scholarly journals Preferences for multigene panel testing for hereditary breast cancer risk among ethnically diverse BRCA-uninformative families

2017 ◽  
Vol 9 (1) ◽  
pp. 81-92 ◽  
Author(s):  
Belinda Vicuña ◽  
Harold D. Delaney ◽  
Kristina G. Flores ◽  
Lori Ballinger ◽  
Melanie Royce ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Hereditary Breast Cancer ◽  
Ethnically Diverse ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Multigene Panel Testing and Breast Cancer Risk

JAMA Oncology ◽  
2017 ◽  
Vol 3 (9) ◽  
pp. 1176 ◽  
Author(s):  
Elias I. Obeid ◽  
Michael J. Hall ◽  
Mary B. Daly
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals “Decoding hereditary breast cancer” benefits and questions from multigene panel testing

The Breast ◽  
2019 ◽  
Vol 45 ◽  
pp. 29-35 ◽  
Author(s):  
Chrystelle Colas ◽  
Lisa Golmard ◽  
Antoine de Pauw ◽  
Sandrine M. Caputo ◽  
Dominique Stoppa-Lyonnet
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

Racial and ethnic differences in the results of multigene panel testing of inherited cancer predisposition genes in breast cancer patients.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1514-1514 ◽  
Author(s):  
Siddhartha Yadav ◽  
Holly LaDuca ◽  
Eric Polley ◽  
Hermela Shimelis ◽  
Nancy Niguidula ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cancer Predisposition ◽  
Ashkenazi Jewish ◽  
Breast Cancer Predisposition ◽  
Panel Testing ◽  
Ethnic Populations ◽  
Predisposition Genes ◽  
Multigene Panel

1514 Background: The prevalence of germline mutations in non-white patients with breast cancer and the germline genetic drivers of breast cancer risk in non-white populations are largely unknown. Methods: The study population included 77,900 women with breast cancer (Non-Hispanic white: 57,003; Black: 6,722; Asian: 4,183; Hispanic: 5,194; Ashkenazi-Jewish: 4,798) who underwent germline multigene panel testing of cancer predisposition genes from March 2012 to December 2016. The prevalence of predisposition gene mutations in racial and ethnic populations relative to non-Hispanic Whites was assessed while accounting for age at diagnosis of breast cancer, family history of breast and ovarian cancer, and estrogen receptor status of breast tumors. Associations between mutations in each gene and breast cancer risk were evaluated using reference controls. Results: The overall frequency of pathogenic mutations in known breast cancer predisposition genes was 9.1% for non-Hispanic Whites, 9.8% for African Americans, 10.2% for Hispanics, 7.6% for Ashkenazi-Jewish, and 7.5% for Asians. BRCA1 mutations were enriched (p < 0.05) and CHEK2 mutations were under-represented in all racial and ethnic populations relative to non-Hispanic Whites. BRCA2 and BARD1 mutations were enriched in African Americans and Hispanics relative to non-Hispanic Whites, whereas PALB2 and RAD51C mutations were enriched in Hispanics. Among genes with mutation counts large enough for assessment, mutations in BARD1, BRCA1, BRCA2, PALB2 and TP53 were significantly associated with clinically relevant increased risks (odds ratio (OR) > 2) of breast cancer across all ethnicities and races. Rates of variants of uncertain significance were highest among Asians (29%), followed by blacks (27%), Hispanics (21%), non-Hispanic whites (16%) and Ashkenazi-Jews (14%). Conclusions: While there is some similarity across ethnic groups, substantial heterogeneity exists in the prevalence of mutations in breast cancer predisposition genes across major racial and ethnic groups in the US population. These findings contribute to our understanding of breast cancer risk and have significant implications for genetic testing, screening, and management of patients with an inherited predisposition to breast cancer, with a need for continued analysis with increased cohort size in ethnic minority groups.

scholarly journals Genetic Variation and the Role of Multigene Panel Testing for Hereditary Breast Cancer: A Single-Institution Experience

Cureus ◽  
2021 ◽  
Author(s):  
Kit Lu ◽  
Meagan Smith ◽  
Tejaswi Kanderi ◽  
Julia Verbiar ◽  
Jennifer Laspe, ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Variation ◽  
Hereditary Breast Cancer ◽  
Single Institution ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Multigene panel testing results for hereditary breast cancer in 1325 individuals: Implications for gene selection and considerations for guidelines

2019 ◽  
Vol 30 ◽  
pp. v36
Author(s):  
G.N. Tsaousis ◽  
N. Tsoulos ◽  
E. Papadopoulou ◽  
K. Agiannitopoulos ◽  
G. Pepe ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Gene Selection ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel
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