconi anemia. Exp Hematol. 2021 Nov 6:S0301-472X(20)30620-2. doi: 10.1016/j.exphem.2020.11.002 Online ISSN: PMID: 33166613. FI 3.084.

Anniina Färkkilä, Alfredo Rodríguez, Jaana Oikkonen, Doga C Gulhan, Huy Nguyen, Julieta Domínguez, Sandra Ramo, Caitlin E Mills, Fernando Perez-Villatoro, Jean-Bernard Lazaro, Jia Zhou, Connor S Clairmont, Lisa A Moreau, Peter J Park, Peter K Sorger, Sampsa Hautaniemi, Sara Frias, Alan D D'Andrea. Heterogeneity and clonal evolution of acquired PARP inhibitor resistance in TP53- and BRCA1-deficient cells. Cancer Res. 2021 Jan 29;canres.2912.2020. doi: 10.1158/0008-5472.CAN-20-2912. ISSN 0099-7013

FI 9.727

Eunice Fabian-Morales, David Vallejo-Escamilla, …, Sara Frias, and Luis A. Herrera. Large-scale topological disruption of chromosome territories 9 and 22 is associated with nonresponse to treatment in CML. Int. J. Cancer. 2021;150:1455–1470. Online ISSN:1097-0215, DOI: 10.1002/ijc.33903. F.I. 7.396.

Reyes P, García-de-Teresa B, Juárez U, Pérez-Villatoro F, Fiesco-Roa M, Rodríguez A, Molina B, Villarreal-Molina MT, Meléndez-Zajgla J, Carnevale A, Torres L, Frias S. Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant. Int. J. Mol. Sci. 2022,23,2334. ISSN 1422-0067, https://doi.org/ 10.3390/ijms23042334. F.I. 6.208

Moisés Ó Fiesco-Roa, Benilde García de Teresa, Paula Leal-Anaya, Renée van ‘t Hek, Talia Wegman-Ostrosky, Sara Frías*, Alfredo Rodríguez*. Fanconi Anemia and Dyskeratosis Congenita/Telomere Biology Disorders: Two Inherited Bone Marrow Failure Syndromes with Genomic Instability. Frontiers in Oncology, Front. Oncol. Sec. Hematologic Malignancies

Front. Oncol. 12:949435. doi: 10.3389/fonc.2022.949435. ISSN. 2234943X. F.I. 6.244

Alfredo Rodríguez, Michael Epperly, Jessica Filiatrault, Martha Velázquez, Chunyu Yang, Kelsey McQueen, Larissa A. Sambel, Huy Nguyen, Divya Ramalingan Iyer, Ulises Juárez, Sara Frías, Renee Fisher, Kalindi Parmar, Joel Greenberger, Alan D. D’Andrea. TGFb pathway is required for viable gestation of Fanconi anemia embryos. PLOS Genetics, F.I. 5.36

Cecilia Ayala-Zambrano, Mariana Yuste, Sara Frías, Benilde García de Teresa, Luis Mendoza, Eugenio Azpeitia, Alfredo Rodríguez, Leda Torres. A Boolean network model of the double-strand break repair pathway choice. Journal of Theoretical Biology 573. 2023 111608. PMID:37595867 DOI: 10.1016/j.jtbi.2023.111608. ISSN 0022-5193 F.I. 2.405

Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García de Teresa, Angélica Monsiváis, Rocío Juárez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Anet Rivera-Osorio, David Sosa, Norma López, Sara Frías, Victoria del Castillo, Alfredo Rodríguez. Inherited Bone Marrow Failure Syndromes: Phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico, Frontiers in Genetics, 2024, DOI: 10.3389/fgene.2023.1293929. ISSN 1664-8021. F.I. 4.772.

Benilde Garcia-de Teresa, Ayala-Zambrano C, Gonzalez-Suárez M, Molina B, Torres L, Rodríguez A, Frias S ((autor de correspondencia). Reversion from basal histone H4 hypoacetylation at the replication fork increases DNA damage in FANCA deficient cells. PLoS ONE 19(5): e0298032. 2024. https://doi.org/10.1371/journal.pone.0298032ISSN. 1932-6203. F.I. 3.7

Dominguez-Ortiz, J.; Álvarez-Gómez, R.M.; … Sara Frías; Cristian Arriaga-Canon; Luis A. Herrera-Montalvo. A Molecular Characterization of the Allelic Expression of the BRCA1 Founder ∆9–12 Pathogenic Variant and Its Potential Clinical Relevance in Hereditary Cancer. Int. J. Mol. Sci. 2024, 25,6773. https://doi.org/ 10.3390/ijms25126773. ISSN 1422-0067 ; F.I. 6.208

Sánchez, S.; García-de‐Teresa, B.; Mejía‐Barrera, M.A.; Reyes‐Jiménez, P.V.; Paz‐Martínez, A.; Martínez, M.A.; Fiesco‐Roa, M.Ó.; Monsiváis‐Orozco, A.; Molina, B.; Torres, L.; Alfredo Rodríguez y Frias S (autor de correspondencia). High Burden of Non‐Clonal Chromosome Aberrations Before Onset of Detectable Neoplasia in Fanconi Anemia Bone Marrow. Cancers 2025, 17, 1805.

https://doi.org/10.3390/cancers17111805

ISSN 2072-6694; F.I. 4.5

99. Ramos, S.; Molina, B.; Navarrete-Meneses, M.d.P.; Cervantes-Barragan, D.E.; Lozano, V.; Frias, S. Unclassified Chromosomal Abnormalities as an Indicator of Genomic Damage in Survivors of Hodgkin’s Lymphoma. Cancers 2025, 17,2437. https://doi.org/10.3390/ cancers17152437

ISSN 2072-6694; F.I. 4.5

Johnatty SE, Tudini E, Parsons MT, Michailidou K, Zanti M […] Fiesco-Roa MO, Frias S.García-de-Teresa B, […] Spurdle AB.

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.

Am J Hum Genet. 2025: S0002-9297(25)00398-2. doi: 10.1016/j.ajhg.2025.10.007. F.I. 8.1

Luis A. Flores-Mejía, Pablo Siliceo, Ulises Juárez Figueroa, Angel A. De la Cruz, Cecilia Ayala-Zambrano, Hugo Tovar, Sara Frías, Alfredo Rodríguez. Prediction of myeloid malignant cells in Fanconi anemia using machine learning PLoS One 21(1): e0340578. https://doi. org/10.1371/journal.pone.0340578 ISSN 1932-6203. F.I. 2.4.

Mejía-Barrera MA, Martínez-Torres EE, Juárez-Figueroa U, Torres L, Fiesco-Roa MO, García-de-Teresa B, Gomez-Verjan JC, Meléndez-Zajgla J, Rodríguez A, Sánchez S, Molina B and Frias S (2026) The tight bond between Fanconi anemia and aging. Front. Aging 7:1752160. doi: 10.3389/fragi.2026.1752160. ISSN 2673-6217 (Online) F.I. 4.3

Benilde García-de-Teresa, Tianna Zhao, Consuelo Salas-Labadía, Moisés Fiesco-Roa, Weiyin Zhou, Silvia Sánchez, Ulises Juárez-Figueroa, Bertha Molina, Leda Torres, Raymond Caylor, Difei Wang, Chad A. Highfill, Maryam Rafati, Jia Liu, Logan P. Zeigler, Angélica Monsivais, Esther Lieberman, María de la Luz Orozco-Covarrubias, Mauricio Rojas, Burak Altintas, Neelam Giri, Kristine M. Jones, Komal Jain, Lisa J. McReynolds, Belynda Hicks, Sara Frías & Sharon A. Savage. Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation. npj Genom. Med. (2026). https://doi.org/ 10.1038/s41525-026-00587-8

D. Financial support for research: 20 research projects funded. 18 projects funded by government institutions and two by private institutions.

14 projects funded for Fanconi anemia research.