Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

Lobo, Miriam; López-Tarruella, Sara; Luque, S. Perez; Lizarraga, Santiago; Flores-Sanchez, C; Bueno, Oscar; Solera, Jesús; Jerez, Yolanda; Val, Ricardo González del; Palomero, María Isabel; Cebollero, M.; Echavarría, Isabel; Torres, Gustavo; Martín, Miguel; Márquez-Rodas, Iván

doi:10.1007/s10897-017-0187-3

Cited by 6 publications

(24 citation statements)

References 46 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…16 A recent study from a university-based hospital reported a significant increase in their genetic referral rates from 26% to 52% after the implementation of a multidisciplinary Heredofamilial Cancer Unit, which offers cancer risk assessment services provided by a medical oncologist trained in human genetics and genetic counseling, and access to a multidisciplinary team of breast cancer providers including a gynecologist, a radiologist, an oncology nurse, and a psychologist. 17…”

Section: Discussionmentioning

confidence: 99%

Genetic Counseling Referral Rates in Long-Term Survivors of Triple-Negative Breast Cancer

Barcenas

Shafaee

Sinha

et al. 2018

J Natl Compr Canc Netw

View full text Add to dashboard Cite

Inherited gene mutations (pathogenic variants) cause 10% of breast cancers. pathogenic variants predispose carriers to triple-negative breast cancer (TNBC); around 30% of patients with TNBC carry pathogenic variants. The 2018 NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian recommend genetic counseling referrals for patients with TNBC diagnosed at age ≤60 years. This study sought to describe genetic counseling referral patterns among long-term TNBC survivors at The University of Texas MD Anderson Cancer Center. This single-institution retrospective analysis of female long-term (disease-free for ≥5 years) TNBC survivors sought to determine the rate of genetic counseling referral among patients diagnosed at age ≤60 years between 1992 and 2008. Patients who underwent treatment and surveillance visits at our institution and were followed until 2017 were included. We collected pathogenic variant status among tested patients. Descriptive statistical methods and a univariate analysis were used to identify patient characteristics associated with genetic counseling referral. We identified 646 female long-term TNBC survivors with a median age at diagnosis of 47 years. Of these, 245 (38%) received a recommendation for a genetic counseling referral. Among those referred, 156 (64%) underwent genetic testing, and 35% of those tested had pathogenic variants. Interestingly, among those referred, 20% declined genetic testing. The rate of genetic referrals improved over time, from 25% among TNBC survivors whose last surveillance visit was between 2011 and 2013 to 100% among those whose last surveillance visit was between 2014 or later. Younger age and premenopausal status at diagnosis and a family history of breast or ovarian cancer were associated with an increased rate of referral for genetic counseling. Among long-term TNBC survivors, the rate of referral to genetic counseling increased over time, and among those tested, 35% carried a pathogenic variant. Survivorship care provides an excellent opportunity to refer eligible patients for genetic counseling.

show abstract

Section: Discussionmentioning

confidence: 99%

Genetic Counseling Referral Rates in Long-Term Survivors of Triple-Negative Breast Cancer

Barcenas

Shafaee

Sinha

et al. 2018

J Natl Compr Canc Netw

View full text Add to dashboard Cite

show abstract

“…Previous screening approaches for genetic predisposition were generally based on partial highpenetrance gene mutations. These approaches found only a limited number of breast cancer cases were attributable to heredofamilial disorders (52), leaving the vast majority of cases as sporadic-like, including TNBC (18). We hypothesized that these sporadic-like cases involved germline mutations.…”

Section: Discussionmentioning

confidence: 99%

“…MY, QZ, XL, TZ, MC, JX, CY, and HG performed the experiments. 18 YF, GN, QZ, SH, CZ, GT, YQS, and MQZ analyzed the data. YF, MY, ZF, and GN wrote the paper.…”

Section: Acknowledgementmentioning

confidence: 99%

“…TNBC is clinically aggressive because 1) the average age of initial diagnosis is 4 -13 years earlier compared to other types of breast cancer (5)(6)(7)(8)(9)(10)(11)(12); 2) The five-year survival rate is low, which reflects fast progression and poor prognosis (13)(14)(15); 3) lack of efficient therapy strategies due to the lack of either endocrine or anti-HER2 targets (12,16,17). Nonetheless, identification of the biomarkers for prognosis at earlier stages including the asymptomatic stage could facilitate timely treatment and expand the surgery window for breast cancer patients -TNBC the most, as in reducing the mortality (18,19).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Rare non-synonymous germline mutations systematically define the risk of triple negative breast cancer

Yang

Fan

et al. 2018

Preprint

View full text Add to dashboard Cite

Early identification of the risk for triple-negative breast cancer (TNBC) at the asymptomatic phase could lead to better prognosis. Here we developed a machine learning method to quantify systematic impact of all rare germline mutations on each pathway. We collected 106 TNBC patients and 287 elder healthy women controls. The spectra of activity profiles in multiple pathways were mapped and most pathway activities exhibited globally suppressed by the portfolio of individual germline mutations in TNBC patients. Accordingly, all individuals were delineated into two types: A and B. Type A patients could be differentiated from controls (AUC = 0.89) and sensitive to BRCA1/2 damages; Type B patients can be also differentiated from controls (AUC = 0.69) but probably being protected from BRCA1/2 damages. Further we found that Individuals with the lowest activity of selected pathways had extreme high relative risk (up to 21.67 in type A) and increased lymph node metastasis in these patients. Our study showed that genomic DNA contains information of unimaginable pathogenic factors. And this information is in a distributed form that could be applied to risk assessment for more cancer types.Significance: We identified individuals who are more susceptible to triple negative breast cancer. Our method performs much better than previous assessments based on BRCA1/2 damages, even polygenic risk scores. We disclosed previously unimaginable pathogens in a distributed form on genome and extended risk prediction to scenarios for other cancers.

show abstract

“…Familial cancer services (FCSs) are specialist clinics that assist in the identification and ongoing care of individuals and families who are at increased risk of cancer because of a hereditary predisposition. 15,16 The introduction of an FCS has been shown to increase both referral of patients eligible for GT and adherence to cancer risk management guidelines. [16][17][18] Lower adherence to risk management guidelines has been reported when women are left to arrange their own care, 18,19 partly attributable to a lack of awareness of guidelines.…”

Section: Introductionmentioning

confidence: 99%

A Microsimulation Model for Evaluating the Effectiveness of Cancer Risk Management for BRCA Pathogenic Variant Carriers: miBRovaCAre

et al. 2019

View full text Add to dashboard Cite

Objectives: To develop a validated model for evaluating the real-world effectiveness of long-term clinical management strategies for women with germline BRCA1 or BRCA2 pathogenic variants.Methods: A microsimulation model was developed that included a BRCA-specific natural history for breast and ovarian cancer, a clinical framework for carrier follow-up, and cancer risk management strategies (breast screening, risk-reducing mastectomy, and bilateral salpingo-oophorectomy). Adherence rates and outcomes for breast screening and risk-reducing surgery were obtained from BRCA carriers seen through a familial cancer service in Melbourne, Australia. The model was assessed for internal and external validity. The model was used to compare women perfectly adhering to screening recommendations versus actual adherence of the clinical cohort.Results: The model accurately predicted cancer incidence, pathology, and mortality. Using actual adherence for breast screening resulted in additional breast cancer deaths (per 1000 women: BRCA1, 2.7; BRCA2, 1.6) compared with perfect screening adherence. This decreased average life expectancy by 0.30 life-years for BRCA1 and 0.07 life-years for BRCA2. When carriers had access to risk-reducing mastectomy, the benefit from improved screening adherence was not significant. Conclusions:The developed model is a good descriptor of BRCA carriers' lifetime trajectory and its modification by use of risk management strategies alone or in combination. Evaluations of breast screening in BRCA carriers may overestimate the benefits of screening programs unless adherence is considered. By incorporating real-world clinical practice and patient behavior, this model can assist in developing clinical services and improving clinical outcomes for carriers.

show abstract

Evaluation of Breast Cancer Patients with Genetic Risk in a University Hospital: Before and After the Implementation of a Heredofamilial Cancer Unit

Cited by 6 publications

References 46 publications

Genetic Counseling Referral Rates in Long-Term Survivors of Triple-Negative Breast Cancer

Genetic Counseling Referral Rates in Long-Term Survivors of Triple-Negative Breast Cancer

Rare non-synonymous germline mutations systematically define the risk of triple negative breast cancer

A Microsimulation Model for Evaluating the Effectiveness of Cancer Risk Management for BRCA Pathogenic Variant Carriers: miBRovaCAre

Contact Info

Product

Resources

About