Early Onset Breast Cancer in a Registry-based Sample of African-American Women:BRCAMutation Prevalence, and Other Personal and System-level Clinical Characteristics

Abstract

Young Black women are disproportionately afflicted with breast cancer, a proportion of which may be due to BRCA1 and BRCA2 (BRCA) gene mutations. In a sample of Black women with early onset breast cancer, we evaluated BRCA mutations and explored personal and system-level clinical characteristics. Black women diagnosed with invasive breast cancer (age ≤50) were recruited through the state cancer registry. Participants completed a questionnaire, genetic counseling and BRCA testing. Of the 48 women who consented to study participation, 46 provided a usable biologic specimen for BRCA testing. The overall prevalence of BRCA mutations and variants of uncertain significance (VUS) in participants was 6.5% and 34.8%, respectively. Of these, only 14 were referred for genetic counseling prior to study enrollment. Overall, those participants who chose to undergo bilateral mastectomy had a higher number of relatives with breast and ovarian cancer (p = 0.024) and a higher household income (p = 0.009). BRCA mutation prevalence and the high prevalence of VUS in participants are consistent with prior studies. Furthermore, clinical factors such as family history and financial means may influence type of surgery recommended and chosen, at both the provider and patient level, respectively. Finally, the limited number of patients referred for genetic counseling prior to surgical treatment for breast cancer may represent a missed clinical opportunity to inform surgical decisions.

Deleterious BRCA1/2 mutations in an urban population of Black women

“…Our results are consistent with previous findings described by Hall et al [13] in a cross-sectional analysis of 46,276 women who underwent DNA full sequence analysis of BRCA1/2 genes and reported 15.6 % of women of African ancestry with deleterious mutations. However, we report a higher prevalence than what was previously described in cohorts of Black women diagnosed with early onset breast cancer: Pal et al [8] reported a prevalence of 6.5 % in Black women diagnosed with breast cancer before the age of 50 and John et al [9] found a prevalence of 16.7 % if women were younger than 35 years old at diagnosis. Contrary to these studies, our study participants were older with a mean age of 47.6 years.…”

“…To date, most data regarding BRCA1/2 mutations in Black women arise from population-based studies or from cohorts comprised highly selected families [8–12]. Two population-based series of female breast cancer patients found that Black women and non-Hispanic White patients had a similar prevalence of BRCA1 mutations, with estimates of BRCA1 mutation prevalence between 1.3 and 2.9 % [9, 10].…”

Breast cancers from black women exhibit higher numbers of immunosuppressive macrophages with proliferative activity and of crown-like structures associated with lower survival compared to non-black Latinas and Caucasians

“…A recent study on young BL breast cancer patients reports that the prevalence of BRCA mutations among a Florida-based sample of young black women with breast cancer exceeds that previously reported for non-Hispanic white women [55]. However, it is becoming increasingly clear that some of the differences in cancer risk, incidence and survival among individuals of different racial and ethnic backgrounds can be attributed to biological factors other than the inheritance of predisposing tumor suppressor genes [3].…”

The Role of Knowledge on Genetic Counseling and Testing in Black Cancer Survivors at Increased Risk of Carrying a BRCA1/2 Mutation

“…The low referral rate is in concert with a study of at-risk affected and unaffected Black women that found that 68% reported receiving a physician recommendation for genetic counseling (Thompson et al, 2012). Similarly, in a sample of 48 young (≤ 50 years of age) Black breast cancer survivors, only 38% of those who met NCCN guidelines for testing were referred for genetic counseling (Pal et al, 2013). Since receipt of a provider referral is a key predictor of GCT uptake (Schwartz et al, 2005), the fact that more than half of the sample had not been referred is important.…”

“…low referrals), and psychosocial factors such as low knowledge, low awareness, medical mistrust, low perceived cancer risk (Glenn, Chawla, & Bastani, 2012; Mays et al, 2012; Sheppard, Mays, LaVeist, & Tercyak, 2013; Sherman, Miller, Shaw, Cavanagh, & Gorin, 2013). Few studies have focused only on Black at-risk survivors (Brewster et al, 2007; Halbert et al, 2012; Pal et al, 2013). Developing strategies that target modifiable factors to increase GCT services use in at-risk Black survivors is critical to improving care and survival outcomes.…”