G. Pacheco-Cuellar

Instituto de Salud del Estado de México

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Saúl Campos-Gómez

Instituto de Salud del Estado de México

K. Campos-Gomez

Instituto de Salud del Estado de México

J.J. Valdéz-Andrade

Instituto de Salud del Estado de México

J.J. Valdés-Andrade

Instituto de Salud del Estado de México

Philippe M. Campeau

Centre Hospitalier Universitaire Sainte-Justine

J. Esquivel-Gutierrez

Norbert Fonya Ajeawung

McGill University

Luz María González-Huerta

Hospital General de México

Sirinart Molidperee

Centre Hospitalier Universitaire Sainte-Justine

Eleonora Dronca

Iuliu Hațieganu University of Medicine and Pharmacy

Cooperative Institutions

Centre Hospitalier Universitaire Sainte-Justine

Université de Montréal

Universidad Nacional Autónoma de México

Radboud University Nijmegen

Radboud University Medical Center

Institute of Oncology Prof. Dr. Ion Chiricuta

Cardiff University

Instituto de Salud del Estado de México

Hospital General de México

County Hospital

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P62.11 Germline Genetic Testing in Patients with Lung Cancer in a Mexican Center

Journal of Thoracic Oncology (2021)

G. Pacheco-Cuellar J.J. Valdéz-Andrade H. Rodriguez-Montoya Saul Campos‐Gómez

Center (category theory)

10.1016/j.jtho.2021.08.656

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Abstract P5-09-14: Prevalence and type of BRCA mutations in young breast cancer patients undergoing genetic cancer risk assessment in two developing countries: Analysis of two cohorts from Romania and Mexico

Cancer Research (2019)

Saul Campos‐Gómez Nicoleta Antone G. Pacheco-Cuellar Laura Pop K Campos Gómez

Abstract Background: a previous study found significant clinicopathological differences between young Breast Cancer BrCA patients (pts) from Romania (Ro) and from Mexico (Mx). Here, we provide a molecular and clinical description of pts carrying BRCA mutations of both cohorts. Methods: in this retrospective study, we analyzed 2 cohorts of BRCA1/2 mutations carriers tested in COEI from Mx between 2014-2017 and IOCN from Ro between 2015 to 2016. Ro pts were selected according to NCCN criteria, while Mx pts were selected based on risk evaluation models. NGS analysis and MLPA for BRCA1&2 were performed in all pts. We compared demographic, clinicopathological and molecular data. Results: 65 pts, 21 (32.7%) from Mx and 44(67.7%) from Ro carried a BRCA mutation. 66.7% of Mx pts and 65.9% of Ro pts carried a BRCA1 mutation. We found clinical similarities: Mean age was 44.5y for Mx and 40.59y for Ro pts. IDC was the most frequent type of BrCa in both series (90.5 vs 90.9%). TNBC was seen in 13 Mx vs 27 Ro pts (61.9% vs 61.4%), HR positive was seen in 7 (33.3%) and 12 (27.3%) cases. Grading 3 was more frequently seen in Ro, while grading 2 was mainly noted in MX pts(p=<0.020). BRCA1/2 pathogenic mutations were different between the 2 cohorts and no BRCA 1/2 identical mutation was identified. 15 different mutations in 21 Mx pts, and 16 different mutations in 44 Ro pts were found. Mutations were different between 2 cohorts. Notably for the Ro cohort, 4 founder mutations (c.181T>G, c.3607C>T, c.5266dupC in BRCA1,and c.9928A>G[GPC1] in BRCA2) were found in 31/44 pts, while the Mx cohort, c.5123C>A and del 9-12del ex in BRCA1 were found in 6/21 mutations. Three Large rearrangements (LR) were exclusively seen in the Mx pts (5/21). Conclusions Both cohorts didn't share any mutation, but the clinical features are similar. BRCA1 del 9-12del is a Mexican founder mutation, we found it in 14% of Mx pts, LR have been described more frequently in Latin American Populations, we found it in 30% of the MX cohort, while for Ro cohort four recurrent mutations qualify as founder mutations. Citation Format: Campos-Gomez S, Antone N, Pacheco-Cuéllar G, Pop L, Campos Gomez K, Stoian A, Eniu R, Valdes-Andrade J, Dronca E, Matei R, Ligtenberg M, Ouchene H, Onisim A, Rotaru O, Eniu AE. Prevalence and type of BRCA mutations in young breast cancer patients undergoing genetic cancer risk assessment in two developing countries: Analysis of two cohorts from Romania and Mexico [abstract]. In: Proceedings of the 2018 San Antonio Breast Cancer Symposium; 2018 Dec 4-8; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2019;79(4 Suppl):Abstract nr P5-09-14.

BRCA Mutation

10.1158/1538-7445.sabcs18-p5-09-14

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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

Journal of Bone and Mineral Research (2017)

G. Pacheco-Cuellar Julie Gauthier Valérie Désilets Christian Lachance Marlène Lemire-Girard

ABSTRACT Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein that converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia. Severe respiratory compromise secondary to lung hypoplasia and pulmonary hypertension, and intestinal obstruction led to their demise. We thus report the most severe phenotype described so far associated with PGM3 mutations. This CDG should be considered in the presence of skeletal dysplasia associated with severe immunodeficiency. © 2017 American Society for Bone and Mineral Research.

Bone marrow failure

10.1002/jbmr.3173

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Citations (28)

P09.11 Nutritional Risk Status Predicts Overall Survival of Mexican Patients with Advanced Non-Small-Cell Lung Cancer (NSCLC)

Journal of Thoracic Oncology (2021)

Saul Campos‐Gómez J.J. Valdéz-Andrade J. Esquivel-Gutierrez Emigdio Jaimes-Alpízar G. Pacheco-Cuellar

Performance status

10.1016/j.jtho.2021.01.439

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Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families

Journal of Neurology (2011)

G. Pacheco-Cuellar Luz María González-Huerta Juan Manuel Valdés‐Miranda Hugo Peláez‐González S. Zenteno-Bacheron

Neuroradiology

Sensory neuropathy

Autonomic neuropathy

10.1007/s00415-011-6025-x

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Citations (14)

Primary Benign Tumors of the Spinal Canal

World Neurosurgery (2022)

José Alberto Carlos-Escalante Ángel-Antonio Paz-López Bernardo Cacho‐Díaz G. Pacheco-Cuellar Gervith Reyes-Soto

Spinal Neoplasms

10.1016/j.wneu.2022.04.135

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Citations (18)

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Genetics in Medicine (2020)

Éliane Beauregard‐Lacroix G. Pacheco-Cuellar Norbert Fonya Ajeawung Jessica Tardif Klaus Dieterich

Doors

10.1038/s41436-020-00950-9

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Citations (24)

P36 Diagnostic Accuracy and Complication Rate of CT-Guided Core Biopsies of Lung Lesions in a Thoracic Oncology Unit in Mexico

Journal of Thoracic Oncology (2018)

Saul Campos‐Gómez M.A. Morales-Ruíz J.J. Valdés-Andrade J. Esquivel-Gutiérrez David Eduardo Aguirre-Quezada

Thorax (insect anatomy)

Chest tube

10.1016/j.jtho.2018.07.075

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Abstract P6-08-27: Disparities in cascade screening in BRCA1 or BRCA2 mutation carriers. Exploring rate and barriers in a Mexican population

Cancer Research (2020)

G. Pacheco-Cuellar Karen A. Campos-Gómez J.J. Valdés-Andrade Saul Campos‐Gómez

Abstract Background. Hereditary predisposition explains 10-15% of Breast cancer (BC), individuals carrying germline BRCA1 andBRCA2 mutations have a 46-87% lifetime risk for BC. According to ACOG, Genetic Cascade Testing (GCT) refers to the performance of genetic counseling (GC) and testing in blood relatives of individuals who have been identified with specific genetic mutations. CGT could offer advantages to relatives in order to adjust surveillance and even offer risk reduction procedures. Even if CGT should be more affordable, its cost is still a burden for most Mexican health care institutions and patients (pts) as well. Herein, we intended to explore the CGT rate, and describe the barriers to CGT in Mexican pts with BC. Methods. Through this retrospective work, we collected clinical, demographic and familial information of BRCA1&2 mutation carriers diagnosed from nov2014-mars2019. Through GC or medical record review, we explored if some of the relatives older than 18 years had GT, and if CGT was complete for their 1st and 2nd degree relatives. Finally, pts available for an interview were asked to list CGT barriers. Also, we asked them whether a GC session was offered to their relatives. Descriptive and parametric tests were used. Results. We identified 27 pts carriers of a pathogenic variant in BRCA1 or BRCA2. 16 pts (59%) were carriers of BRCA1 mutations. Mean age was 44.52y (SD 10.3). (48.1%) 13 pts held bachelor or a higher degree. 6 pts (22.22%) reported some CGT. 2 pts (7.4%) described GT in offspring, and 1 pt (3.4%) in siblings. 2 pts described GT in 2nd or 3rd degree relatives. Nonetheless, only 1 pt (3.7%) had complete GT for 1st degree relatives. 5 pts were not available for interview, 2 deceased before we started collecting these data, and 2 pts were had their result too recently. Thus, we conducted 18 interviews. All patients had a positive attitude toward GT. The barriers described were: in 16 cases (88.8%) lack of coverage; in 12 (66.66%), the cost of GT; in 5 cases (27.7%), the relatives were beneficiaries of other health care institution, or declined the test because they were males and perceived a low risk. In 4 cases (22.22%), the relatives had not access to a genetics department, or indolence was referred too. In 3 cases (16.6%) family issues were reported. In 2 cases (11.11%), the relatives were comfortable having only clinical surveillance or their primary physician counseled it. A GC session in relatives was only performed in 9 families (33.3%). We found no association between CGT and age of diagnosis (p=0.372), education (p=0.301) or year of prescription of GT (p=0.477). Conclusion. Overall, we found a low cascade testing rate among our BRCA positive pts, and only one case was described as complete. Lack of coverage and cost of GT are described as the most important barriers. Only 1 pt disclosed the price of GT ($1000 for every single relative tested), which is not affordable for most of the population. Male gender was associated with lower testing rate, CG is necessary to improve understanding of risks according to gender and inheritance. Better communication between the different health care institutions could be helpful in order to identify relatives at risk. Unfortunately, we didn’t gather information about income, which could have an association with CGT. New modalities of GT are becoming more affordable and probably, more pts should be counseled about these options. Our sample is small, but it could be representative of a large issue along the whole country. Citation Format: Guillermo Pacheco-Cuellar, Karen Campos-Gomez, Juan Jesus Valdes-Andrade, Saul Campos-Gomez. Disparities in cascade screening in BRCA1 or BRCA2 mutation carriers. Exploring rate and barriers in a Mexican population [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P6-08-27.

10.1158/1538-7445.sabcs19-p6-08-27

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Are young breast cancer patients' clinico-pathological characteristic different when comparing populations from developing countries? Analysis of two cohorts of patients from Romania and Mexico.

Journal of Clinical Oncology (2018)

Saul Campos‐Gómez Nicoleta Antone Laura Pop Karen Angelica Campos Gomez Andrei Stoian

e13572 Background: Breast cancer (BC) is the most common malignancy in women with 6.6% of cases diagnosed in young women below the age of 40. Although there are significant similarities in demographic and clinico-pathological characteristic between geographical areas, the striking difference is in peak age for young populations. Objetive:Comparison of two young breast cancer(YBC) patients (pts) cohorts candidates for BRCA gene testing of two Developing Countries Methods: In this retrospective study, we analyzed 2 cohorts of 70 YBC pts candidates for BRCA gene testing treated at COEI in Mexico between 2013 to 2015 and IOCN from Romania between 2015 to 2016.Patient demographic and clinico-pathological information was recorded, and included: age at diagnosis, laterality presentation, clinical stage, Scarff-Bloom-Ricardson (SBR) grading, hormone receptor (HR), HER2neu and Ki 67% status Results: The analysis of these cohorts revealed clinical stage to be statistically significant different,(p = 0.0084), the Romanian population presented more advanced loco-regional disease. Invasive ductal carcinoma was the most prevalent histopatological subtype in both groups with no statistical significance (p = 0.5239). Grade 3 was more frequent in the Romanian population, while the Mexican subgroup presented mainly grade 2( p = 0.0011), statistically significant. Regarding HR status, the Caucasian population was mainly positive, while the Hispanic cohort presented more frequent negative, statistically significant (p = 0.0040). Majority of Romanian and Mexican population were Her2 neu status negative, (p = 0.2749). The Romanian population presented more aggressive feature, ki67 > 15%, when compared with Mexican cohort (p = < 0.0001).(Table 1) Conclusions: YBC pts represent an important BC subpopulation worthy to perform systematic analysis regarding demographic and clinico-pathological characteristics, especially in populations from developing countries. Our results indicate that parameters like stage, grading, HR status and ki67% are statistical significant when comparing Romanian and Mexican YBC groups

10.1200/jco.2018.36.15_suppl.e13572

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