Factors associated with the incompliance with mammogram screening among individuals with a family history of breast cancer or ovarian cancer

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.

Download Full-text

Genetic testing in young women with breast cancer: Results from a web-based survey

Journal of Clinical Oncology ◽

10.1200/jco.2007.25.18_suppl.21093 ◽

2007 ◽

Vol 25 (18_suppl) ◽

pp. 21093-21093

Author(s):

J. A. Shin ◽

S. Gelber ◽

J. Garber ◽

R. Rosenberg ◽

M. Przypyszny ◽

...

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Genetic Testing ◽

Family History ◽

High Risk ◽

Young Women ◽

College Education ◽

Web Based ◽

Increased Risk ◽

History Of

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.

Download Full-text

Clinical factors that affect breast cancer risk reduction decisions in high risk women tested for the BRCA1/2 genetic mutation

Journal of Clinical Oncology ◽

10.1200/jco.2006.24.18_suppl.1013 ◽

2006 ◽

Vol 24 (18_suppl) ◽

pp. 1013-1013

Author(s):

A. R. Uyei ◽

K. R. Broglio ◽

T. L. Solomon ◽

K. J. Vogel ◽

C. I. Amos ◽

...

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Family History ◽

Risk Reduction ◽

Breast Biopsy ◽

Prophylactic Mastectomy ◽

Prophylactic Surgery ◽

Clinical Factors ◽

Prophylactic Oophorectomy ◽

History Of

1013 Background: Women with an increased risk for breast cancer have many risk reduction options including: prophylactic mastectomy, prophylactic oophorectomy, chemoprevention, and screening. Women without breast cancer make such decisions in a purely preventive setting and factors that affect their decisions are unclear. Method: We performed an IRB approved retrospective review of the medical records on women who underwent BRCA testing. We evaluated the women without a history of breast cancer to assess clinical characteristics and their relation to decision making. The risk reduction categories analyzed were: prophylactic mastectomy, prophylactic oophorectomy, tamoxifen, increased surveillance with MRI, and standard screening (clinical breast exam and mammography). Patient characteristics were tabulated by clinical decision group and the chi-square test or Fisher’s exact test was used. Results: From 2001, 627 patients have undergone genetic testing. 202 of these women did not have a history of breast cancer among whom 58 were mutation carriers. Most patients chose standard screening (47%) or increased surveillance (38%). 4% chose tamoxifen, 7% chose prophylactic mastectomy, 3% chose both prophylactic mastectomy and oophorectomy, and 5% chose oophorectomy. The tamoxifen group was too small to do further analysis. Increased surveillance did not show any significant association with any of the clinical factors that we evaluated. The majority of women who chose standard screening had a personal history of ovarian cancer (p<0.0001) and had no family history of ovarian cancer (p=0.02). Prophylactic surgeries were significantly associated with positive BRCA status (p=0.01). Women with a family history of ovarian cancer tended to have prophylactic surgery (p=0.02). Women who had DCIS or a breast biopsy tended to have prophylactic mastectomies (p=0.0001 and p<0.001 respectively). Conclusion: In breast cancer free women, BRCA status, family history of ovarian cancer, DCIS, and breast biopsy were associated with prophylactic surgeries. Having ovarian cancer or no family history of ovarian cancer were associated with standard screening. We are performing a questionnaire study to determine the reasons behind these women’s choices. No significant financial relationships to disclose.

Download Full-text

Predictors of contralateral prophylactic mastectomy among patients with ductal carcinoma in situ (DCIS) who underwent evaluation for BRCA genetic testing.

Journal of Clinical Oncology ◽

10.1200/jco.2012.30.15_suppl.1549 ◽

2012 ◽

Vol 30 (15_suppl) ◽

pp. 1549-1549

Author(s):

Nisreen Elsayegh ◽

Angelica M. Gutierrez-Barrera ◽

Kimberly I. Muse ◽

Heather Lin ◽

Diana L. Turco ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Counseling ◽

Family History ◽

Tumor Markers ◽

Prophylactic Mastectomy ◽

Contralateral Prophylactic Mastectomy ◽

Educational Status ◽

Nuclear Grade ◽

Factors Associated ◽

History Of

1549 Background: Patients with DCIS are at increased risk for developing contralateral breast cancer (CBC). Therefore, an increasing number of women with DCIS are electing for contralateral prophylactic mastectomy (CPM). In a previous study involving 2072 women with DCIS, 13.5% chose CPM. In this study, we aimed to evaluate factors associated with CPM in patients with DCIS who underwent genetic counseling for BRCA. Methods: 165 women with pure DCIS, who underwent genetic counseling, were included in the study. Patients’ characteristics were obtained from a prospectively maintained research database at UT M.D. Anderson Cancer Center. Univariate and multivaraite logistic regression analysis were used to determine predictive factors associated with CPM. Patients’ characteristics included age, marital and educational status, tumor markers, nuclear grade, family history with breast (BC) and ovarian cancer (OC), race, Ashkenazi Jewish ancestry, and BRCA genetic test results. Results: Out of 165 patients, 17(10.3%) were found to have a BRCA deleterious mutation. 44(26.7%) underwent CPM. Younger patients (median ≤ 45 yr) were more likely to elect for CPM than older patients (p= 0.0098). Patients who tested positive for a BRCA mutation were more likely to elect for CPM than those who tested negative or were not tested (p= 0.0001). Patients who had a family history of OC (15 (57.7%) were more likely to choose CPM than those who did not (p= 0.0004). These three factors remained significant in the multivariate model (p <0.008). Marital and educational status, tumor markers, nuclear grade, and family history of breast cancer were not significant predictors of CPM. Conclusions: The rate of CPM in patients with DCIS is high. Factors associated with increased likelihood of undergoing CPM include family history of OC, age, and BRCA positivity. Further studies are needed to evaluate patients perception of CBC risk, and if this may play a role in the high number of CPM.

Download Full-text

Prophylactic mastectomy: The role of risk aversion.

Journal of Clinical Oncology ◽

10.1200/jco.2012.30.27_suppl.39 ◽

2012 ◽

Vol 30 (27_suppl) ◽

pp. 39-39

Author(s):

Laura Kruper ◽

Meghana Bhatt ◽

Karin London ◽

Katherine Henderson ◽

Courtney Vito ◽

...

Keyword(s):

Breast Cancer ◽

Family History ◽

Marital Status ◽

Prophylactic Mastectomy ◽

Brca Mutation ◽

Large Population ◽

Factors Associated ◽

Younger Age ◽

History Of ◽

Caucasian Patients

39 Background: The rate of women undergoing contralateral prophylactic mastectomy (CPM) has increased significantly over the past decade. Large population studies have examined factors associated with the use of CPM. We studied the factors associated with CPM within our institution. Methods: A 30-question validated survey was mailed to all patients who underwent mastectomy from 1972 to 2011 and are currently receiving treatment or surveillance at our institution. Responses were analyzed to determine the factors predictive of CPM. Multivariate logistic regression methods were used to calculate odds ratios (OR) and 95% confidence intervals (CI) for possible associations between exposures (including age at surgery, marital status, education, race, family history of breast cancer, and BRCA genetic mutation (BRCA mutation) and likelihood of CPM. Results: 368 of 691 surveys were returned. Younger age was statistically significantly associated with increased likelihood of CPM (p-trend < 0.001). Caucasian patients were 4 times as likely to undergo CPM compared to non-Caucasian patients (OR 3.95, 95%CI=1.89-8.23). Patients with a family history of breast cancer were 3 times as likely to undergo CPM as compared with those with no family history (OR 3.38, 95%CI=1.4-8.16). Married patients were also 3 times as likely to undergo CPM compared with unmarried patients (OR 3.00, 95%CI=1.39-6.52). Reporting a BRCA mutation was highly correlated with younger age, positive family history, higher level of education and marital status. Conclusions: When faced with the decision of whether to undergo a CPM, patients must assess both objective future risks and subjective feelings about those risks. These results suggest that the decision to undergo CPM is associated with known risk factors for the development of contralateral cancer such as younger age and positive breast cancer family history. In addition, multiple demographic factors including Caucasian race and married status increased the likelihood of choosing CPM. This may relate to social support as well socioeconomic status. Further exploration into societal factors that impact CPM use is warranted.

Download Full-text

Family history of breast and/or ovarian cancer (FHBOC) as an independent prognostic factor in triple negative breast cancer overall survival.

Journal of Clinical Oncology ◽

10.1200/jco.2021.39.15_suppl.e12579 ◽

2021 ◽

Vol 39 (15_suppl) ◽

pp. e12579-e12579

Author(s):

Patricia Rioja ◽

Rossana Ruiz ◽

Zaida Morante ◽

Raul Mantilla ◽

Gabriel Antonio De la Cruz Ku ◽

...

Keyword(s):

Breast Cancer ◽

Ovarian Cancer ◽

Overall Survival ◽

Family History ◽

Prognostic Factor ◽

Triple Negative Breast Cancer ◽

Triple Negative ◽

Independent Prognostic Factor ◽

Inheritance Pattern ◽

History Of

e12579 Background: Triple negative breast cancer (TNBC) seems to be associated with a hereditary disease cause based on the earlier age of onset, the high rate of TNBC cases with a positive family history of cancer, and the higher prevalence of breast cancer susceptibility genes. The impact of family history in breast and/or ovarian cancer (FHBOC) in TNBC overall survival is unclear, we conducted this study to evaluate this factor in a Peruvian cohort. Methods: Retrospectively reviewed the medical files from TNBC patients diagnosed at Instituto Nacional de Enfermedades Neoplásicas (INEN) in Lima, Peru, from 2000 to 2014. New cases with histologically confirmed TNBC defined as lack of expression of estrogen and progesterone receptors by immunohistochemistry and HER2- were included. A positive FHBOC was defined as a history of breast and/or ovarian cancer in 1st, 2nd and/or 3rd degree relatives at any age. Patients who had three affected relatives in two generations with two of them being first-degree relatives were considered as exhibiting a clinical autosomal dominant (AD) inheritance pattern. Results: 2006 patients, 99.8% were females. Mean age was 50.2 years old (19 - 95) and 54.6% were postmenopausal. According clinical staging: stage I, 7.2%; stage II, 34.2%; stage III, 51.0%; and stage IV, 6.5%. 76.5% of women underwent surgery. 13% (n=266) had a positive FHBOC. Of these, 44.0% (n=117), 35.0% (n=93), and 13.5% (n=36) had 1st, 2nd, and 3rd degree affected relatives, respectively. An AD inheritance pattern was observed in 20.7% (n=55) of patients with FHBOC. With a median follow-up of 80 months (range 0 - 249), 5y-overall survival (OS) for the whole population was 53.8%. 5 year-OS was significantly better in patients with FHBOC as compared to those without it; 64.5% vs. 52.2%, respectively (HR 0.73; 95% CI [0.60-0.88] p=0.001). FHBOC showed a positive impact on survival rates among patients with stages III and IV (5-year OS 42.3% vs. 32.7%; HR 0.79; 95% CI [0.64-0.99], p=0.041) but not in stages I and II (5-year OS 88.4% vs. 81.3%; HR 0.72; 95% CI [0.49-1.08], p=0.11). The 5y-OS for the patients with an AD inheritance pattern was 70.9%. However, pairwise multiple comparison did not find a significant difference between these patients and those with FHBOC without an AD inheritance pattern (62.8%). On multivariate analysis, FHBOC (HR: 0.80; 95% CI [0.66-0.97], p=0.023), had an independent effect on OS, adjusted for age, menopausal status, clinical stage and surgery. Conclusions: A positive FHBOC was associated with an improved survival in patients with TNBC, suggesting FHBOC as an independent prognostic factor. These results need validation and confirmation through additional retrospective cohorts and analysis in prospective clinical trials.

Download Full-text