scholarly journals Germline Mutations in Latin American Women With Breast Cancer

2020 ◽  
Vol 6 (Supplement_1) ◽  
pp. 29-29
Author(s):  
Megan Ren ◽  
Anali Orozco ◽  
Liliana Gómez Flores-Ramos ◽  
Anaseidy Albanez ◽  
Lisa Garland ◽  
...  

PURPOSE Breast cancer is the most common form of cancer among women in Latin America. Limited health care access, late-stage diagnosis, and lack of knowledge on the mutation profile of cancer susceptibility genes in low- and middle-income country populations lead to higher mortality rates. To address this health disparity, this study analyzes the breast cancer mutation profile of women from Mexico and Guatemala. Results from this study can be used to improve breast cancer screenings in these countries and for Latin American women living in the United States. METHODS Genomic and clinical data of women with breast tumors were obtained at the Instituto Nacional de Salud Publica in Mexico and Instituto Nacional de Cancerologia in Guatemala. Mutations in known breast cancer susceptibility genes were identified using targeted sequencing and were validated by manual review in the Integrative Genomics Viewer and pathogenicity determined using online databases (ClinVar and Varsome). Finally, variants were compared with corresponding clinical data for population-wide trends. RESULTS The Mexico study identified 14% of cases with pathogenic mutations in a sample of 201 patients and the Guatemala study contained 11% pathogenic mutations in 673 patients. The most frequently mutated genes for both populations were BRCA1, BRCA2, PALB2, and TP53, with BRCA1/2 mutations accounting for 7% to 10% of all variants. Patients with pathogenic mutations were found to have a significantly younger age of onset than patients without mutations, and a family history of breast cancer was pronounced in patients with pathogenic mutations. CONCLUSION The results of this study increase our understanding of the molecular and pathologic characteristics of breast cancer in Latin American women. This list of pathogenic variants and their clinical characteristics should be used to inform cancer screening, diagnosis, and treatment in the United States and abroad.

2002 ◽  
Vol 21 (1) ◽  
pp. 41-49 ◽  
Author(s):  
Jenny K. Yi ◽  
Cielito C. Reyes-Gibby

Cancer is the leading cause of death among Asian-American women in the United States and breast cancer is the most commonly diagnosed cancer among Asian-American women. Early detection through breast cancer screening has been found to improve the rate of survival for breast cancer. This study examined factors associated with breast cancer screening among 345 Vietnamese women ≥40 years old residing in a low-income Houston area. Data were collected through a self-administered questionnaire assessing socio-demographic characteristics, access to care factors, acculturation, and perceived susceptibility and severity of risks. Results showed 38 percent, 49 percent, and 33 percent of the respondents reporting having had a breast self-exam, a clinical breast exam, and a mammogram, respectively. Predictors of breast cancer screening include education, employment, ability to speak English, having lived in the United States for more than five years, and having a regular place of care. Implications of this study include the need for a culturally-relevant educational program for this understudied population.


2017 ◽  
Vol 12 (3) ◽  
pp. 293-314 ◽  
Author(s):  
Katie Dingeman ◽  
Yekaterina Arzhayev ◽  
Cristy Ayala ◽  
Erika Bermudez ◽  
Lauren Padama ◽  
...  

The United States deported 24,870 women in 2013, mostly to Latin America. We examine life history interviews with Mexican and Central American women who were apprehended, detained, and experienced different outcomes. We find that norms of the “crimmigration era” override humanitarian concerns, such that the state treats migrants as criminals first and as persons with claims for relief second. Removal and relief decisions appear less dependent on eligibility than geography, access to legal aid, and public support. Women’s experiences parallel men’s but are often worsened by their gendered statuses. Far from passively accepting the violence of crimmigration, women resist through discourse and activism.


1987 ◽  
Vol 11 (4) ◽  
pp. 489-503 ◽  
Author(s):  
Oliva M. Espin

This paper examines the psychological implications of the migratory process on Latin American women in the United States, addressing issues of gender roles, acculturation, language, loss, and grief that are frequently presented by immigrant Latinas in psychotherapy. The paper interprets these issues as reflective of the stresses created by the migratory process rather than as issues of individual psychopathology, and suggests ways to respond to them through psychotherapy.


2021 ◽  
Author(s):  
Rodrigo Santa Cruz Guindalini ◽  
Danilo Vilela Viana ◽  
João Paulo Fumio Whitaker Kitajima ◽  
Vinícius Marques Rocha ◽  
Rossana Verónica Mendoza López ◽  
...  

Abstract Genetic diversity of germline variants in breast cancer (BC) predisposition genes, is unexplored in miscegenated people, such as Latin American populations. We evaluated 1,662 Brazilian BC patients, who underwent hereditary multi-gene panel testing (20–38 cancer susceptibility genes), to determine the spectrum and prevalence of (likely) pathogenic variants (P/LP) and variants of uncertain significance (VUS). In total, 161 (9.7%) participants carried germline P/LP variants in BRCA1/2 and 162 (9.7%) in other cancer predisposition genes. Overall, 341 distinctive P/LP variants were identified in 22 genes, including BRCA1(28%), BRCA2(19%), TP53(11%), MUTYH heterozygous (10%), ATM(9%), CHEK2(6%), and PALB2(5%). The Brazilian variant TP53 R337H (c.1010G > A, p.Arg337His), detected in 1.6% of BC patients and 0.09% of reference controls (RC), was strongly associated with odds of disease (OR = 17.67; 95%CI:9.21–34.76; p < 0.001). Heterozygous MUTYH c.1187G > A and MUTYH c.536A > G, detected in 0.78% (0.90% RC) and 0.48% (0.40% RC) of the patients, respectively, were not associated with the odds of BC, the former with OR = 0.87 (95%CI:0.49–1.53; p = 0.63) and the latter with OR = 1.20 (95%CI:0.58–2.49; p = 0.63). Besides, 766 individuals (46.1%) had 1 or more VUS. Concluding, the use of multi-gene panel testing doubled the identification of mutation carriers in Brazilian BC patients. Special attention should be given to TP53 mutations.


2020 ◽  
Vol 38 (13) ◽  
pp. 1398-1408 ◽  
Author(s):  
Kenneth Offit ◽  
Kaitlyn A. Tkachuk ◽  
Zsofia K. Stadler ◽  
Michael F. Walsh ◽  
Hector Diaz-Zabala ◽  
...  

PURPOSE Despite advances in DNA sequencing technology and expanded medical guidelines, the vast majority of individuals carrying pathogenic variants of common cancer susceptibility genes have yet to be identified. An alternative to population-wide genetic screening of healthy individuals would exploit the trend for genetic testing at the time of cancer diagnosis to guide therapy and prevention, combined with augmented familial diffusion or “cascade” of genomic risk information. METHODS Using a multiple linear regression model, we derived the time interval to detect an estimated 3.9 million individuals in the United States with a pathogenic variant in 1 of 18 cancer susceptibility genes. We analyzed the impact of the proportion of incident patients sequenced, varying observed frequencies of pathogenic germline variants in patients with cancer, differential rates of diffusion of genetic information in families, and family size. RESULTS The time to detect inherited cancer predisposing variants in the population is affected by the extent of cascade to first-, second-, and third-degree relatives (FDR, SDR, TDR, respectively), family size, prevalence of mutations in patients with cancer, and the proportion of patients with cancer sequenced. In a representative scenario, assuming a 7% prevalence of pathogenic variants across cancer types, an average family size of 3 per generation, and 15% of incident patients with cancer in the United States undergoing germline testing, the time to detect all 3.9 million individuals with pathogenic variants in 18 cancer susceptibility genes would be 46.2, 22.3, 13.6, and 9.9 years if 10%, 25%, 50%, and 70%, respectively, of all FDR, SDR, and TDR were tested for familial mutations. CONCLUSION Peridiagnostic and cascade cancer genetic testing offers an alternative strategy to achieve population-wide identification of cancer susceptibility mutations.


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