Predictors of <i><scp>BRCA</scp>1/2</i> genetic testing among Black women with breast cancer: a population‐based study

Jones, Tarsha; McCarthy, Anne Marie; Kim, Younji; Armstrong, Katrina

doi:10.1002/cam4.1120

Cited by 63 publications

(56 citation statements)

References 49 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…24,25 Whether the low rate of testing is attributable to a lower perceived benefit, as has been suggested in some studies, is not discernable in our study. 24,25 Whether the low rate of testing is attributable to a lower perceived benefit, as has been suggested in some studies, is not discernable in our study.…”

Section: Discussionmentioning

confidence: 44%

Does race predict survival for women with invasive breast cancer?

Walsh

Zabor

Stempel

et al. 2019

Cancer

View full text Add to dashboard Cite

BACKGROUND: Black women with breast cancer have lower survival rates and higher recurrence rates in comparison with white women. This study compared treatment and survival outcomes for black and white women at a highly specialized tertiary care cancer center. METHODS: An institutional review board-approved, retrospective institutional database review was performed to identify all black women treated for invasive breast cancer between 2005 and 2010. Women with a prior history of breast cancer, stage IV cancer, or bilateral breast cancer were excluded. White women had similar exclusion criteria applied and were then matched to black women 1:1 by age and diagnosis year. Clinicopathologic and treatment variables were compared by race. Kaplan-Meier methodology was used to estimate overall survival (OS) and disease-free survival (DFS); a multivariable analysis was conducted with Cox regression models. RESULTS: The study group consisted of 1332 women (666 black). The median tumor size was larger in black women (1.6 vs 1.3 cm; P < .001). Black women had more nodal disease (41.1% vs 32%; P < .001) and had tumors that were more frequently an estrogen receptor-negative (32.9% vs 15%; P < .001), progesterone receptor-negative (47.1% vs 30.2%; P < .001), or triple-negative (TN) subtype (24% vs 8.9%; P < .001) in comparison with white women. Black women also had inferior DFS and OS; race was not an independent prognostic indicator in the multivariable analysis. CONCLUSIONS: Black women had more advanced disease and adverse prognostic indicators at diagnosis, but race was not an independent predictor of outcome. Black women were significantly more likely to have TN breast cancer. Further research is necessary to understand the differences in tumor biology associated with race. Cancer 2019;125:3139-3146.

show abstract

Section: Discussionmentioning

confidence: 44%

Does race predict survival for women with invasive breast cancer?

Walsh

Zabor

Stempel

et al. 2019

Cancer

View full text Add to dashboard Cite

show abstract

“…depression, anxiety, distress) is not significantly different from that of standard family-based screening 31 . Another study found that Black women with breast cancer will only choose to have BRCA1/2 testing if the test is both necessary and affordable 32 . More work is needed to examine the accessibility and affordability of population-based screening.…”

Section: Discussionmentioning

confidence: 99%

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

Behl

Hamel

Ladurantaye

et al. 2020

Sci Rep

View full text Add to dashboard Cite

Inherited germline pathogenic variants are responsible for ~5% of breast cancer globally. Through rapid expansion and isolation since immigration in the early 17 th century, french canadians are a relatively genetically homogenous founder population and therefore represent a unique demographic for genetic contributions to disease. to date, twenty variants in BRCA1, BRCA2, and PALB2 that predispose families to breast and ovarian cancer have been identified as recurring in the French-Canadian founder population. Our objective was to evaluate the clinical efficacy and validity of targeted genetic testing for these variants in Montreal French Canadians. A total of 555 breast cancer cases unselected for family history or age of diagnosis were genotyped, along with 1940 controls without a personal or family history of cancer. A Sequenom genotyping assay identified a pathogenic variant in 0.2% (5 of 1940) of cancer-free controls, and 3.8% (21/555) of breast cancer cases. Almost 10% (12/113) of early onset cases were heterozygous for founder BRCA1 or BRCA2 pathogenic variant. of twenty variants tested, only seven were identified in this study. The option of providing this test as population-based screening is discussed.Breast cancer is the most prevalent cancer worldwide (excluding non-melanoma skin cancer) and the second leading cause of death by cancer in women 1 . A strong family history of breast and/or ovarian cancer, as well as a personal history of early-onset or bilateral breast cancer, are suggestive of a heterozygous germline variant in a high-risk breast cancer susceptibility gene. BRCA1 and BRCA2 are the canonical genes in this family 2 , and the risks for breast cancer to age 80 among female BRCA1 or BRCA2 heterozygotes is 72% and 69%, respectively 3 . Partner and localizer of BRCA2 (PALB2) is essential to homologous recombination repair in response to double-stranded breaks in DNA 4 and is a more recently identified breast cancer predisposing gene. Average cumulative risk of developing breast cancer with a pathogenic germline PALB2 mutation is approximately 35% by age 70, and risk is higher in women with a family history of breast cancer (58%) 5 .

show abstract

“…Prior research on genetic counseling inequality has focused largely on isolated health systems or geographic areas, women, and a single clinical condition (hereditary breast/ovarian cancer) . Further, the literature that does exist is highly contradictory, with disparities noted in age, race/ethnicity, education level, and insurance . Again, the reason for these highly disparate findings is unclear but may reflect the problem of sampling bias introduced by only assessing a limited population.…”

Section: Discussionmentioning

confidence: 99%

“…For example, a number of prior studies have demonstrated that women of black race are less likely to obtain genetic counseling than individuals of white race, but a recent study on women with newly diagnosed breast cancer actually found individuals of black race are more likely to obtain genetic counseling . Similar conflicting findings have been found for age, education, and insurance status . While a number of prior studies have identified higher education to be associated with use of genetic counseling, the above study on women with newly diagnosed breast cancer found that education was not significant .…”

Section: Introductionmentioning

confidence: 87%

“…Further, most previous studies have been confined to a single geographic region or health care system, limiting generalizability. Conclusions from regional research have been mixed in regards to the impact of race, age, education, and insurance on the receipt of genetic counseling . In fact, for any given covariate—such as race—studies have found evidence of both positive and negative associations.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Painting a portrait: Analysis of national health survey data for cancer genetic counseling

Stamp¹,

Gordon

Childers

et al. 2019

Cancer Medicine

View full text Add to dashboard Cite

Background Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited. Research describing the epidemiology of cancer genetic counseling has mainly focused on isolated populations, a single gender (women) and a single condition (hereditary breast and ovarian cancer). Study findings to date are contradictory, making it unclear what, if any, disparities in receipt of cancer genetic counseling exist. Methods Utilizing the 2015 National Health Interview Survey (NHIS)—a cross‐sectional, in person interview survey collecting self‐reported health data for the US population—geographic and sociodemographic factors were compared between those receiving genetic counseling and the national sample. Bivariate analysis and subsequent multivariable logistic regression were performed with stratification by cancer status (affected/unaffected). Reason for (eg, doctor recommended) and focus of (eg, breast/ovarian) genetic counseling were also assessed. To generate nationally representative estimates, all analyses were adjusted for survey weights. Results An estimated 4.8 million individuals in the United States had cancer genetic counseling. On bivariate analysis, there were significant differences in proportions undergoing genetic counseling by sex, race/ethnicity, insurance, citizenship, education, age, and cancer status (P < 0.01). After adjustment, however, only female sex (Odds Ratio [OR]: 1.78 [95% CI: 1.18‐2.67]) remained a significant predictor of genetic counseling among the affected. Among the unaffected, female sex (OR: 1.70 [1.30‐2.21]), non‐Hispanic black race (OR: 1.44 [1.02‐2.05], reference: non‐Hispanic white), graduate education (OR: 1.76 [1.03‐2.98], reference: less than high school), and age (OR: 1.06 [1.01‐1.11]) predicted higher rates of genetic counseling. An estimated 2.1 million individuals have undergone genetic counseling focused on breast/ovarian cancer, 1.3 million on colorectal cancer, and 1.4 million on “other” cancers. Of those receiving genetic counseling focused on breast/ovarian cancer, 3% were male and 97% female (breast cancer alone‐4% male, 96% female); for colorectal cancer, 49% male and 51% female, and for “other” cancers, 60% male and 40% female. The majority of individuals receiving genetic counseling reported they did so because their doctor recommended it (66%), with smaller proportions describing self (12%), family (10%), or media (5%) influences as the primary reason. Conclusion This is the first study to depict the sociodemographic and geographic distribution of cancer genetic counseling at the national level. Despite perceived disparities in access, cancer genetic counseling in the United States appears to be accessed by individuals of diverse racial/ethnic backgrounds, with various insurance coverage and educational levels, and across a broad range of ages and geographic regions. The only sociodemographic factor that independently predicted rec...

show abstract

Predictors of BRCA1/2 genetic testing among Black women with breast cancer: a population‐based study

Cited by 63 publications

References 49 publications

Does race predict survival for women with invasive breast cancer?

Does race predict survival for women with invasive breast cancer?

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

Painting a portrait: Analysis of national health survey data for cancer genetic counseling

Contact Info

Product

Resources

About