Assessment of breast cancer risk in BRCA carriers with ovarian cancer: Evaluation of data from longitudinal observation.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13062-e13062
Author(s):  
Tamar Safra ◽  
Barliz Waissengrin ◽  
Deanna Gerber ◽  
Rinat Bernstein Molho ◽  
Amnon Amit ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Prophylactic Mastectomy ◽  
Brca Mutation ◽  
Ashkenazi Jews ◽  
Luminal A ◽  
Luminal B ◽  
History Of

e13062 Background: To confirm data from older studies reporting reduced risks of breast cancer (BC) in BRCA mutated (BRCA+) ovarian cancer (OC) patients and to re-evaluate BC surveillance and/or prophylactic mastectomy in OC patients. Methods: Data on 430 BRCA+ mutation carriers diagnosed with OC between 2000 and 2017 in 6 medical centers (one in the USA and five in Israel) were analyzed. Data included demographics, breast surveillance type, family history, BRCA mutation types, timing of BC diagnosis (before or after OC diagnosis) and family history of cancer. Results: Median age at diagnosis of OC was 55.4 years (range, 31.3-90) and median follow-up was 4.6 years. Most patients were BRCA1 (66.6%), and 35.7% had 185delAG. Most patients (68.4%) were Ashkenazi Jews, 27.4% had a family history of BC and 16.5% were diagnosed with BC before OC. Five percent developed BC following OC diagnosis with a median time to BC diagnosis of 68 months (range, 11-210). Of those diagnosed with BC, 50% had triple-negative BC, 40% had luminal B ER+, PR-, Her2-neg and 10% had luminal A -ER+, PR+, her2-neg. There was a non-significant increase in BC after OC, and in BC prior to OC diagnosis; there was no correlation of BC with family history. No definite deaths from BC were recorded. Conclusions: The incidence of BC after OC diagnosis in the BRCA+ population at a median follow-up of 4.6 years is consistent with prior series. Prophylactic bilateral Surveillance measures should be re-evaluated in this population and may only be needed in long-term disease-free survivors and/or subpopulations to be identified. Clinical trial information: 07-146.

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

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.

Prophylactic mastectomy: The role of risk aversion.

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.

Efficacy of Contralateral Prophylactic Mastectomy in Women With a Personal and Family History of Breast Cancer

2001 ◽  
Vol 19 (19) ◽  
pp. 3938-3943 ◽  
Author(s):  
Shannon K. McDonnell ◽  
Daniel J. Schaid ◽  
Jeffrey L. Myers ◽  
Clive S. Grant ◽  
John H. Donohue ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Risk Reduction ◽  
Contralateral Breast Cancer ◽  
Prophylactic Mastectomy ◽  
Contralateral Prophylactic Mastectomy ◽  
Contralateral Breast ◽  
Breast Cancers ◽  
History Of

PURPOSE: To estimate the efficacy of contralateral prophylactic mastectomy in women with a personal and family history of breast cancer. PATIENTS AND METHODS: We followed the course of 745 women with a first breast cancer and a family history of breast and/or ovarian cancer who underwent contralateral prophylactic mastectomy at the Mayo Clinic between 1960 and 1993. Family history information and cancer follow-up information were obtained from the medical record, a study-specific questionnaire, and telephone follow-up. Life-tables for contralateral breast cancers, which consider age at first breast cancer, current age, and type of family history, were used to calculate the number of breast cancers expected in our cohort had they not had a prophylactic mastectomy. RESULTS: Of the 745 women in our cohort, 388 were premenopausal (age < 50 years) and 357 were post- menopausal. Eight women developed a contralateral breast cancer. Six events were observed among the premenopausal women, compared with 106.2 predicted, resulting in a risk reduction of 94.4% (95% confidence interval [CI], 87.7% to 97.9%). For the 357 postmenopausal women, 50.3 contralateral breast cancers were predicted, whereas only two were observed, representing a 96.0% risk reduction (95% CI, 85.6% to 99.5%). CONCLUSION: The incidence of contralateral breast cancer seems to be reduced significantly after contralateral prophylactic mastectomy in women with a personal and family history of breast cancer.

scholarly journals Primary multiple BRCA associated breast cancer and ovarian cancer (clinical case)

2020 ◽  
pp. 248-257
Author(s):  
I. B. Kononenko ◽  
A. V. Snegovoy ◽  
Y. A. Bozhchenko ◽  
D. N. Kravchenko ◽  
Vladimir Yu. Selchuk ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Clinical Case ◽  
Brca2 Mutation ◽  
Cumulative Risk ◽  
Brca2 Gene ◽  
Left Breast ◽  
Luminal A ◽  
Uterine Tube ◽  
Luminal B

Introduction. The study of mutation in BRCA1/2 genes was first initiated in the USA and Europe, and later in Russia. Statistics indicate that women with the BRCA1/BRCA2 mutation have a higher risk of breast and/or ovarian cancer than the general population. According to different authors, the average cumulative risk among BRCA1 carriers is 65% (range 44–78%) for breast cancer and 39% (range 18–54%) for ovarian cancer. For mutation carriers in the BRCA2 gene, the risk for breast cancer is 45–49%, while the risk for RNA is 11–18%. However, in patients already diagnosed with breast cancer or ovarian cancer, the risk of a second tumor persists throughout life and may remain high even in old age. Treatment of BRCA-associated breast cancer and/or ovarian cancer is almost the same as treatment for sporadic cancer, and includes surgical, radiation, and drug anticancer therapy. However, there are some features that need to be considered in clinical practice. Clinical case. In this article we present the clinical experience of the treatment of a 32-year-old patient with BRCA1-associated primary multiple synchronous breast cancer and metachronous uterine tube cancer. In July 2015, the patient was diagnosed with synchronous cancer of both breast (Luminal A right breast cancer and Luminal B left breast cancer). As part of a treatment and with the patient’s consent, a bilateral adnexectomy was performed. In the histological examination of the operating material, the uterine tube cancer was diagnosed in situ. From 16.03.2016 to the present time the patient receives adjuvant endocrinotherapy without signs of disease progression. Conclusion. This clinical case study presents the importance of a combined approach to the treatment and prevention of BRCAassociated cancer.

scholarly journals Prevalence of germline BRCA mutations in HER2-negative metastatic breast cancer: global results from the real-world, observational BREAKOUT study

2020 ◽  
Vol 22 (1) ◽  
Author(s):  
Joyce O’Shaughnessy ◽  
Christine Brezden-Masley ◽  
Marina Cazzaniga ◽  
Tapashi Dalvi ◽  
Graham Walker ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Ovarian Cancer ◽  
Risk Factor ◽  
Metastatic Breast Cancer ◽  
Family History ◽  
Metastatic Breast ◽  
Cytotoxic Chemotherapy ◽  
First Line ◽  
History Of

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.

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

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.

Survival profile in breast cancer molecular subtypes without systemic and locoregional treatment.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 11599-11599
Author(s):  
Sherry X. Yang ◽  
Eric Polley
Keyword(s):  
Breast Cancer ◽  
Prognostic Factors ◽  
Molecular Subtypes ◽  
Multivariable Analysis ◽  
Cox Proportional Hazards Model ◽  
Locoregional Therapy ◽  
Rank Test ◽  
Luminal A ◽  
Luminal B

11599 Background: It is unclear whether survival varies among breast cancer molecular subtypes without systemic and locoregional therapy. This study aims to evaluate the survival profile by molecular subtypes after surgery. Methods: In total, we evaluated 301 women with invasive breast cancer with stage I, II or III disease. Patients were classified into four major breast cancer subtypes by immunohistochemistry/FISH classifiers: luminal-A (ER+ and/or PR+/HER2-), luminal-B (ER+ and/or PR+/HER2+), HER2-enriched (HER2+/ER-/PR-) or basal-like (ER-/PR-/HER2-; triple-negative). Overall survival (OS) was analyzed by Kaplan-Meier analysis, and log-rank test for differences. Association between clinical outcome and subtype adjusting for breast cancer prognostic factors was assessed by multivariable Cox proportional hazards model. Results: All patients did not receive systemic chemotherapy and hormone therapy as well as radiation therapy. Luminal A was the most common subtype (N = 224), followed by basal-like (N = 43), luminal B (N = 21) and HER2-enriched (N = 13). Median follow-up for OS was 197 months (range: 1 – 273 months). Age at diagnosis was statistically different among the subtypes, with basal-like and luminal B having high proportions less than 50 years (P = 0.047). Patients with basal-like and HER2-enriched had more high grade tumors (P < 0.001). Notably, there was no difference in OS among the four subtypes (log-rank P = 0.983). In multivariable analysis, the adjusted hazard ratio (HR) was 1.1 for luminal A vs. luminal B (P = 0.781), 0.62 in luminal A vs. HER2-enriched (P = 0.273), or 0.67 in luminal A vs. basal-like (P = 0.158). In contrast, the adjusted HR were 2.2 in age less than 50 years (P = 0.0017), and 1.1 for number of positive nodes (P = 0.00074). Conclusions: OS, through long-term clinical follow-up, is not significantly different among molecular subtypes if not controlling for other prognostic factors in patients who only received surgery. Age and number of positive nodes are independent prognostic factors in patients with no systemic and locoregional treatments.

Efficacy of Bilateral Prophylactic Mastectomy in Women with a Family History of Breast Cancer

1999 ◽  
Vol 54 (6) ◽  
pp. 381-383
Author(s):  
Lynn C. Hartmann ◽  
Daniel J. Schaid ◽  
John E. Woods ◽  
Thomas P. Crotty ◽  
Jeffrey L. Myers ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Prophylactic Mastectomy ◽  
Bilateral Prophylactic Mastectomy ◽  
History Of
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