BACKGROUND: Revised NCCN guidelines recommend that women ≤60 years with triple-negative breast cancer (TNBC) be referred for consideration of genetic counseling. Small, homogeneous samples have limited evaluation of BRCA mutation prevalence among different ethnicities affected by TNBC subtype. We sought to determine whether the prevalence of BRCA mutations within a TNBC cohort differs by demographic factors. METHODS: We performed a retrospective review of patients with TNBC referred for genetic counseling at two academic Hereditary Cancer Clinics between 2000 and 2012. Demographic data were collected, including age at diagnosis and race/ethnicity. Race was categorized as African American (AA), Ashkenazi Jewish (AJ), Asian, Caucasian, Hispanic, or other. Primary outcome was BRCA mutation status, analyzed by race/ethnicity and age at diagnosis. RESULTS: A total of 469 patients with TNBC who underwent testing for BRCA genetic mutations were identified, of which 450 patients had evaluable BRCA testing results; 139 (30.8 %) had confirmed BRCA1 (n = 106) or BRCA2 (n = 32) mutations. BRCA mutation prevalence differed by ethnicity and race: AA (20.4 %), AJ (50 %), Asian (28.5 %), Caucasian (33.3 %), and Hispanic (20 %). The prevalence of genetic mutations also differed by age at diagnosis: <40 years (43.8 %), 40-49 years (27.4 %), 50-59 years (25.3 %), 60-69 years (12.5 %), and >70 years (16.6 %). CONCLUSIONS: The prevalence of genetic mutations among women with TNBC referred for genetic counseling is high and differs significantly by ethnicity/race and age. This data helps to refine mutation risk estimates among women with TNBC, allowing for more personalized genetic counseling potentially aiding in improved patient decision-making.
BACKGROUND: Revised NCCN guidelines recommend that women ≤60 years with triple-negative breast cancer (TNBC) be referred for consideration of genetic counseling. Small, homogeneous samples have limited evaluation of BRCA mutation prevalence among different ethnicities affected by TNBC subtype. We sought to determine whether the prevalence of BRCA mutations within a TNBC cohort differs by demographic factors. METHODS: We performed a retrospective review of patients with TNBC referred for genetic counseling at two academic Hereditary Cancer Clinics between 2000 and 2012. Demographic data were collected, including age at diagnosis and race/ethnicity. Race was categorized as African American (AA), Ashkenazi Jewish (AJ), Asian, Caucasian, Hispanic, or other. Primary outcome was BRCA mutation status, analyzed by race/ethnicity and age at diagnosis. RESULTS: A total of 469 patients with TNBC who underwent testing for BRCA genetic mutations were identified, of which 450 patients had evaluable BRCA testing results; 139 (30.8 %) had confirmed BRCA1 (n = 106) or BRCA2 (n = 32) mutations. BRCA mutation prevalence differed by ethnicity and race: AA (20.4 %), AJ (50 %), Asian (28.5 %), Caucasian (33.3 %), and Hispanic (20 %). The prevalence of genetic mutations also differed by age at diagnosis: <40 years (43.8 %), 40-49 years (27.4 %), 50-59 years (25.3 %), 60-69 years (12.5 %), and >70 years (16.6 %). CONCLUSIONS: The prevalence of genetic mutations among women with TNBC referred for genetic counseling is high and differs significantly by ethnicity/race and age. This data helps to refine mutation risk estimates among women with TNBC, allowing for more personalized genetic counseling potentially aiding in improved patient decision-making.
Authors: Eric Hahnen; Jan Hauke; Christoph Engel; Guido Neidhardt; Kerstin Rhiem; Rita K Schmutzler Journal: Breast Care (Basel) Date: 2017-02-24 Impact factor: 2.860
Authors: Babatunde Adedokun; Yonglan Zheng; Paul Ndom; Antony Gakwaya; Timothy Makumbi; Alicia Y Zhou; Toshio F Yoshimatsu; Alex Rodriguez; Ravi K Madduri; Ian T Foster; Aminah Sallam; Olufunmilayo I Olopade; Dezheng Huo Journal: Cancer Epidemiol Biomarkers Prev Date: 2019-12-23 Impact factor: 4.254
Authors: Emmanuel Amankwaa-Frempong; Francis Agyemang Yeboah; Samuel Blay Nguah; Lisa A Newman Journal: JAMA Surg Date: 2017-08-01 Impact factor: 14.766
Authors: Teresa K L Boitano; David A Barrington; Sadhvi Batra; Gerald McGwin; Taylor B Turner; Meagan B Farmer; Aimee M Brown; Michael J Straughn; Charles A Leath Journal: Gynecol Oncol Date: 2019-06-10 Impact factor: 5.482
Authors: Delisha A Stewart; Jason H Winnike; Susan L McRitchie; Robert F Clark; Wimal W Pathmasiri; Susan J Sumner Journal: J Proteome Res Date: 2016-08-03 Impact factor: 4.466