scholarly journals Gaps in Receipt of Clinically Indicated Genetic Counseling After Diagnosis of Breast Cancer

2018 ◽  
Vol 36 (12) ◽  
pp. 1218-1224 ◽  
Author(s):  
Steven J. Katz ◽  
Kevin C. Ward ◽  
Ann S. Hamilton ◽  
M. Chandler Mcleod ◽  
Lauren P. Wallner ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Los Angeles ◽  
Early Stage ◽  
Pathogenic Mutation ◽  
Variant Of Uncertain Significance ◽  
Younger Women ◽  
Genetic Test Results ◽  
Uncertain Significance ◽  
Risk Patients

Purpose Little is known about the extent to which genetic counseling is integrated into community practices for patients newly diagnosed with breast cancer. We examined the receipt of clinically indicated genetic counseling in these patients. Patients and Methods We surveyed 5,080 patients between the ages of 20 and 79 years, diagnosed from July 2013 to August 2015 with early-stage breast cancer and reported to the SEER registries of Georgia and Los Angeles County. Surveys were linked to SEER clinical data and genetic test results. The study sample (N = 1,711) comprised patients with indications for formal genetic risk evaluation. Results Overall, 47.4% did not get tested, 40.7% tested negative, 7.4% had a variant of uncertain significance only, and 4.5% had a pathogenic mutation. Three quarters (74.6%) received some form of genetic counseling (43.5%, formal counseling and 31.1%, physician-directed discussion). Virtually all tested patients (96.1%) reported some form of genetic discussion (62.2%, formal counseling and 33.9%, physician-directed discussion). However, only one half (50.6%) of those not tested received any discussion about genetics. Younger women were more likely to report some type of counseling, controlling for other factors: odds ratio, 4.5 (95% CI, 2.6 to 8.0); 1.9 (95% CI, 1.1 to 3.3); and 1.5 (95% CI, 1.0 to 2.3) for women younger than 50 years of age, 50 to 59 years of age, and 60 to 69 years of age versus those 70 years of age and older. Patients’ assessments of the amount of information they received about whether to get tested were similarly high whether they were counseled by a genetics expert or by a physician only (80.8% v 79.4% stated information was just right, P = .59). Conclusion Less than one half (43.5%) of patients with clinical indications received formal genetic counseling. There is a large gap between mandates for timely pretest formal genetic counseling in higher-risk patients and the reality of practice today.

scholarly journals Survey on Physicians’ Knowledge and Training Needs in Genetic Counseling in Germany

Breast Care ◽  
2020 ◽  
pp. 1-7
Author(s):  
Julia Dick ◽  
Viktoria Aue ◽  
Simone Wesselmann ◽  
Anne Brédart ◽  
Sylvie Dolbeault ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
High Throughput Sequencing ◽  
Training Needs ◽  
Breast Cancer Patients ◽  
Cross Sectional Survey ◽  
Counseling And Testing ◽  
Genetic Test Results ◽  
Disease Risks ◽  
And Training

<b><i>Background:</i></b> In recent years, germline testing of women with a risk of developing breast and ovarian cancer has increased rapidly. This is due to lower costs for new high-throughput sequencing technologies and the manifold preventive and therapeutic options for germline mutation carriers. The growing demand for genetic counseling meets a shortfall of counselors and illustrates the need to involve the treating clinicians in the genetic testing process. This survey was undertaken to assess their state of knowledge and training needs in the field of genetic counseling and testing. <b><i>Methods:</i></b> A cross-sectional survey within the European Bridges Study (Breast Cancer Risk after Diagnostic Gene Sequencing) was conducted among physician members (<i>n</i> = 111) of the German Cancer Society who were primarily gynecologists. It was designed to examine their experience in genetic counseling and testing. <b><i>Results:</i></b> Overall, the study revealed a need for training in risk communication and clinical recommendations for persons at risk. One-third of respondents communicated only relative disease risks (31.5%) instead of absolute disease risks in manageable time spans. Moreover, almost one-third of the respondents (31.2%) communicated bilateral and contralateral risk-reducing mastectomy as an option for healthy women and unilateral-diseased breast cancer patients without mutations in high-risk genes (e.g. <i>BRCA1</i> or <i>BRCA2)</i>. Most respondents expressed training needs in the field of risk assessment models, the clinical interpretation of genetic test results, and the decision-making process. <b><i>Conclusion:</i></b> The survey demonstrates a gap of genetic and risk literacy in a relevant proportion of physicians and the need for appropriate training concepts.

scholarly journals Breast Thermograms Asymmetry Analysis using Gabor filters

2021 ◽  
Vol 309 ◽  
pp. 01109
Author(s):  
Priyanka Yadlapalli ◽  
Madhavi K Reddy ◽  
Sunitha Gurram ◽  
J Avanija ◽  
K Meenakshi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Stage ◽  
Cost Effective ◽  
Gabor Filters ◽  
Support Vector ◽  
Svm Classifier ◽  
Infrared Thermal Imaging ◽  
Younger Women ◽  
Early Diagnosis Of Cancer ◽  
Diagnosis Of Cancer

Women are far more likely than males to acquire breast cancer, and current research indicates that this is entirely avoidable. It is also to blame for higher death rates among younger women compared to older women in nearly all developing nations. Medical imaging modalities are continuously in need of development. A variety of medical techniques have been employed to detect breast cancer in women. The most recent studies support mammography for breast cancer screening, although its sensitivity and specificity remain suboptimal, particularly in individuals with thick breast tissue, such as young women. As a result, alternative modalities, such as thermography, are required. Digital Infrared Thermal Imaging (DITI), as it is known, detects and records temperature changes on the skin’s surface. Thermography is well-known for its non-invasive, painless, cost-effective, and high recovery rates, as well as its potential to identify breast cancer at an early stage. Gabor filters are used to extract the textural characteristics of the left and right breasts. Using a support vector machine, the thermograms are then classified as normal or malignant based on textural asymmetry between the breasts (SVM). The accuracy achieved by combining Gabor features with an SVM classifier is around 84.5 percent. The early diagnosis of cancer with thermography enhances the patient’s chances of survival significantly since it may detect the disease in its early stages.

scholarly journals Early Discontinuation and Nonadherence to Adjuvant Hormonal Therapy in a Cohort of 8,769 Early-Stage Breast Cancer Patients

2010 ◽  
Vol 28 (27) ◽  
pp. 4120-4128 ◽  
Author(s):  
Dawn L. Hershman ◽  
Lawrence H. Kushi ◽  
Theresa Shao ◽  
Donna Buono ◽  
Aaron Kershenbaum ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hormonal Therapy ◽  
Early Stage ◽  
Optimal Schedule ◽  
Medication Possession Ratio ◽  
Adjuvant Hormonal Therapy ◽  
Breast Cancer Patients ◽  
Early Discontinuation ◽  
Younger Women ◽  
Hormone Sensitive

Purpose While studies have found that adjuvant hormonal therapy for hormone-sensitive breast cancer (BC) dramatically reduces recurrence and mortality, adherence to medications is suboptimal. We investigated the rates and predictors of early discontinuation and nonadherence to hormonal therapy in patients enrolled in Kaiser Permanente of Northern California health system. Patients and Methods We identified women diagnosed with hormone-sensitive stage I-III BC from 1996 to 2007 and used automated pharmacy records to identify hormonal therapy prescriptions and dates of refill. We used Cox proportional hazards regression models to analyze factors associated with early discontinuation and nonadherence (medication possession ratio < 80%) of hormonal therapy. Results We identified 8,769 patients with BC who met our eligibility criteria and who filled at least one prescription for tamoxifen (43%), aromatase inhibitors (26%), or both (30%) within 1 year of diagnosis. Younger or older age, lumpectomy (v mastectomy), and comorbidities were associated with earlier discontinuation, while Asian race, being married, earlier year at diagnosis, receipt of chemotherapy or radiotherapy, and longer prescription refill interval were associated with completion of 4.5 years of therapy. Of those who continued therapy, similar factors were associated with full adherence. Women age younger than 40 years had the highest risk of discontinuation (hazard ratio, 1.51; 95% CI, 1.23 to 1.85). By 4.5 years, 32% discontinued therapy, and of those who continued, 72% were fully adherent. Conclusion Only 49% of patients with BC took adjuvant hormonal therapy for the full duration at the optimal schedule. Younger women are at high risk of nonadherence. Interventions to improve adherence and continuation of hormonal therapy are needed, especially for younger women.

When is a prognostic factor useful? A guide for the perplexed.

1991 ◽  
Vol 9 (2) ◽  
pp. 348-356 ◽  
Author(s):  
M N Levine ◽  
G P Browman ◽  
M Gent ◽  
R Roberts ◽  
M Goodyear
Keyword(s):  
Breast Cancer ◽  
Nuclear Dna ◽  
Early Stage ◽  
Cancer Recurrence ◽  
Nuclear Dna Content ◽  
Predictive Ability ◽  
Threshold Value ◽  
Prognostic Test ◽  
Risk Patients

Traditionally, a number of variables have been used to predict outcome in patients with early-stage breast cancer. These tests are simple to perform and relatively inexpensive. Recently, a number of new factors, eg, tumor proliferative index, nuclear DNA content, and amplification or overexpression of growth-promoting genes or oncogenes have been identified as potential predictors of outcome in patients with breast cancer. There is now increasing pressure to introduce such tests into routine clinical practice. How does a clinical practitioner identify which test, or group of tests, best predicts adverse outcome and whether any more clinically useful information is provided than with the use of more traditional factors alone? The aim of a prognostic test in breast cancer is to predict which patients are destined to develop a recurrence of cancer and those who are not. The prognostic usefulness of a test can be expressed in terms of relative risk (RR), which is the ratio of the risk of breast cancer recurrence in patients who test positive to the risk in those who test negative. Methodologic guidelines that should be satisfied by a study evaluating the predictive ability of a test include the following: (1) Was an inception cohort assembled? (2) Was the referral pattern described? (3) Were laboratory and clinical outcomes assessed in a blinded fashion? (4) Was complete follow-up achieved? (5) Was adjustment for extraneous prognostic factors carried out? (6) Were appropriate statistical methods used? An approach is suggested to help the clinician choose the test, or combination of tests, likely to discriminate between "high-" and "low-risk" patients in his/her own practice. The decision regarding what particular threshold value (risk) defined by a prognostic test (or series of tests) warrants adjuvant therapy for an individual patient is a complex one but should be based on a clear presentation of the risks and benefits to the patient.

Recurrence rates in patients with uterine papillary serous cancer with and without breast cancer.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. e16529-e16529
Author(s):  
Jessica E. Stine ◽  
Stuart Pierce ◽  
Paola A. Gehrig ◽  
John Nakayama ◽  
Laura Jean Havrilesky ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Recurrence Rate ◽  
Late Stage ◽  
Early Stage ◽  
Disease Stage ◽  
Serous Carcinoma ◽  
Recurrence Rates ◽  
Increased Risk ◽  
Risk Patients ◽  
Papillary Serous Carcinoma

e16529 Background: Women with uterine papillary serous carcinoma (UPSC) are at increased risk for breast cancer and the converse is true. A genetic association between breast cancer and UPSC was recently described and counseling women faced with more than one cancer diagnosis can be difficult. Our objective was to evaluate recurrence rates of women with UPSC to those with UPSC and a personal history of breast cancer (UPSCBR). Methods: Data was collected for UPSCBR patients at two academic institutions between 7/1990 and 7/2012. Patient demographics, pathology, disease stage, and treatments were recorded. A UPSC literature review was performed focusing on recurrences per number of at-risk patients by stage. We used the fixed effect Mantel-Haenszel method to estimate the common pooled effect (recurrence rate) for the UPSC studies and compared these to UPSCBR patients. Results: Forty-three UPSCBR patients were identified. Median age at diagnosis was 72 (49-93). Twenty-six patients were Caucasian, 14 African-American and 3 other. Twenty-four (56%) had early stage at diagnosis (IA-IC) and 19 (44%) had late stage (III-IV). All but one underwent surgical staging/debulking; 36 (90%) were optimally debulked. Twelve (50%) early stage and 17 (89.5%) late stage patients underwent adjuvant therapy with radiation and/or chemotherapy. Nine studies were identified with available recurrence data for early stage UPSC; 8 for late stage. The recurrence rate for stage IA UPSCBR patients was 2/11 (18%) [95% CI: 2 to 52%] compared to 11% [95% CI: 9.8 to 13%] in the UPSC literature. In IB/IC UPSCBR patients we had 3/13 (23%) [95% CI: 5 to 54%] recur versus 21% [95% CI: 19 to 23%]. In later stages III/IV, 7/19 (37%) [95% CI:16 to 62%] UPSCBR patients had recurrences compared to 58% [95% CI: 56 to 60%] of UPSC patients. Conclusions: There is an association between breast cancer and UPSC with regard to incidence. We failed to find evidence of an appreciable difference in recurrence rates between our UPSCBR patients and UPSC patient groups from other reported studies. While diagnosis with two primary malignancies can be challenging for patients, this does not appear to impact their risk of recurrence.

Association between Oncotype DX and receipt of chemotherapy in early-stage breast cancer within the Medicare population from 2004 to 2007.

2014 ◽  
Vol 32 (30_suppl) ◽  
pp. 309-309
Author(s):  
Michaela Ann Dinan ◽  
Xiaojuan Mi ◽  
Shelby D. Reed ◽  
Gary H. Lyman ◽  
Lesley H Curtis
Keyword(s):  
Breast Cancer ◽  
Early Stage ◽  
Oncotype Dx ◽  
Medicare Beneficiaries ◽  
Nccn Guidelines ◽  
Pathologic Features ◽  
Er Positive ◽  
Risk Patients ◽  
Nationally Representative ◽  
Positive Breast Cancer

309 Background: In 2004, the Oncotype DX (ODX) multigene assay became available to help guide physicians in their decision to recommend adjuvant chemotherapy in patients with early stage estrogen receptor (ER) positive breast cancer. ODX utilization within a non-academic, nationally representative breast cancer population has not been previously examined. Methods: Retrospective analysis of Surveillance, Epidemiology, and End Results (SEER)-Medicare data of the association between ODX testing and receipt of chemotherapy in patients diagnosed with invasive, non-metastatic, ER-positive breast cancer between 2004 and 2007. Results: A total of 28,760 Medicare beneficiaries met study criteria. NCCN guidelines were used to stratify patients on the basis of clinical and pathologic features into low (<1 cm tumors, 24.4%), intermediate (≥ 1 cm tumors, 52.0%), and high (node positive, 23.7%) risk disease. In patients with low or intermediate risk disease, receipt of ODX was associated with increased chemotherapy utilization (13% vs. 1% and 19% vs. 8%, respectively; both P < 0.001), but not in high risk patients (30% vs. 39%, P= 0.34). Conclusions: Randomized trials have previously suggested the ability of ODX to decrease chemotherapy utilization. In this study, we observed increased chemotherapy utilization associated with receipt of ODX in patients with low and intermediate NCCN risk disease. Association between ODX and chemotherapy utilization in observational studies may be impacted by preferential administration of ODX testing to patients being considered for chemotherapy. [Table: see text]

Knowledge outcomes in a randomized trial of telephone vs. in-person disclosure of genetic testing: The COGENT study.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1534-1534
Author(s):  
Nina Beri ◽  
Linda J. Patrick-Miller ◽  
Brian L. Egleston ◽  
Olufunmilayo I. Olopade ◽  
Michael J. Hall ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Randomized Trial ◽  
Genetic Knowledge ◽  
True Negative ◽  
Variant Of Uncertain Significance ◽  
Knowledge Change ◽  
Negative Results ◽  
Genetic Test Results ◽  
Uncertain Significance ◽  
Multivariable Analyses

1534 Background: Telephone disclosure (TD) of genetic testing is non-inferior to in-person disclosure (IPD) for most outcomes but did not meet non-inferiority for knowledge change. We sought to understand which concepts patients don’t understand and factors associated with lower knowledge. Methods: Patients were recruited to a multi-center, randomized trial (NCT01736345) comparing TD to IPD of genetic test results. 819 patients were randomized (IPD = 418; TD = 401); 165 declined randomization and requested IPD. Knowledge was assessed after pre-test counseling (V1) and test disclosure (V2). Results: There were no significant differences in genetic or multi-gene (MG) knowledge between disclosure groups after V1 and V2. On average, patients answered 73% (SD 1.19) of genetic knowledge and 57% (SD 1.78) of mg knowledge items correctly.After V1, most understood implications of a positive result (87%), that results are not deterministic (84%) and risks for their children (91%). Understanding of uninformative negative, true negative and variant of uncertain significance (VUS) results was lower (post-V1: 33%, 65%, 29%; post-V2 : 37%, 65%, 25%). In multivariable analyses, lower genetic knowledge after V1 was associated with study site, being older (p < 0.01), single (p < 0.01), non-white (p < 0.01), not Ashkenazi Jewish (p = 0.01), and not having a mutation in the family (p = 0.03), having more relatives with cancer (p < 0.01) and not graduating college (p < 0.01). Lower mg knowledge after V1 was associated with site and being non-white (p = 0.01). Lower genetic knowledge after V2 was not associated with disclosure method but associated with study site, being older (p < 0.01), not graduating college (p < 0.01) and being non-white (p < 0.01). Lower mg knowledge after V2 was only associated with not graduating college (p = 0.02). Conclusions: While there were no significant differences in genetic knowledge by disclosure method, understanding of several concepts (e.g. VUS and negative results) were lower regardless of arm. Several factors, including age, education and race/ethnicity were associated with lower knowledge. Interventions to improve genetic knowledge in real-world and diverse populations are needed. Clinical trial information: NCT07136345.

Role of the CDKN2A Locus in Patients With Multiple Primary Melanomas

2005 ◽  
Vol 23 (13) ◽  
pp. 3043-3051 ◽  
Author(s):  
Susana Puig ◽  
Josep Malvehy ◽  
Cèlia Badenas ◽  
Anna Ruiz ◽  
Dolores Jimenez ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Case Series ◽  
Primary Melanoma ◽  
Phenotypic Characterization ◽  
Exon 2 ◽  
Variant Of Uncertain Significance ◽  
Multiple Primary ◽  
Uncertain Significance ◽  
Risk Patients ◽  
Total Body

Purpose We have studied a consecutive case series of patients with multiple primary melanoma (MPM) for the involvement of the melanoma susceptibility loci CDKN2A and CDK4. Patients and Methods One hundred four MPM patients (81 patients with two primary melanomas, 14 with three, five with four, one with five, two with six, and one with seven) were included. Results Seven different CDKN2A germline mutations were identified in 17 patients (16.3%). In total, we identified 15 CDKN2A exon 2, one exon 1α missense mutation, and one exon 1β frameshift mutation. The age of onset was significantly lower and the number of primary melanomas higher in patients with mutations. CDKN2A mutations were more frequent in patients with familial history of melanoma (35.5%) compared with patients without (8.2%), with a relative risk (RR) of 4.32 (95% CI, 1.76 to 10.64; P = .001), and in patients with more than two melanomas (39.1%) compared with patients with only two melanomas (10%) with an RR of 3.29 (95% CI, 1.7 to 6.3; P = .002). The A148T polymorphism was more frequent in patients with MPMs than in the control population (P = .05). A variant of uncertain significance, A127S, was also detected in one patient. No CDK4 mutations were identified, suggesting that it has a low impact in susceptibility to MPM. Conclusion MPM patients are good candidates for CDKN2A mutational screening. These patients and some of their siblings should be included in a program of specific follow-up with total body photography and digital dermoscopy, which will result in the early detection of melanoma in this subset of high-risk patients and improve phenotypic characterization.

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