The incidence of BRCA1 and BRCA2 variants of unknown significance varies in different ethnic populations

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 10002-10002 ◽  
Author(s):  
D. M. Opatt ◽  
M. Morrow ◽  
M. Daly
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Genetic Testing ◽  
African American Women ◽  
White Women ◽  
Personal History ◽  
Brca1 And Brca2 ◽  
Variants Of Unknown Significance ◽  
Unknown Significance ◽  
History Of

10002 Background: BRCA1 and BRCA2 mutations in the general population are rare. Women with these mutations have a significantly increased risk of invasive breast and ovarian cancer (65–85% and 15–65% cumulative lifetime risk, respectively). Variants of unknown significance (VUS), which are of uncertain clinical importance, account for up to 50% of all identified BRCA1 and BRCA2 sequence alterations1. Methods: Pooled data from all patients presenting to Fox Chase Cancer Center for genetic counseling was examined. Patients underwent genetic testing after detailed genetic counseling. Clinical data, including gender, ethnic background, and personal history of cancer, and total number of patients tested were collected. Results: A total of 1,765 women and 236 men underwent genetic testing. The distribution of ethnicity was: <1% Asian, 2.7% African American, <1% Hispanic, 2.4% other or of more than one ethnicity, 83% White, and 11% unknown. Mutations of BRCA1 and BRCA2 were seen in 13% of the women and 2.7% of the men. VUS were seen in 6.2% of the women and .15% of the men. Of the women positive for a VUS, 2.4% were Asian, 18.1% were African American, 5.5% were Hispanic, 4.7% were more than one ethnicity, 66.9% were White, and 2.4% were Unknown ethnicity. Only .15% of the men tested were positive for a VUS, all of whom were White. Of the 51 African American women tested, 45.1% were positive for a VUS while only 5.5% of the 1,503 White women tested were positive (p<0.0001). Of the females testing positive for a VUS, a personal history of breast cancer was seen in 66.7% of Asians, 78.3% of African Americans, 100% of Hispanics, 83.3% of those more than one race, 61% of Whites, and none of the people of unknown ethnic origin. One of three men testing positive for a VUS reported a history of breast cancer. Conclusions: Identification of VUS occurred disproportionately in African Americans, occurring ten times more often in African American women than White women in our study. Studies to improve classification of VUS as deleterious or neutral are needed to enhance the utility of genetic testing for women at risk, particularly those of African American ethnicity. 1Goldman, DE et al. Am. J. Hum. Genet., 2004. No significant financial relationships to disclose.

Increased Uptake of BRCA1/2 Genetic Testing Among African American Women With a Recent Diagnosis of Breast Cancer

2008 ◽  
Vol 26 (1) ◽  
pp. 32-36 ◽  
Author(s):  
Lisa R. Susswein ◽  
Cécile Skrzynia ◽  
Leslie A. Lange ◽  
Jessica K. Booker ◽  
Mark L. Graham ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Genetic Testing ◽  
African American Women ◽  
White Women ◽  
Breast Cancer Diagnosis ◽  
American Women ◽  
Logistic Regression Models ◽  
Testing Uptake ◽  
Recent Diagnosis

Purpose Studies suggest that African American women are less likely to pursue BRCA1/2 genetic testing than white women. However, such studies are often confounded by unequal access to care. Methods Data from 132 African American and 636 white women, obtained from a clinical database at the University of North Carolina (Chapel Hill, NC) between 1998 and 2005, were analyzed to assess BRCA1/2 genetic testing uptake. Importantly, the clinical setting minimized barriers of both cost and access. Race and time of new breast cancer diagnosis (recent v > 1 year before genetic evaluation) were assessed for association with BRCA1/2 testing uptake using multivariable logistic regression models. Results Both race (P = .0082) and a recent diagnosis of breast cancer (P = .014) were independently associated with testing uptake. African American women had a lower estimated odds of pursuing testing than white women (odds ratio [OR], 0.54; 95%CI, 0.34 to 0.85), and women with a recent diagnosis had a higher OR than those with a remote diagnosis (OR, 1.58; 95% CI, 1.10 to 2.29). In a race-stratified analysis, there was no statistical evidence for association between recent status and testing uptake in the larger white stratum (OR, 1.38, P = .13) while there was for the smaller African American sample (OR, 2.77, P = .018). The test of interaction between race and remote status was not significant (P = .15). Conclusion African American race was associated with an overall decreased uptake of BRCA1/2 genetic testing, even when barriers of ascertainment and cost were minimized. However, among African American women, a recent diagnosis of breast cancer was associated with substantially increased uptake of testing.

scholarly journals Racial Disparities in Breast Cancer and Genomic Uncertainty: A QuantCrit Mini-Review

2020 ◽  
Vol 4 (1) ◽  
pp. 39-57
Author(s):  
Lynette Hammond Gerido
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African American Women ◽  
White Women ◽  
Gene Mutations ◽  
Brca2 Gene ◽  
Brca1 And Brca2 ◽  
Information Behaviors ◽  
Quantitative Studies ◽  
Specific Factors

AbstractAfrican American women are 39-44% more likely to die from breast cancer than white women. This stable racial disparity in mortality rates has persisted since the 1980s and is unlikely to improve unless specific factors leading to disparities are discovered. Racial health disparities should be understood in the context of stable racialized social structures that determine differential access to information. The purpose of this study is to consider how recent quantitative studies using HINTS data might benefit from a critical race agenda to capture the nuances of African American women’s information behaviors, genetic testing awareness, and testing for BRCA1 and BRCA2 gene mutations.

Breast Cancer Risk Estimates for Relatives of White and African American Women With Breast Cancer in the Women's Contraceptive and Reproductive Experiences Study

2006 ◽  
Vol 24 (16) ◽  
pp. 2498-2504 ◽  
Author(s):  
Michael S. Simon ◽  
Jeannette F. Korczak ◽  
Cecilia L. Yee ◽  
Kathleen E. Malone ◽  
Giske Ursin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Family History ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
African American Women ◽  
White Women ◽  
Cancer Risks ◽  
Risk Estimates ◽  
History Of

Purpose Family history is a well-recognized risk factor for breast cancer. Familial aggregation and segregation analyses have estimated breast cancer risk based on family history primarily for white women; such information is limited for African American (AA) women. The purpose of this report is to update breast cancer risk estimates associated with a family history of breast cancer for white and AA women. Methods We used family cancer history from 2,676 white and 1,525 AA women with breast cancer (probands) in the population-based National Institute of Child Health and Human Development's Women's Contraceptive and Reproductive Experiences (CARE) Study to estimate age-specific breast cancer risks in their first degree adult female relatives. Cumulative hazard curves were calculated for relatives of all probands using Cox proportional hazards models, and were stratified by the proband's race and age at diagnosis and number of relatives affected. Results Breast cancer risks for white and AA women with a family history of the disease are similar through age 49 years, but diverge afterwards, with higher risks by age 79 in white women than in AA women (17.5% [SE, 0.9%] v 12.2% [SE, 1.1%]; P < .001). These risks increase as the number of affected first degree relatives increases, reaching 25.2% (SE, 3.4%) and 16.9% (SE, 4.0%) in white and AA women with more than one affected relative, respectively (P = .3). Conclusion We found age-related racial differences in breast cancer risk in women with a family history of breast cancer and have updated risk estimates for white and AA women for clinical use.

The Timothy 0. Webster Papers and the Pearce Civil War Collection: Using Civil War Military Collections for Women's History

Collections ◽  
2018 ◽  
Vol 14 (3) ◽  
pp. 365-381
Author(s):  
Julie L. Holcomb
Keyword(s):  
African American ◽  
Civil War ◽  
Working Class ◽  
African American Women ◽  
White Women ◽  
Final Part ◽  
American Women ◽  
Women's Experience ◽  
History Of ◽  
Civil War Era

Working-class and rural white women and free and enslaved African American women left few material traces, making it difficult for scholars to document their experience of the Civil War. This three-part article uses the story of the Timothy O. Webster Papers, which is part of the Pearce Civil War Collection at Navarro College in Corsi-cana, Texas, to examine the possibilities and limitations of recovering women's experience of the war from military collections. The first part examines the practice of collecting Civil War documents, the history of the Pearce Civil War Collection, and the collection and preservation of the Webster letters. In the second part, I begin to reconstruct Harriet's story using letters from the Webster Papers. The final part returns to the archive to consider how archivists might aid scholars in recovering the story of Civil War-era women from military collections.

The Impact of a Family History of Breast Cancer on Screening Practices and Attitudes in Low-Income, Rural, African American Women

2003 ◽  
Vol 12 (8) ◽  
pp. 779-787 ◽  
Author(s):  
Delia Smith West ◽  
Paul G. Greene ◽  
Polly P. Kratt ◽  
Leavonne Pulley ◽  
Heidi L. Weiss ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Family History ◽  
African American Women ◽  
Low Income ◽  
American Women ◽  
Screening Practices ◽  
History Of ◽  
The Impact

Prevalence of BRCA2 mutations and other clinical characteristics in women with triple-negative breast cancer.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 160-160
Author(s):  
Jennifer Chun ◽  
Freya Ruth Schnabel ◽  
Shira Schwartz ◽  
Jessica Billig ◽  
Karen Hiotis ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Genetic Testing ◽  
Clinical Characteristics ◽  
Triple Negative ◽  
Ductal Carcinoma ◽  
Personal History ◽  
Breast Cancers ◽  
History Of ◽  
Brca2 Mutations

160 Background: Triple-negative breast cancers (TNBC) represent 10%–20% of invasive breast cancers. Current guidelines recommend genetic testing for women who are diagnosed with TNBC. Studies have shown that BRCA1 mutations are associated with TNBC, but there is little information on the relationship of BRCA2 mutations and TNBC. The purpose of this study was to look at the clinical characteristics of TNBC compared to non-TNBC in a cohort of women with newly diagnosed breast cancer. Methods: The Breast Cancer Database at our institution was queried for patients with invasive breast cancer. We included the following variables: age, race, BRCA1,2, tumor characteristics, and personal history of breast cancer (PHBC). Statistical analyses included Pearson’s Chi-Square and Fisher’s Exact Tests. Results: Out of a total of 1,332 women, 125 (9%) had TNBC. The median age for both TNBC and non-TNBC was 59 years. Majority of women had early stage breast cancer (92%) with ductal carcinoma (80%). There was a significantly higher proportion of Blacks and Asians with TNBC (p < 0.0001). Women with TNBC had higher Ki-67 (p < 0.0001). Within the TNBC group, there were 12 (29%) patients who tested positive for BRCA1,2 mutation and 23 (8%) who tested positive for BRCA 1,2 mutations in the non-TNBC group. Interestingly, BRCA1 was not associated with TNBC (p = 0.40) and BRCA2 was significantly associated with TNBC (p < 0.0001). We also found a higher proportion of TNBC in women who had a PHBC (p = 0.01). Conclusions: In our study, women with TNBC were similar in age to women who did not have TNBC. We found that the women with TNBC in our cohort had elevated rates of BRCA2 mutations. We also found that women with a personal history of breast cancer were at risk for developing TNBC. This may be related to the use of hormonal therapy that reduces the risk of ER/PR-positive tumors. Women of all ages are at risk for developing TNBC and older age at TNBC should not deter from genetic testing.

scholarly journals ZDHHC3 as a Risk and Mortality Marker for Breast Cancer in African American Women

2017 ◽  
Vol 16 ◽  
pp. 117693511774664 ◽  
Author(s):  
Nick Kinney ◽  
Robin T Varghese ◽  
Ramu Anandakrishnan ◽  
Harold R “Skip” Garner
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African American Women ◽  
Messenger Rna ◽  
White Women ◽  
African American Woman ◽  
Breast Cancer Mortality ◽  
American Woman ◽  
Ribosomal Gene ◽  
American Women

African American woman are 43% more likely to die from breast cancer than white women and have increased the risk of tumor recurrence despite lower incidence. We investigate variations in microsatellite genomic regions—a type of repetitive DNA—and possible links to the breast cancer mortality gap. We screen 33 854 microsatellites in germline DNA of African American women with and without breast cancer: 4 are statistically significant. These are located in the 3′ UTR (untranslated region) of gene ZDHHC3, an intron of transcribed pseudogene INTS4L1, an intron of ribosomal gene RNA5-8S5, and an intergenic region of chromosome 16. The marker in ZDHHC3 is interesting for 3 reasons: (a) the ZDHHC3 gene is located in region 3p21 which has already been linked to early invasive breast cancer, (b) the Kaplan-Meier estimator demonstrates that ZDHHC3 alterations are associated with poor breast cancer survival in all racial/ethnic groups combined, and (c) data from cBioPortal suggest that ZDHHC3 messenger RNA expression is significantly lower in African Americans compared with whites. These independent lines of evidence make ZDHHC3 a candidate for further investigation.

BRCA1/2 in High-Risk African American Women with Breast Cancer: Providing Genetic Testing through Various Recruitment Strategies

2008 ◽  
Vol 12 (3) ◽  
pp. 401-407 ◽  
Author(s):  
Tuya Pal ◽  
Susan Vadaparampil ◽  
Judy Betts ◽  
Cheryl Miree ◽  
Song Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Genetic Testing ◽  
High Risk ◽  
African American Women ◽  
Recruitment Strategies ◽  
American Women

scholarly journals Factors Influencing Breast Cancer Genetic Testing Among High Risk African American Women: A Systematic Review

2019 ◽  
Author(s):  
Shirley Spencer ◽  
Carolyn Rodgers ◽  
Vickii Coffey
Keyword(s):  
Breast Cancer ◽  
Systematic Review ◽  
African American ◽  
Genetic Testing ◽  
High Risk ◽  
African American Women ◽  
Integrative Model ◽  
Cancer Genetic ◽  
American Women

African American women are disproportionately impacted by breast cancer and its associated effects. They have the highest breast cancer mortality rate of all racial and ethnic groups in the U.S., yet, many high risk African American women do not follow-up with genetic testing despite, having a shorter survival rate and more likely to develop malignancies or aggressive forms of breast cancer than white women. Purpose: This review explored breast cancer genetic follow up and barriers among African American women and made recommendations for designing tailored high risk breast cancer programs. Method: The Integrative Model of Behavioral Prediction framework provided the framework for the review. PubMed, PSYINFO, CINAHL and Cochrane Collection Plus databases were searched for articles published from 2007 to 2017 that focused on attitude and beliefs that influenced genetic testing follow up among African American women. Three reviewers independently reviewed and appraised articles. The quality of the articles was assessed to determine the evidence level and overall recommendations using the Joanna Bridge Institute grading criteria. Results: Sixteen of the 2275 articles reviewed met the inclusion criteria of which, seven showed statistically significance changes related to family concerns, medical mistrust and cost barriers; decreases in breast cancer worry and perceived risk after genetic counseling; and higher education level and diagnosed early increased genetic testing. Conclusions: This systematic review provides greater understanding of how the social determinants of health influence decisions about genetic testing and treatment to determine why African American women who are at risk for breast cancer, do not progress to genetic testing. It provided recommendations for designing sensitive curriculum content for African American women and providers to increase genetic follow-up and reduce breast cancer disparity. The results of this review could be used to design comprehensive, tailored interventions to address the identified barriers, increase breast cancer awareness and early detection, and help minority women make informed, value decisions about genetic testing and treatment options. Recommendations: Future research is required to examine the role communities, agencies and policy makers play in improving clinical outcomes for minorities.

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