Addressing the need for genetic cancer risk assessment in Mexico: From establishment of a formal program to delivery innovation and expansion.

Purpose: The purpose of this manuscript is to show the process of the establishment and adaptation of an oncogenetics program in Mexico.

Methods: The oncogentics program at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán was established as a traditional in-person service and adapted to include telemedicine counseling to expand services to other hospitals and persists as a mixed counseling model with research/commercial genetic testing.

Results: A total of 2222 participants were included with a median age of 47 years and 77.

Uptake of Risk-Reducing Surgeries in an International Real-World Cohort of Hispanic Women.

Purpose: Women with pathogenic variants (PVs) in breast cancer (BC) and ovarian cancer (OC) associated genes are candidates for cancer risk-reducing strategies. Limited information is available regarding risk-reducing surgeries (RRS) among Hispanics. The aim of this study was to describe the uptake of RRS in an international real-world experience of Hispanic women referred for genetic cancer risk assessment (GCRA) and to identify factors affecting uptake.

Clinical characteristics of male patients with breast cancer in the Latino population.

Purpose: Breast cancer is the most prevalent cancer type in Mexico, with male breast cancer accounting for only 1% of all breast cancer cases. A limited number of studies have described the clinical-pathological profiles of males with breast cancer in low- and middle-income countries. This study presents an analysis of patients with breast cancer seen at three different institutions in México.

Prevalence and spectrum of germline pathogenic variants in cancer susceptibility genes among mexican patients with exocrine pancreatic cancer.

Background: Although universal germline genetic testing is recommended for patients with exocrine pancreatic cancer (PC), access to genetic testing remains limited in low- and middle-income countries. This study aims to narrow the gap in our understanding of the spectrum of germline pathogenic and likely pathogenic variants (PVs) in cancer susceptibility genes in the Mexican population.

Methods: The landscape of PVs in cancer susceptibility genes was identified by next-generation sequencing multigene panel assays among patients with PC who were enrolled in the Clinical Cancer Genomics Community Research Network prospective registry in Mexico City.

Obtention of viable cell suspensions from breast cancer tumor biopsies for 3D chromatin conformation and single-cell transcriptome analysis.

Molecular and cellular characterization of tumors is essential due to the complex and heterogeneous nature of cancer. In recent decades, many bioinformatic tools and experimental techniques have been developed to achieve personalized characterization of tumors. However, sample handling continues to be a major challenge as limitations such as prior treatments before sample acquisition, the amount of tissue obtained, transportation, or the inability to process fresh samples pose a hurdle for experimental strategies that require viable cell suspensions.

Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.

Lynch syndrome (LS) is the most frequent cancer predisposition syndrome affecting the colon and rectum. A pathogenic variant (PV) disrupting one of the mismatch repair (MMR) genes is responsible for the disease. The spectrum of tumors in LS is heterogeneous and includes cancer of the colon and rectum (CRC), endometrium, ovaries, stomach, small bowel, urinary tract, bladder, pancreas, and skin.

Addressing the Historic Challenges of and Variant Curation and the Need for More Diverse Representation.

Advancements in variant curation challenges: minority representation and incomplete data reporting.

Multicenter Study on the Frequency of Low Bone Mineral Density in Young Women With Breast Cancer and Associated Factors.

Introduction: Young women with breast cancer (BC) may experience bone mineral density (BMD) loss secondary to cancer treatment effects on estrogen levels. Studies assessing BMD in BC patients have had a limited representation of young women. This multicenter retrospective study analyzed the frequency of low BMD and associated factors in this age group.

Supportive care needs among older Mexican adults with metastatic cancer.

Introduction: Supportive care needs may vary according to age. The purpose of this research is to describe and compare supportive care needs between older adults with metastatic cancer (age ≥ 65 years) and their younger counterparts.

Materials And Methods: We conducted a retrospective secondary analysis of a cohort of patients with newly diagnosed metastatic solid tumors.

Uptake of Risk-Reducing Measures, Cascade Testing, and Related Challenges Among Carriers of Breast Cancer-Associated Germline Pathogenic Variants in Mexico.

Purpose: Genetic cancer risk assessment (GCRA) provides pathogenic variant (PV) carriers with the invaluable opportunity to undertake timely cancer risk-reducing (RR) measures and initiate cascade testing (CT). This study describes the uptake of these strategies and the related barriers among breast cancer-associated germline PV carriers in Mexico.

Methods: Carriers who were at least 6 months after disclosure of genetic test results at two GCRA referral centers were invited to answer a survey assessing sociodemographic characteristics, awareness of their carrier status and its implications, uptake of RR measures according to international guidelines by PV, CT initiation, and associated challenges.

Real-world data in patients with mutated breast cancer treated with poly (ADP-ribose) polymerase inhibitors.

Breast cancer is the most common type of cancer globally. Hereditary breast cancer accounts for 10% of new cases and 4%-5% of cases are associated to pathogenic variants in or genes. In recent years, poly-adenosine-diphosphate-ribose polymerase inhibitors (PARPi) olaparib and talazoparib have been approved for patients with -associated, HER2 -negative breast cancer.

Systemic Treatment of Patients With Metastatic Breast Cancer: ASCO Resource-Stratified Guideline.

Purpose: To guide clinicians and policymakers in three global resource-constrained settings on treating patients with metastatic breast cancer (MBC) when Maximal setting-guideline recommended treatment is unavailable.

Methods: A multidisciplinary, multinational panel reviewed existing ASCO guidelines and conducted modified ADAPTE and formal consensus processes.

Results: Four published resource-agnostic guidelines were adapted for resource-constrained settings; informing two rounds of formal consensus; recommendations received ≥75% agreement.

Locoregional therapy containing surgery in metastatic breast cancer: Systematic review and meta-analysis.

Introduction: The role of locoregional therapy (LRT) containing surgery and systematic therapy in metastatic breast cancer patients remains controversial. This study investigated the effect of LRT in patients who were initially diagnosed with metastatic breast cancer (MBC) on overall survival (OS), locoregional progression-free survival (PFS), and distant systemic PFS.

Methods: The related keywords were searched in MEDLINE/PubMed, SCOPUS, and Web of Science databases up to August 15th, 2022.

Germline DNA Repair Genes Pathogenic Variants Among Mexican Patients With Prostate Cancer.

Background: Early identification of germline mutation carriers may be relevant for the optimal management of prostate cancer and to inform cancer risk in relatives. However, population minorities have limited access to genetic testing. The aim of this study was to describe the frequency of DNA repair gene pathogenic variants (PVs) among Mexican men with prostate cancer referred for Genomic Cancer Risk Assessment and testing.

Tamoxifen use and risk of endometrial cancer in breast cancer patients: A systematic review and dose-response meta-analysis.

Background: Worse prognosis of endometrial cancers (EC) in tamoxifen-treated women compared to non-tamoxifen-treated women been proposed. The relationship between tamoxifen treatment of breast cancer (BC) and the risk of EC is controversial and there is no agreement between publication results on this issue (the answer to all comments provided in the page 2 of manuscript). The aim of this study is investigation the association between tamoxifen treatment and the risk of EC in patients with BC.

End-of-Life Care and Advanced Directives in Hispanic/Latinx Patients: Challenges and Solutions for the Practicing Oncologist.

Advanced end-of-life care (EOL) comprises a group of strategies to provide comfort to patients at the end of life. These are associated with better quality of life, better satisfaction, and a lower rate of hospitalizations and aggressive medical treatment. Advanced EOL care, including advanced directives completion and hospice enrollment, is suboptimal among Hispanic/Latinx patients with cancer due to personal, socio-cultural, financial, and health system-related barriers, as well as due to a lack of studies specifically designed for this population.

Implementation of geriatric haematology programmes for the treatment of older people with haematological malignancies in low-resource settings.

In 2020, about 600 000 people aged 65 years and older were diagnosed with a haematological malignancy worldwide, and this number will increase to almost 1 million by 2040, with the largest growth taking place in regions with less developed economies. Health-care systems globally are ill-prepared to face this impending increase in the burden of haematological malignancies among older people, and geriatric oncology and haematology are not properly developed in most low-income and middle-income countries, as well as in many community settings in high-income countries. Here, we provide an overview of the status of geriatric haematology in resource-limited settings, with a focus on health-care systems, educational activities, availability of resource-stratified guidelines, development of clinical programmes, and ongoing research initiatives.

Influence of germline genotype on the survival of patients with triple-negative breast cancer.

The presence of pathogenic variants (PVs) in triple-negative breast cancer (TNBC) is associated with a distinctive genomic profile that makes the tumor particularly susceptible to DNA-damaging treatments. However, patients with PVs can develop treatment resistance through the appearance of reversion mutations and restored expression. As copy-number variants (CNV) could be less susceptible to reversion mutations than point mutations, we hypothesize that carriers of CNVs may have improved survival after treatment compared to carriers of other PVs or wild-type.

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.

Purpose: To report on pathogenic germline variants detected among individuals undergoing genetic testing for hereditary breast and/or ovarian cancer (HBOC) from Latin America and compare them with self-reported Hispanic individuals from the United States.

Methods: In this cross-sectional study, unrelated individuals with a personal/family history suggestive of HBOC who received clinician-ordered germline multigene sequencing were grouped according to the location of the ordering physician: group A, Mexico, Central America, and the Caribbean; group B, South America; and group C, United States with individuals who self-reported Hispanic ethnicity. Relatives who underwent cascade testing were analyzed separately.

MASCC/ISOO expert opinion on the management of oral problems in patients with advanced cancer.

Purpose: The Palliative Care Study Group in conjunction with the Oral Care Study Group of the Multinational Association for Supportive Care in Cancer (MASCC) formed a sub-group to develop evidence-based guidance on the management of common oral problems in patients with advanced cancer.

Methods: This guidance was developed in accordance with the MASCC Guidelines Policy. A search strategy for Medline was developed, and the Cochrane Database of Systematic Reviews and the Cochrane Central Register of Controlled Trials were explored for relevant reviews and trials, respectively.

Germline pathogenic variants in Mexican patients with hereditary triple-negative breast cancer.

Objective: Describe the prevalence of breast cancer (BC)- associated germline pathogenic variants (PVs) among Mexican patients with triple-negative BC (TNBC).

Materials And Methods: The spectrum of PVs identified among patients with TNBC who were enrolled in a prospective registry and underwent genetic testing was analyzed.

Results: Of 387 patients with invasive TNBC and a median age at diagnosis of 39 years (range 21-72), 113 (29%) were carriers of PVs in BC-susceptibility genes: BRCA1 (79%), BRCA2 (15%), and other (6%: ATM, BRIP1, PALB2, PTEN, RAD51C, and TP53).

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