Abstract A48: Enhancing cancer genomics practice in public health departments to identify women at high risk for hereditary breast and ovarian cancer syndrome (HBOC)

Hereditary breast and ovarian cancer syndrome (HBOC) represents 5–10% of all patients with breast cancer and is associated with high-risk pathogenic alleles in BRCA1/2 genes, but only for 25% of cases. We aimed to find new pathogenic alleles in a panel of 143 cancer-predisposing genes in 300 Mexican cancer patients with suspicion of HBOC and 27 high-risk patients with a severe family history of cancer, using massive parallel sequencing. We found pathogenic variants in 23 genes, including BRCA1/2. In the group of cancer patients 15% (46/300) had a pathogenic variant; 11% (33/300) harbored variants with unknown clinical significance (VUS) and 74% (221/300) were negative. The high-risk group had 22% (6/27) of patients with pathogenic variants, 4% (1/27) had VUS and 74% (20/27) were negative. The most recurrent mutations were the Mexican founder deletion of exons 9-12 and the variant p.G228fs in BRCA1, each found in 5 of 17 patients with alterations in this gene. Rare VUS with potential impact at the protein level were found in 21 genes. Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in BRCA1/2 (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels.

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Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer

Journal of Global Oncology ◽

10.1200/jgo.18.00163 ◽

2019 ◽

pp. 1-14 ◽

Cited By ~ 1

Author(s):

Christina Adaniel ◽

Francisca Salinas ◽

Juan Manuel Donaire ◽

Maria Eugenia Bravo ◽

Octavio Peralta ◽

...

Keyword(s):

Ovarian Cancer ◽

Genetic Testing ◽

High Risk ◽

Genetic Predisposition ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer ◽

Brca1 And Brca2 ◽

Pathogenic Variants ◽

Cancer Program ◽

Genetic Test Results

PURPOSE Little is known about the genetic predisposition to breast and ovarian cancer among the Chilean population, in particular genetic predisposition beyond BRCA1 and BRCA2 mutations. In the current study, we aim to describe the germline variants detected in individuals who were referred to a hereditary cancer program in Santiago, Chile. METHODS Data were retrospectively collected from the registry of the High-Risk Breast and Ovarian Cancer Program at Clínica Las Condes, Santiago, Chile. Data captured included index case diagnosis, ancestry, family history, and genetic test results. RESULTS Three hundred fifteen individuals underwent genetic testing during the study period. The frequency of germline pathogenic and likely pathogenic variants in a breast or ovarian cancer predisposition gene was 20.3%. Of those patients who underwent testing with a panel of both high- and moderate-penetrance genes, 10.5% were found to have pathogenic or likely pathogenic variants in non- BRCA1/2 genes. CONCLUSION Testing for non- BRCA1 and -2 mutations may be clinically relevant for individuals who are suspected to have a hereditary breast or ovarian cancer syndrome in Chile. Comprehensive genetic testing of individuals who are at high risk is necessary to further characterize the genetic susceptibility to cancer in Chile.

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Syphilis Screening

Journal of Pharmacy Technology ◽

10.1177/8755122517691308 ◽

2017 ◽

Vol 33 (2) ◽

pp. 53-59 ◽

Cited By ~ 1

Author(s):

Mitchell Goza ◽

Ben Kulwicki ◽

Julie M. Akers ◽

Michael E. Klepser

Keyword(s):

Public Health ◽

High Risk ◽

Health Care Providers ◽

Health Check ◽

Immunochromatographic Test ◽

Health Departments ◽

Care Providers ◽

Vast Number ◽

Public Health Departments ◽

Syphilis Screening

Objective: To provide a review on the use, percent positive agreement (PPA), percent negative agreement (PNA), and utilization of Syphilis Health Check for syphilis screening in community pharmacies (in coordination with public health departments) in an effort to increase overall syphilis screening in high-risk populations. Data Sources: PubMed was searched for the following keywords: syphilis, sexually transmitted diseases, diagnosis, public health, point-of-care tests. The search included all dates up to December 2016. Study Selection: Data from studies including the use of the Syphilis Health Check Rapid Immunochromatographic Test were included. Data Synthesis: There are many existing tests to aid in the diagnosis of syphilis. The Syphilis Health Check was compared with these assays using PPA and PNA, where it demonstrated a high level of accuracy in the detection of syphilis antibodies. Conclusion: The Syphilis Health Check Rapid Immunochromatographic Test is a Clinical Laboratory Improvement Amendments–waived assay that has been shown to be easy to use and produces results in minutes. As one of the most accessible health care providers, pharmacists have an opportunity to join the fight against syphilis, and in collaboration with public health departments, screen a vast number of high-risk patients and deliver follow-up care as needed.

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Compliance and impact of screening on individuals at high risk of breast and ovarian cancer syndrome (BOCS).

Journal of Clinical Oncology ◽

10.1200/jco.2016.34.15_suppl.e13054 ◽

2016 ◽

Vol 34 (15_suppl) ◽

pp. e13054-e13054

Author(s):

Carmen Guillen ◽

Maria-Teresa Salazar-Lopez ◽

Maria-Dolores Rubio ◽

Miguel Chiva ◽

Silvia Perez-Rodrigo ◽

...

Keyword(s):

Ovarian Cancer ◽

High Risk ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer

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Public Health Approaches and Barriers to Educating Providers about Hereditary Breast and Ovarian Cancer Syndrome

Healthcare ◽

10.3390/healthcare4010019 ◽

2016 ◽

Vol 4 (1) ◽

pp. 19

Author(s):

Angela Trepanier ◽

Laura Supplee ◽

Lindsey Blakely ◽

Jenna McLosky ◽

Debra Duquette

Keyword(s):

Public Health ◽

Ovarian Cancer ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer

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The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

Genes ◽

10.3390/genes12101483 ◽

2021 ◽

Vol 12 (10) ◽

pp. 1483

Author(s):

Luise D. Resch ◽

Alrun Hotz ◽

Andreas D. Zimmer ◽

Katalin Komlosi ◽

Nina Singh ◽

...

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

High Risk ◽

Molecular Genetic ◽

Pathogenic Variant ◽

Molecular Diagnostic ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer ◽

Extended Analysis ◽

Pathogenic Gene

In about 20–30% of all women with breast cancer, an increased number of cases of breast cancer can be observed in their family history. However, currently, only 5–10% of all breast cancer cases can be attributed to a pathogenic gene alteration. Molecular genetic diagnostics underwent enormous development within the last 10 years. Next-generation sequencing approaches allow increasingly extensive analyses resulting in the identification of additional candidate genes. In the present work, the germline molecular diagnostic analysis of a cohort of 228 patients with suspected hereditary breast and ovarian cancer syndrome (HBOC) was evaluated. The 27 pathogenic gene variants initially detected are listed, and their distribution in the high-risk BRCA1 and BRCA2 genes is presented in this study. In ten high-risk patients, in whom, to date, no pathogenic variant could be detected, an extended genetic analysis of previously not considered risk genes was performed. Three variants of uncertain significance and one pathogenic variant could be described. This proves the importance of extended analysis using current molecular genetic methods.

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