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Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.

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Summary

Nearly half of young breast cancer patients completed hereditary breast and ovarian cancer (HBOC) genetic testing. Testing completion varied by clinical factors, not race, but Black women had more pathogenic variants, highlighting the need for genetic counseling in minority populations.

Keywords:
BRCA1/2 genetic testingMultigene panel testingRacial/ethnic minoritiesYoung breast cancer patients

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Area of Science:

  • Oncology
  • Genetics
  • Public Health

Background:

  • Hereditary breast and ovarian cancer (HBOC) genetic testing is recommended for early-onset breast cancer patients.
  • Racial and ethnic disparities in healthcare access and outcomes are prevalent in oncology.
  • Understanding genetic testing patterns in diverse populations is crucial for equitable care.

Purpose of the Study:

  • To investigate racial and ethnic differences in HBOC genetic testing rates and variant detection among young breast cancer patients.
  • To identify factors associated with genetic testing completion in this demographic.
  • To assess trends in genetic testing and variant identification over time.

Main Methods:

  • Retrospective cohort study of women diagnosed with breast cancer at age 50 or younger.
  • Data collected from January 2007 to December 2017 at Columbia University.
  • Analysis of genetic testing completion, variant types (pathogenic/likely pathogenic, variants of uncertain significance), and demographic/clinical factors.

Main Results:

  • 46.2% of 1503 young breast cancer patients completed HBOC genetic testing.
  • Testing completion was linked to younger age, family history, and earlier stage, but not race/ethnicity or insurance status.
  • Black patients had the highest rate of pathogenic/likely pathogenic variants (18.6%); Hispanics and Asians had more variants of uncertain significance.

Conclusions:

  • Genetic testing uptake increased significantly over time, as did the detection of pathogenic and uncertain variants.
  • Racial/ethnic differences were observed in variant types, not testing rates.
  • Targeted genetic counseling is essential for young minority breast cancer patients due to variant complexities.