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). PV carriers were younger at BC diagnosis (37 vs. 40 years, p=0.004) than non-carriers. CONCLUSION: A large proportion of TNBC in Mexican patients is associated with germline PVs, the vast majority in BRCA. The incremental yield of PVs in other BC-susceptibility genes was modest, and a stepwise approach starting with BRCA testing may be justified if it is more cost-effective than multigene panel testing.

The Newcastle satisfaction with nursing scales in a Mexican Oncology Hospital.

OBJECTIVES: The principal aim of this study was to identify whether the Newcastle Satisfaction with Nursing Scales (NSNS) could be used on cancer patients. METHODS: This was a descriptive, cross-sectional study carried out on cancer patients (n = 298). RESULTS: We found that a majority of cancer patients were around 50 years old (hospitalized patients [HP]: 49.5 ± 14.9; chemotherapy outpatients [COP]: 49.4 ± 12.7), were female (HP: 74%; COP: 63.5%), and had received education at least up to elementary level (HP: 70%; COP: 80%). Breast cancer was the principal type of cancer (>34%) in both groups (HP and COP). The groups were comparable in age, sex distribution, place of origin, educational qualification, and type of cancer. Among HP, the experience and satisfaction scales of the NSNS showed good internal consistency (n = 235, α >0.9, r > 0.7), while among COP, only the satisfaction scale showed good internal consistency (n = 62, α = 1.00). Most patients' perceptions (level of satisfaction) of hospitalization and chemotherapy services were positive (98% and 97%, respectively). CONCLUSION: An NSNS instrument specifically designed for ambulatory care cancer patients is necessary for it to be useful in assessing cancer patients' perception of nursing care. This will help improve the quality of care in Mexico.The presence of cancer by itself could modify the patients' satisfaction level. Further large-scale studies are required to investigate the patients' perceptions of nursing care using the NSNS on different cancer patient groups.

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

The prevalence and contribution of BRCA1/2 (BRCA) pathogenic variants (PVs) to the cancer burden in Latin America are not well understood. This study aims to address this disparity. BRCA analyses were performed on prospectively enrolled Latin American Clinical Cancer Genomics Community Research Network participants via a combination of methods: a Hispanic Mutation Panel (HISPANEL) on MassARRAY; semiconductor sequencing; and copy number variant (CNV) detection. BRCA PV probability was calculated using BRCAPRO. Among 1,627 participants (95.2% with cancer), we detected 236 (14.5%) BRCA PVs; 160 BRCA1 (31% CNVs); 76 BRCA2 PV frequency varied by country: 26% Brazil, 9% Colombia, 13% Peru, and 17% Mexico. Recurrent PVs (seen ≥3 times), some region-specific, represented 42.8% (101/236) of PVs. There was no ClinVar entry for 14% (17/125) of unique PVs, and 57% (111/196) of unique VUS. The area under the ROC curve for BRCAPRO was 0.76. In summary, we implemented a low-cost BRCA testing strategy and documented a significant burden of non-ClinVar reported BRCA PVs among Latin Americans. There are recurrent, population-specific PVs and CNVs, and we note that the BRCAPRO mutation probability model performs adequately. This study helps address the gap in our understanding of BRCA-associated cancer in Latin America.

Evaluation of psychosocial aspects in participants of cancer genetic counseling.

BACKGROUND: The instrument called "Hospital Anxiety and Depression Scale" (HADS) is frequently used to evaluate anxious and depressive symptomatology in patients who receive Cancer Genetic Counseling (CGC). However, this instrument cannot identify all of the psychosocial factors, such as the antecedents of the patients' emotional states or their concerns. The objective of the present research was to compare cases detected with psychosocial alterations by means of HADS and a Psychological Health Interview (PHI). METHODS: A transversal analytical design was used. One hundred ten participants were included (97.3% females and 2.7% males). The average age was 45 years ±10 years. RESULTS: The PHI identified twice the amount of participants with psychosocial alterations than did HADS, which only detected 43% of these participants. CONCLUSIONS: The results of our study suggest that the PHI should be applied in addition to HADS to identify participants who would require psychological support due to recurrent concerns.

[Amniotic band sequence and bilateral choanal atresia: a case report]. / Secuencia de bridas amnióticas y atresia bilateral de coanas: reporte de un caso.

Amniotic band sequence (ABS) is a group malformation that mainly affects limbs; clinically, constriction rings and lymphedema of the fingers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling. Less frequently, craniofacial and trunk involvement are reported in some patients. Etiology is still unknown and most cases are isolated. In this report we present the case of a 45-day-old male with diagnosis of SBA and bilateral choanal atresia as attached finding, and review possible causes of SBA and associated alterations.

Secuencia de bridas amnióticas y atresia bilateral de coanas: reporte de un caso / Amniotic band sequence and bilateral choanal atresia: a case report

La secuencia de bridas amnióticas (SBA) es un grupo de malformaciones de tipo disruptivo que afecta principalmente las extremidades; clínicamente, se observan anillos de constricción y linfedema en dedos, brazos y piernas; pseudosindactilias y acrosindactilias; además, existe amputación congénita de las extremidades por tumefacción distal; en algunos pacientes se han comunicado, con menor frecuencia, alteraciones craneofaciales y del tronco. La etiología es aún desconocida y la mayoría de los casos son aislados. En este informe presentamos el caso de un paciente masculino, de 45 días de nacido, con diagnóstico de SBA y atresia bilateral de coanas como hallazgo adjunto; se revisan las posibles causas del SBA y las alteraciones asociadas.

Amniotic band sequence (ABS) is a group malformation that mainly affects limbs; clinically, constriction rings and lymphedema of the fngers, arms and legs, acrosyndactyly and pseudosyndactyly are observed; also there is congenital amputation of limbs due to distal swelling. Less frequently, craniofacial and trunk involvement are reported in some patients. Etiology is still unknow and most cases are isolated. In this report we present the case of a 45-day-old male with diagnosis of SBA and bilateral choanal atresia as attached fnding, and review possible causes of SBA and associated alterations.