Management of the contralateral breast in patients with hereditary breast cancer

Approximately 5% of all breast cancers arise on a background of one of the high-risk breast cancer genes (hereditary breast cancer and hereditary breast and ovarian cancer). An estimated 20% of cases arise in the presence of a less striking family history with later average age at onset and lower penetrance, familial breast cancer. For hereditary breast cancer, bilaterality is a recognized feature. Cancers often present at an early age with the contralateral risk high. This article explores the current state of knowledge regarding management options for women with hereditary breast cancer.     

Hereditary Breast Cancer: Risk Assessment Is the Easy Part

Individuals who seek genetic testing to determine hereditary risk of breast cancer may not be aware that genetic testing is uninformative in many high-risk families or that they may be at increased risk of other cancers as well. Many mistakenly believe that current genetic testing provides definitive information about the magnitude of cancer risk to carriers. This article describes the assessment of hereditary risk by pedigree analysis, epidemiology, and genetic testing within the cancer risk assessment and counseling setting, and discusses other information that helps patients to make informed health care decisions. Because the risk of ovarian cancer is increased in many families at high risk of breast cancer, information about prophylactic oophorectomy and hormone replacement therapy is essential. A case history is presented to show the efficacy of cancer risk assessment and counseling when genetic testing is uninformative. ▪     

Breast Cancer Genes

Abstract: The identification of familial breast cancer genes heralds an era of directed breast cancer treatment. Currently, two hereditary breast cancer genes have been identified, BRCA-1 and BRCA-2 . Although accounting for only approximately 5% of all breast cancers, they are being used to identify women with germ-line alterations that are at high risk of developing breast or ovarian cancer. With the identification of such genes comes a need for consideration of the ethical issues associated with testing. These genes are also being examined from a biochemical standpoint encompassing both their biological roles and biochemical pathways in which they reside. Such studies are likely to lead to novel breast cancer therapies.     

Overestimation of hereditary breast cancer risk.

OBJECTIVE: To find out how women with breast or ovarian cancer rate their chances of carrying hereditary factors for these cancers and to determine the extent to which they overestimate their risk. SUMMARY BACKGROUND DATA: BRCA1 and BRCA2 are genes that cause breast and ovarian cancer when they are inherited in families. Testing for disease-associated mutations in these genes is now available commercially. Previous studies have shown that women overestimate their chances of carrying mutations. However, women's perceptions of risk have not been compared to objective estimates or to actual BRCA1 and BRCA2 testing results. METHODS: This study examines estimates of carrying BRCA1 and BRCA2 mutations among women participating in a randomized trial comparing alternative precounseling educational materials. Estimates were provided by participants in a baseline mailed survey. Estimates given by participants were compared to those given by an expert panel and by a statistical model. Testing was offered free of charge and was done in an academic laboratory using standard techniques. Baseline estimates of participating women were compared to the estimates of the expert panel, to the carrier probability provided by the statistical model, and to actual testing results. RESULTS: Women who have a personal history of breast or ovarian cancer significantly overestimate their risk of carrying hereditary factors for breast and ovarian cancer. Self-estimates exceeded the estimates of experts and a statistical model. One hundred women completed testing, and 21 mutations in BRCA1 or BRCA2 were found. Many test-negative women also overestimated their hereditary risk. Some women with a high carrier probability were negative for BRCA1 and BRCA2 mutations. CONCLUSIONS: Overestimation of hereditary factors is common among affected women with a family history of cancer. Pretest education and counseling should reduce these high-risk perceptions. Better estimates of carrier probability will direct more intensive clinical services and research.     

Screening Magnetic Resonance Imaging Recommendations and Outcomes in Patients at High Risk for Breast Cancer

The purpose of this study was to determine magnetic resonance imaging (MRI) screening recommendations and the subsequent outcomes in women with increased risk for breast cancer evaluated by oncology subspecialists at an academic center. Patients evaluated between 1/1/2007 and 3/1/2011 under diagnosis codes for family history of breast or ovarian cancer, genetic syndromes, lobular carcinoma in situ or atypical hyperplasia were included. Patients with a history of breast cancer were excluded. Retrospective review of prospectively acquired demographics, lifetime risk of breast cancer, and screening recommendations were obtained from the medical record. Retrospective review of the results of prospectively interpreted breast imaging examinations and image‐guided biopsies were analyzed. 282 women were included. The majority of patients were premenopausal with a median age of 43. Most (69%) were referred due to a family history of breast or ovarian cancers. MRI was recommended for 84% of patients based on a documented lifetime risk >20%. Most women referred for MRI screening (88%) were compliant with this recommendation. A total of 299 breast MRI examinations were performed in 146 patients. Biopsy was performed for 32 (11%) exams and 10 cancers were detected for a positive predictive value (PPV) of 31% (based on biopsy performed) and an overall per exam cancer yield of 3.3%. Three cancers were detected in patients who did not undergo screening MRI. The 13 cancers were Stage 0–II; all patients were without evidence of disease with a median follow‐up of 22 months. In a cohort of women seen by breast subspecialty providers, screening breast MRI was recommended according to guidelines, and used primarily in premenopausal women with a family history or genetic predisposition to breast cancer. Adherence to MRI screening recommendations was high and cancer yield from breast MRI was similar to that in clinical trials.     

Establishing a Family Risk Assessment Clinic for Breast Cancer

Abstract:  Breast cancer is the most common cancer affecting European women and the leading cause of cancer-related death. A total of 15–20% of women who develop breast cancer have a family history and 5–10% a true genetic predisposition. The identification and screening of women at increased risk may allow early detection of breast cancer and improve prognosis. We established a family risk assessment clinic in May 2005 to assess and counsel women with a family history of breast cancer, to initiate surveillance, and to offer risk-reducing strategies for selected high-risk patients. Patients at medium or high risk of developing breast cancer according to NICE guidelines were accepted. Family history was determined by structured questionnaire and interview. Lifetime risk of developing breast cancer was calculated using Claus and Tyrer-Cuzick scoring. Risk of carrying a breast cancer-related gene mutation was calculated using the Manchester system. One thousand two hundred and forty-three patients have been referred. Ninety-two percent were at medium or high risk of developing breast cancer. Formal assessment of risk has been performed in 368 patients, 73% have a high lifetime risk of developing breast cancer, and 72% a Manchester score ≥16. BRCA1/2 mutations have been identified in 14 patients and breast cancer diagnosed in two. Our initial experience of family risk assessment has shown there to be a significant demand for this service. Identification of patients at increased risk of developing breast cancer allows us to provide individuals with accurate risk profiles, and enables patients to make informed choices regarding their follow-up and management.     

Limitations of the Gail model in the specialized breast cancer risk assessment clinic

The Gail model is a risk assessment tool that is accurate for general breast cancer risk screening. Because of the limited way that this model incorporates family history information, however, there are concerns that it may underestimate risk for many women attending specialized breast cancer risk assessment clinics. We collected comprehensive breast cancer risk factor information for 213 women attending a specialized breast cancer risk assessment clinic using a modified version of the CancerGene software. Breast cancer risk was calculated using the models of Gail and Claus as well as BRCAPRO and the tables of Bodian (for women with lobular neoplasia). Eighty-six percent of the women had a family history of breast cancer. Although 74% of women had risk factor histories that are thought to confound the Gail model (family history of breast cancer in second-degree relatives, family history of breast cancer before the age of 50, family history of bilateral breast cancer, family history of ovarian cancer, or personal history of lobular neoplasia), the inclusion of other models increased the risk level assignment in only 13% of the cases. We conclude that the Gail model is an appropriate risk assessment tool for most women attending specialized clinics, although the inclusion of models better able to account for family history information and personal history of lobular neoplasia is required to accommodate all women.     

Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome

BackgroundThe majority of women who undergo genetic testing due to a significant family history of breast cancer will receive a negative result. The purpose of this study was to calculate the lifetime risk of breast cancer in women undergoing genetic counseling who received an uninformative genetic test result.MethodsA retrospective chart review of mutation-negative women presenting to a cancer risk assessment clinic was performed. Lifetime risks of breast cancer were calculated using the Claus, Gail, and Tyrer-Cuzick risk assessment models.ResultsApproximately half (51%) of the women were classified as high-risk by at least one risk assessment model. The Tyrer-Cuzick model identified the highest proportion (43.2%) of patients as high-risk. Four percent (n = 4) of the sample was considered high-risk by all three models.ConclusionsMore than half (51%) of women who underwent genetic counseling and received an uninformative negative genetic test result had a significantly elevated risk for the development of breast cancer. It is, therefore, imperative that women do not conclude that a negative genetic test result represents a lack of risk.     

家族性胰腺癌

家族性胰腺癌（familial pancreatic cancer,FPC）是已经确定的遗传肿瘤综合征,占全部胰腺癌的3％左右。因此,对FPC的研究将有利于发现胰腺癌的高危人群,包括家族中出现胰腺癌的其他成员和其他遗传肿瘤综合征：如皮肤黏膜黑色素斑一胃肠道多发性息肉综合征（Peutz—Jeghers综合征）,家族性非典型恶性黑色素瘤,家族性乳腺卵巢癌综合征,遗传性非腺瘤性结直肠癌等。胰腺癌易患基因和环境因素的确定将能够更加准确预测发病的危险,加强对高危人群的随访和及时的根治性手术是改善预后的重要方法。     

Predictors of breast cancer development in a high-risk population

BACKGROUND: The purpose of this study was to investigate the strongest predictors of breast cancer in a high-risk population and to increase our understanding of the possible interactions between risk factors. METHODS: The Women At Risk High-Risk Registry provided the study population. The variables of interest included age at enrollment, presence of lobular carcinoma in situ (LCIS), atypical ductal hyperplasia (ADH), atypical lobular hyperplasia, family history of breast cancer, body mass index, and Gail scores (5-year high-risk > or =1.7%). Univariate and multivariate analyses were conducted with the Cox proportional hazards regression model and years of follow-up evaluation as the time scale. RESULTS: Out of 1553 high-risk women, 79 (5%) developed breast cancer during a median follow-up period of 5 years. Results from the multivariate Cox model demonstrated that FHBC (hazard ratio [HR] = 1.76; 95% confidence interval [CI], 1.05-2.97), ADH (HR = 1.90; 95% CI, 1.16-3.13), LCIS (HR = 1.71; 95% CI, .99-2.95), and a body mass index > or =30 (HR = 2.22; 95% CI, 1.14-4.35) were statistically significant predictors of breast cancer within this high-risk population. CONCLUSIONS: These results support current literature showing the synergistic increase in risk for patients with ADH, LCIS, and a positive family history of breast cancer. Obesity was also a strong predictor of breast cancer risk, which suggests that there may be a potentiating effect of obesity on other risk factors. Obesity may represent a modifiable risk factor, providing women with an opportunity to reduce their risk with lifestyle modification. Women with a strong family history of breast cancer or a diagnosis of ADH or LCIS may benefit most from risk-reduction strategies, chemoprevention, and surveillance.     

Mammary gland architecture as a determining factor in the susceptibility of the human breast to cancer

The developmental pattern of the breast can be assessed by determining the composition of the breast in specific lobular structures, which are designated as lobules type 1 (Lob 1), lobules type 2 (Lob 2), and lobules type 3 (Lob 3), with Lob 1 being the less developed and Lob 3 being the most differentiated or with the highest number of ductules per lobular unit. In the present work, the patient population consisted of three groups of women who underwent surgical procedures: The first group included women who underwent reduction mammoplasty (RM) for cosmetic reasons. The second group included women who underwent prophylactic subcutaneous mastectomy after genetic counseling for either carrying the BRCA-1 gene or belonging to a pedigree with familial breast cancer (FAM), and the third group included women who underwent modified radical mastectomy (MRM) for the diagnosis of invasive carcinoma. The RM group consisted of 33 women, of whom 9 were nulliparous and 24 were parous. The FAM group consisted of 17 women, of whom 8 were nulliparous and 9 were parous. The MRM group consisted of 43 women, of whom 7 were nulliparous and 36 were parous. The analysis of the lobular composition of all of the samples from the RM group, which is considered the control group, revealed that Lob 1 represented 22%, Lob 2 represented 37%, and Lob 3 represented 38%, whereas the tissue examined from the FAM and MRM groups contained a preponderance of Lob 1 at 48% and 74%, respectively, over Lob 3, which was 10% and 3%, respectively. When the results of the analysis of breast tissue were separated according to the pregnancy history of the donor, it was found that in the control group or RM, there was a significant difference in lobular composition. Nulliparous women of the RM group showed a preponderance of Lob 1 (46%) over parous women, which contained only 17%, whereas the percentage of Lob 3 in the nulliparous group was significantly lower (7%) than the parous group (48%). In the breast tissues obtained from FAM and MRM, no significant differences in lobular composition were observed, as all of the samples contained a higher concentration of Lob 1, independent of the pregnancy history. The breast tissue of FAM and MRM of parous women had a developmental pattern that was similar to that of nulliparous women of the same group and that was less developed than the breast of parous women of the control group. An important difference between the Lob 1 of the FAM group versus the control (RM) and the MRM group was that most of these lobules had thin ductules with an increase in hyalinization of the intralobular stroma manifested in the whole-mount preparation as an alteration in the branching pattern. The data suggest that the breast tissue of women with invasive cancer, as well as those from a background of familial breast cancer, have an architectural pattern different from the control or normal tissues and that the BRCA-1 or related genes may have a functional role in the branching pattern of the breast during lobular development, mainly in the epithelial stroma interaction.     

Risk for breast cancer and management of unaffected individuals with non‐BRCA hereditary breast cancer

About 5%‐10% of breast cancer is hereditary with BRCA1 and BRCA2 being the most common genes associated with hereditary breast cancer (HBC). Several additional genes have recently been associated with HBC. These genes can be classified as highly or moderately penetrant genes with lifetime risk >30% or 17%‐30%, respectively. Highly penetrant genes associated with HBC include TP53, PTEN, CDH1, STK11, and PALB2. While, moderately penetrant genes include CHEK2, ATM, BARD1, BRIP1, NBN, NF1, RAD51D, and MSH6. Breast cancer risk and recommendations for screening and risk‐reduction vary by gene. In general, screening breast MRI is recommended for women at >20% lifetime risk, which includes women with mutations in highly penetrant genes and the majority (but not all) moderately penetrant genes. Consideration of chemoprevention is recommended for women with mutations in high and moderately penetrant genes. Risk‐reducing mastectomy does reduce the risk of breast cancer to the greatest extent and can be considered for women with highly penetrant genes. However, this procedure is associated with significant morbidities that should be considered, especially given the benefit of using screening breast MRI for high‐risk women. BSO is only recommended for women with mutations in genes associate with increased risk for ovarian cancer and not as a breast cancer risk‐reducing strategy. As more women undergo testing, additional genes may be identified and risk estimates for current genes and management recommendations may be modified.     

Preventive mastectomy in patients at breast cancer risk due to genetic alterations in the<Emphasis Type="Italic"> BRCA1</Emphasis> and<Emphasis Type="Italic"> BRCA2</Emphasis> gene

BACKGROUND: The availability of genetic testing for inherited mutations in the BRCA1 and BRCA2 gene provides potentially valuable information to women at high risk of breast and ovarian cancer. METHODS AND FOCUS: We review the literature on the value of prophylactic surgical strategies in patients with hereditary predisposition to develop breast cancer and discuss the surgical options available in high-risk cancer patients, decision analyses, and possible complications. RESULTS: Preventive surgical interventions to reduce cancer risk in high-risk patients are often strongly recommended. A patient's life-time risk to develop breast cancer in the presence of BRCA1 and BRCA2 mutations is 50-90%. Despite the reduction in the risk of developing breast cancer, prophylactic mastectomy often leads to significant physical and psychological sequelae.     

MRI Screening in a Clinic Population with a Family History of Breast Cancer

Background Breast MRI is increasingly being used in patients at increased risk for breast cancer; however, guidelines for MRI screening are inadequately defined. We describe our experience with MRI screening in a large population of women with a family history of breast cancer. Methods We retrospectively reviewed the Memorial Sloan–Kettering breast cancer surveillance program prospective database from April 1999 to July 2006. Patients with a family history of breast cancer and at least 1 year follow-up were identified. All patients were offered biannual clinical breast examination (CBE) and annual mammography (MMG). MRI screening was performed at the discretion of the physician and patient. Results Family history profiles revealed 1,019 eligible patients; median follow-up was 5.0 years. MRI screening was performed in 374 (37%) patients resulting in a total of 976 MRIs during the study period. Cancer was detected in 9/374 patients (2%) undergoing MRI screening. Seven cancers were detected by MRI only, for a cancer detection rate of 0.7% (7/976) for screening MRI. When stratified by family risk profile, the positive predictive value (PPV) of MRI was higher (13%) in those patients with the strongest family histories and lower (6%) in patients with less significant family histories. Conclusions MRI screening can be a useful adjunct to CBE and MMG in patients with high-risk family histories of breast cancer, yet it has low yield in patients with lower-risk family histories. These data suggest that MRI screening should be reserved for those at highest risk. Patrick I. Borgen is currently affiliated with Maimonides Cancer Center, Brooklyn, NY, USA.     

Genetic Counseling and the Advanced Practice Oncology Nursing Role in a Hereditary Cancer Prevention Clinic: Hereditary Breast Cancer Focus (Part I)

Abstract:  Interest in hereditary breast cancer has increased rapidly among all health care providers as well as the laity. A major problem for health care providers, however, is the time and skill required for gathering family history, interpreting the pedigree, and providing genetic counseling for the high-risk patient so that BRCA testing, when indicated, can be pursued and screening and prevention strategies employed by the patient. The fields of hereditary cancer and molecular biology have developed at a rate that makes it difficult for physicians to keep up with this explosive knowledge. Therefore, "Who is going to take care of all of these crucial matters for patient benefit?" is a germane question. Our experience has confirmed that the advanced practice oncology nurse who is interested in cancer genetics can become skilled at providing this service to the patient and his/her family. This study portrays the role of such an oncology nurse in meeting this important public health challenge, with special attention devoted to the logistics of this role in the rapidly emerging field of hereditary breast cancer.     

Personalized prevention in high risk individuals: Managing hormones and beyond

Increasing numbers of women are being identified at ‘high-risk’ of breast cancer, defined by The National Institute of Health and Care Excellence (NICE) as a 10-year risk of ≥8%. Classically women have been so identified through family history based risk algorithms or genetic testing of high-risk genes. Recent research has shown that assessment of mammographic density and single nucleotide polymorphisms (SNPs), when combined with established risk factors, trebles the number of women reaching the high risk threshold. The options for risk reduction in such women include endocrine chemoprevention with the selective estrogen receptor modulators tamoxifen and raloxifene or the aromatase inhibitors anastrozole or exemestane. NICE recommends offering anastrozole to postmenopausal women at high-risk of breast cancer as cost effectiveness analysis showed this to be cost saving to the National Health Service. Overall uptake to chemoprevention has been disappointingly low but this may improve with the improved efficacy of aromatase inhibitors, particularly the lack of toxicity to the endometrium and thrombogenic risks. Novel approaches to chemoprevention under investigation include lower dose and topical tamoxifen, denosumab, anti-progestins and metformin.Although oophorectomy is usually only recommended to women at increased risk of ovarian cancer it has been shown in numerous studies to reduce breast cancer risks in the general population and in those with mutations in BRCA1/2. However, recent evidence from studies that have confined analysis to true prospective follow up have cast doubt on the efficacy of oophorectomy to reduce breast cancer risk in BRCA1 mutation carriers, at least in the short-term.     

Breast cancer as a second primary in patients with prostate cancer--estrogen treatment or association with family history of cancer?

PURPOSE: In a large population based study we reported an increased risk of male breast cancer after prostate cancer. In the current study we performed a comprehensive investigation of whether treatment for prostate cancer and/or family history is responsible for the excess risk. MATERIALS AND METHODS: This study had 2 parts. 1) We performed a nested case-control study in 41 men who had previously been identified with first prostate cancer, followed by male breast cancer and in 81 matched controls with prostate cancer only. The medical records of these men were retrieved and clinical data such as stage, grade and treatment were extracted. 2) We also performed a family study including relatives of men with a diagnosis of prostate as well as breast cancer, irrespective of which was first. The 878 relatives were identified through parish offices and linked to the Swedish Cancer Registry to evaluate the occurrence of breast, prostate and other cancers and calculate if there were any excess risks for different cancers. RESULTS: Cases with prostate plus breast cancer received estrogen treatment more often than controls with prostate cancer only (p = 0.03). The period of estrogen treatment was longer in the cases, although it was not statistically significant. Mean time from prostate cancer diagnosis to breast cancer diagnosis was 47.6 months. Cases and controls did not differ in grade or stage. In the family study an increased risk of prostate cancer was found in relatives (SIR 2.14, 95% CI 1.09 to 3.18). For other cancers no significantly increased risks were found. In 2 families pedigree analysis using the BRCAPRO program (http://www3.utsouthwestern.edu/cancergene/) revealed an estimated 100% and 49% probability in families 1 and 2, respectively, that the proband was a BRCA2 carrier. CONCLUSIONS: Our data suggest that most of the increased risk of breast cancer following prostate cancer can be explained by estrogen treatment. However, in a small number of men with prostate as well as breast cancer pedigree analysis suggests that BRCA2 mutation might be the underlying cause.     

Family history of breast cancer,mammographic breast density and breast cancer risk: Findings from a cohort study of Korean women

BackgroundThis study investigated whether the association between family history of breast cancer in first-degree relatives and breast cancer risk varies by breast density.MethodsWomen aged 40 years and older who underwent screening between 2009 and 2010 were followed up until 2020. Family history was assessed using a self-reported questionnaire. Using Breast Imaging Reporting and Data System (BI-RADS), breast density was categorized into dense breast (heterogeneously or extremely dense) and non-dense breast (almost entirely fatty or scattered areas of fibro-glandular). Cox regression model was used to assess the association between family history and breast cancer risk.ResultsOf the 4,835,507 women, 79,153 (1.6%) reported having a family history of breast cancer and 77,238 women developed breast cancer. Family history led to an increase in the 5-year cumulative incidence in women with dense- and non-dense breasts. Results from the regression model with and without adjustment for breast density yielded similar HRs in all age groups, suggesting that breast density did not modify the association between family history and breast cancer. After adjusting for breast density and other factors, family history of breast cancer was associated with an increased risk of breast cancer in all three age groups (age 40–49 years: aHR 1.96, 95% confidence interval [CI] 1.85–2.08; age 50–64 years: aHR 1.70, 95% CI 1.58–1.82, and age ≥65 years: aHR 1.95, 95% CI 1.78–2.14).ConclusionFamily history of breast cancer and breast density are independently associated with breast cancer. Both factors should be carefully considered in future risk prediction models of breast cancer.     

Random Fine Needle Aspiration of the Breast of Women at Increased Breast Cancer Risk and Standard Risk Controls

Abstract: The diagnosis of occult breast epithelial proliferation by random fine needle aspiration biopsy (FNAB) of the breast remains controversial. However, the detection of proliferative change using FNAB would potentially improve assessment of breast cancer risk among women entering chemoprevention trials. To assess the validity of this procedure in risk stratification for breast cancer, we performed FNAB on 70 women while they were anesthetized for a variety of general surgical procedures. The contralateral breasts of 32 women with a history of breast cancer (cases) and both breasts of 38 women at standard risk for breast cancer (controls) were subjected to random FNAB. Cytospin preparations from four pooled FNAB passes from each breast were stained by the papanicolaou technique and interpreted according to previously published criteria. Inadequate aspirates comprised 40% (28/70) of the samples. In the remaining cases, there was a statistically significant difference between the frequency of proliferative changes and atypical hyperplasia in high-risk cases versus controls (Pearson χ²= 9.98, p = 0.019). The contralateral breasts of women with sporadic breast cancer demonstrated proliferative changes at higher rates than breasts of asymptomatic control women. Similarly, in a logistic regression model, the odds of a diagnosis of breast cancer increased with the presence of proliferative changes with or without atypia [odds ratio (OR) = 3.6, p < 0.02]. This study suggests that FNAB may have a role in the further stratification of high-risk women and provide a suitable sample for the monitoring of surrogate end point biomarkers in chemoprevention trials.     

The Impact of Mental Illness on Uptake of Genetic Counseling for Hereditary Breast Cancer and Ovarian Cancer in a Multiethnic Cohort of Breast Cancer Patients

We evaluated whether mental illness is a barrier to genetic counseling for hereditary breast and ovarian cancer (HBOC) in multiethnic breast cancer patients. We conducted a retrospective analysis of 308 women with newly diagnosed breast cancer and eligible for HBOC genetic testing seen in the breast clinic of an academic, urban medical center from 2007 to 2015. Uptake of genetic services and history of mental health disorder (MHD), defined as a psychiatric diagnosis or treatment with an antidepressant, mood stabilizer, anxiolytic, or antipsychotic medication, were ascertained by medical chart review. The mean age at breast cancer diagnosis was 56 years, with 44% non‐Hispanic whites, 37% Hispanics, and 15% non‐Hispanic blacks. Ninety‐nine (32%) women met study criteria for MHD, 73% had a genetics referral, 57% had genetic counseling, and 54% completed BRCA testing. Uptake of genetic counseling services did not differ by race/ethnicity or presence of MHD. In multivariable analysis, younger age at diagnosis, Ashkenazi Jewish heritage, and family history of breast cancer were associated with HBOC genetic counseling. A relatively high proportion of breast cancer patients eligible for HBOC genetic testing were referred to a genetic counselor and referral status did not vary by MHD or race/ethnicity.