scholarly journals First‐ and second‐degree family history of ovarian and breast cancer in relation to risk of invasive ovarian cancer in African American and white women

Author(s):  
Traci N. Bethea ◽  
Heather M. Ochs‐Balcom ◽  
Elisa V. Bandera ◽  
Alicia Beeghly‐Fadiel ◽  
Fabian Camacho ◽  
...  
2006 ◽  
Vol 24 (16) ◽  
pp. 2498-2504 ◽  
Author(s):  
Michael S. Simon ◽  
Jeannette F. Korczak ◽  
Cecilia L. Yee ◽  
Kathleen E. Malone ◽  
Giske Ursin ◽  
...  

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.


2020 ◽  
Vol 22 (1) ◽  
Author(s):  
Joyce O’Shaughnessy ◽  
Christine Brezden-Masley ◽  
Marina Cazzaniga ◽  
Tapashi Dalvi ◽  
Graham Walker ◽  
...  

Abstract Background The global observational BREAKOUT study investigated germline BRCA mutation (gBRCAm) prevalence in a population of patients with human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (MBC). Methods Eligible patients had initiated first-line cytotoxic chemotherapy for HER2-negative MBC within 90 days prior to enrollment. Hormone receptor (HR)-positive patients had experienced disease progression on or after prior endocrine therapy, or endocrine therapy was considered unsuitable. gBRCAm status was determined using baseline blood samples or prior germline test results. For patients with a negative gBRCAm test, archival tissue was tested for somatic BRCAm and homologous recombination repair mutations (HRRm). Details of first-line cytotoxic chemotherapy were also collected. Results Between March 2017 and April 2018, 384 patients from 14 countries were screened and consented to study enrollment; 341 patients were included in the full analysis set (median [range] age at enrollment: 56 [25–89] years; 256 (75.3%) postmenopausal). Overall, 33 patients (9.7%) had a gBRCAm (16 [4.7%] in gBRCA1 only, 12 [3.5%] in gBRCA2 only, and 5 [1.5%] in both gBRCA1 and gBRCA2). gBRCAm prevalence was similar in HR-positive and HR-negative patients. gBRCAm prevalence was 9.0% in European patients and 10.6% in Asian patients and was higher in patients aged ≤ 50 years at initial breast cancer (BC) diagnosis (12.9%) than patients aged > 50 years (5.4%). In patients with any risk factor for having a gBRCAm (family history of BC and/or ovarian cancer, aged ≤ 50 years at initial BC diagnosis, or triple-negative BC), prevalence was 10.4%, versus 5.8% in patients without these risk factors. HRRm prevalence was 14.1% (n = 9/64) in patients with germline BRCA wildtype. Conclusions Patient demographic and disease characteristics supported the association of a gBRCAm with younger age at initial BC diagnosis and family history of BC and/or ovarian cancer. gBRCAm prevalence in this cohort, not selected on the basis of risk factors for gBRCAm, was slightly higher than previous results suggested. gBRCAm prevalence among patients without a traditional risk factor for harboring a gBRCAm (5.8%) supports current guideline recommendations of routine gBRCAm testing in HER2-negative MBC, as these patients may benefit from poly(ADP-ribose) polymerase (PARP) inhibitor therapy. Trial registration NCT03078036.


2003 ◽  
Vol 12 (8) ◽  
pp. 779-787 ◽  
Author(s):  
Delia Smith West ◽  
Paul G. Greene ◽  
Polly P. Kratt ◽  
Leavonne Pulley ◽  
Heidi L. Weiss ◽  
...  

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21093-21093
Author(s):  
J. A. Shin ◽  
S. Gelber ◽  
J. Garber ◽  
R. Rosenberg ◽  
M. Przypyszny ◽  
...  

21093 Background: Young women with breast cancer have an increased risk of harboring a BRCA1/2 mutation. The frequency of genetic testing in this population is not well described. We evaluated the reported frequency and factors associated with genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an international advocacy group for young women with breast cancer. Methods: Items regarding family history and genetic testing were included in a large web-based survey addressing quality of life and fertility issues for young women with breast cancer. All YSC members were invited by email in March 2003 (N= 1,703 women) to participate in this cross-sectional survey. Results: 657 women completed the on-line survey; 622 were eligible for this analysis (age <40, no metastatic or recurrent disease). Mean age at breast cancer diagnosis was 33 years; mean age when surveyed 35.5 years. Stages included: 0 (10%), I (27%), II (49%), III (12%), missing (3%). 90% of women were white; 64% married; 49% with children; 78% had at least a college education; 42% of women reported a 1st or 2nd degree relative with breast or ovarian cancer, and 13% considered themselves high-risk for harboring a genetic mutation at the time of diagnosis. At the time of the survey, 23% of women had undergone genetic testing, and 26% of those tested reported that a mutation was found. In a multivariate model, women who were younger (age 36–40 vs. age =30, O.R. 2.26, p=0.004), more educated (< college vs. > college education, O.R. 2.62, p=0.0009), had a family history of breast or ovarian cancer (O.R. 3.15, p<0.0001), and had had a mastectomy (O.R. 1.99, p=0.001) were more likely to have undergone genetic testing. Non-significant covariates included: age at survey, stage, time since diagnosis, race, marital status, employment, finances, insurance, number of children, comorbidities, baseline anxiety and depression, and fear of recurrence. Conclusion: The majority of women diagnosed with breast cancer age 40 and younger do not undergo genetic testing. Younger, more educated women with a family history of breast or ovarian cancer are more likely to get tested. Further research to define the appropriateness of genetic testing in this relatively high-risk population is warranted. No significant financial relationships to disclose.


2019 ◽  
Vol 37 (27_suppl) ◽  
pp. 154-154
Author(s):  
Katie Marsh ◽  
Thad Benefield ◽  
Sheila Lee ◽  
Louise Henderson

154 Background: The Oncotype DX (ODX) is a 21-gene assay that quantifies the risk of breast cancer recurrence and predicts chemotherapy benefit among early stage, hormone-receptor positive patients. Most major insurance carriers now cover testing. We sought to determine factors associated with ODX testing in a diverse patient population. Methods: Data from the Carolina Mammography Registry (CMR), a breast imaging registry in North Carolina (NC) was used for this analysis. We included women ages 18 and over diagnosed with breast cancer from 2010-2017 who had a breast imaging exam at a CMR facility with no personal history of breast cancer. ODX testing was obtained through linkage with the NC Central Cancer Registry. Using a backwards elimination selection strategy, we explored the association of patient residence (urban versus rural), age, race, breast density, and family history of breast cancer on receipt of ODX testing. Results: Our population included 12,329 breast cancers among women that were 24.2% non-white with a median age of 64 years (11.2% < 50 years at time of diagnosis). The majority of our sample had dense breasts (52.0%), no family history of breast cancer (80.9%), and lived in urban areas (66.3%). Use of ODX testing increased from 15.7% in 2010 to 24.8% in 2017 (p-value for time trend < 0.00001). Compared with white women, black women were less likely to receive ODX testing (aOR = 0.57; 95% CI: 0.51-0.65), as were women of other races (aOR = 0.68; 95% CI: 0.51-0.90). We found that for every year age increased, the likelihood of receiving ODX testing decreased (aOR = 0.98, 95% CI: 0.97-0.98). Patient residence and breast density influenced the association of ODX testing. Among women in urban areas, women with dense versus non-dense breasts were more likely to receive ODX testing (aOR = 1.13; 95% CI: 1.01-1.27). Among women in rural areas, density was not associated with ODX testing (aOR = 0.91; 95% CI: 0.78-1.06). Conclusions: In our cohort, ODX testing was more common among younger white women with dense breast tissue living in urban areas of NC. Additional research to understand differences in testing by rural/urban areas are warranted to ensure that all appropriate patients receive this genetic assay.


2011 ◽  
Vol 52 (5) ◽  
pp. 394-397 ◽  
Author(s):  
Denise Spector ◽  
Lisa A. DeRoo ◽  
Dale P. Sandler

2006 ◽  
Vol 101 (3) ◽  
pp. 317-324 ◽  
Author(s):  
Hongyu Wu ◽  
Kangmin Zhu ◽  
Ismail Jatoi ◽  
Mona Shah ◽  
Craig D. Shriver ◽  
...  

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 10002-10002 ◽  
Author(s):  
D. M. Opatt ◽  
M. Morrow ◽  
M. Daly

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.


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