scholarly journals Patients with pathogenic variants for breast cancer other than BRCA1 and BRCA2: qualitative interviews about health care experiences

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Kristin E. Clift ◽  
Sarah K. Macklin ◽  
Stephanie L. Hines
Keyword(s):  
Breast Cancer ◽  
Health Care ◽  
Hereditary Cancer ◽  
Qualitative Interviews ◽  
Clinical Effects ◽  
Test Results ◽  
Cancer Genes ◽  
Care Providers ◽  
Pathogenic Variants ◽  
Health Care Experiences

Abstract Background Genetic testing for hereditary cancer syndromes has been revolutionized by next-generation sequencing, which allows for simultaneous review of numerous genes. Multigene panels are regularly offered to patients because of their scope and decreased cost and turnaround time. However, many genes included on larger panels have not been studied as extensively as BRCA1 and BRCA2 (BRCA1/2), and their clinical effects are often not as well established. Methods We identified patients who received positive test results for pathogenic variants of breast cancer genes from January 2012 through May 2018. We mailed a survey and conducted qualitative interviews to explore the personal and health care experiences of patients with pathogenic variants of BRCA1/2 and patients with “other” (ie, non-BRCA1/2 or PALB2; PTEN; ATM; TP53; NBM, RAD51C; MSH6) variants. We compared the experiences of these patients. Results Fifty-nine out of 128 individuals responded to the survey (46%). Thirty-two patients had BRCA1/2 variants, and 27 had other variants. (49 women and 10 men; median [range] age, 63 [34–87] years). We interviewed 21 patients (17 women and 4 men; median [range] age, 59.6 [34–82] years). Of the interview participants, ten patients had BRCA1/2 variants, and 11 had non-BRCA1/2 variants. Patients reported receiving poor information about their genetic test results, and they often educated their physicians about their results. Some patients believed that they had been ignored or “brushed off” by health care professionals because non-BRCA1/2 genes are less understood outside the genetics research community. Patients with BRCA1/2 variants had similar problems with health care providers, despite increased awareness and established guidelines about BRCA1/2. Conclusions Research is required to understand the clinical significance and proper management of diseases attributable to newly characterized hereditary cancer genes. Additional evaluation of patient and provider education should be at the forefront of efforts to improve patient care.

Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes

2019 ◽  
pp. 1-8
Author(s):  
Emily W. Moody ◽  
Jennie Vagher ◽  
Whitney Espinel ◽  
David Goldgar ◽  
Kelsi J. Hagerty ◽  
...  
Keyword(s):  
Health Care Providers ◽  
Hereditary Cancer ◽  
Clinical Test ◽  
Variant Interpretation ◽  
Test Results ◽  
Cancer Genes ◽  
Care Providers ◽  
Pathogenic Variants ◽  
Uncertain Significance ◽  
Brca1 Brca2

PURPOSE To compare the classification of genetic variants reported on tumor genomic profiling (TGP) reports with germline classifications on clinical test results and ClinVar. Results will help to inform germline testing discussions and decisions in patients with tumor variants in genes that are relevant to hereditary cancer risk. PATIENTS AND METHODS This study compared somatic and germline classifications of small nucleotide variants in the following genes: BRCA1, BRCA2, CHEK2, PALB2, ATM, MLH1, MSH2, MSH6, and PMS2. Somatic classifications were taken from reports from a single commercial TGP laboratory of tests ordered by providers at Huntsman Cancer Institute between March 2014 and June 2018. Somatic variant interpretations were compared with classifications from germline test results as well as with ClinVar interpretations. RESULTS Of the 623 variants identified on TGP, 353 had a definitive classification in ClinVar, and 103 were assayed with a germline test, with 66 of the variants tested observed in germline. Analysis of somatic variants of uncertain significance listed on TGP reports determined that 22% had a different interpretation compared with ClinVar and that 32% differed from the interpretation on a germline test result. Pathogenic variants on TGP test results were found to differ 13% and 5% of the time compared with ClinVar interpretations and germline test results, respectively. CONCLUSION These results suggest that TGP variants are often classified differently in a germline context. Differences may be due to different processes in variant interpretation between somatic and germline laboratories. These results are important for health care providers to consider when making decisions about additional testing for hereditary cancer risks.

scholarly journals Perspectives of Survivorship Care Plans Among Older Breast Cancer Survivors: A Pilot Study

2020 ◽  
Vol 27 (1) ◽  
pp. 107327482091720
Author(s):  
Jessica L. Krok-Schoen ◽  
Michelle J. Naughton ◽  
Anne M. Noonan ◽  
Janell Pisegna ◽  
Jennifer DeSalvo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Health Care ◽  
Pilot Study ◽  
Focus Groups ◽  
Cancer Survivors ◽  
Breast Cancer Survivors ◽  
Survivorship Care Plan ◽  
Survivorship Care ◽  
Care Providers ◽  
Term Care

The Commission on Cancer’s standard 3.3 represents a paradigm shift in the care of cancer survivors, recommending that survivors receive a treatment summary and survivorship care plan (SCPs). A focus on older breast cancer survivors is needed, as they are the majority of the breast cancer population and their experiences and perspectives of SCPs is limited in the literature. This pilot study utilized a mixed methods approach (focus groups and self-report questionnaire data) to gather information on older (≥65 years) breast cancer survivors’ perspectives of their SCPs, cancer survivorship, and communication with their health-care providers. The questionnaire was completed individually by the participants prior to the focus group and contained items on basic demographics and their health status following cancer treatment. The focus groups indicated that only a minority of women actually developed a SCP. Those who developed a SCP in collaboration with their providers valued the personal care and attention received. However, some participants reported poor communication with their providers and within their health-care team, resulting in frustration and confusion. Participants’ suggestions for ideal SCPs included better education and personalization, particularly in appropriate nutrition and exercise, and managing side effects and comorbidities. Lastly, the women believed that additional long-term care resources, such as health coaches, were important in improving their survivorship. These findings provide insight into enhancing the content, communication, and application of SCPs to improve the survivorship experience of older breast cancer survivors.

scholarly journals High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

2021 ◽  
pp. jmedgenet-2020-107347
Author(s):  
D Gareth Evans ◽  
Elke Maria van Veen ◽  
Helen J Byers ◽  
Sarah J Evans ◽  
George J Burghel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Early Onset ◽  
Ductal Carcinoma ◽  
Cancer Genes ◽  
Early Onset Breast Cancer ◽  
Younger Women ◽  
Pathogenic Variants ◽  
Younger Age ◽  
Predisposition Genes

BackgroundWhile the likelihood of identifying constitutional breast cancer-associated BRCA1, BRCA2 and TP53 pathogenic variants (PVs) increases with earlier diagnosis age, little is known about the correlation with age at diagnosis in other predisposition genes. Here, we assessed the contribution of known breast cancer-associated genes to very early onset disease.MethodsSequencing of BRCA1, BRCA2, TP53 and CHEK2 c.1100delC was undertaken in women with breast cancer diagnosed ≤30 years. Those testing negative were screened for PVs in a minimum of eight additional breast cancer-associated genes. Rates of PVs were compared with cases ≤30 years from the Prospective study of Outcomes in Sporadic vs Hereditary breast cancer (POSH) study.ResultsTesting 379 women with breast cancer aged ≤30 years identified 75 PVs (19.7%) in BRCA1, 35 (9.2%) in BRCA2, 22 (5.8%) in TP53 and 2 (0.5%) CHEK2 c.1100delC. Extended screening of 184 PV negative women only identified eight additional actionable PVs. BRCA1/2 PVs were more common in women aged 26–30 years than in younger women (p=0.0083) although the younger age group had rates more similar to those in the POSH cohort. Out of 26 women with ductal carcinoma in situ (DCIS) alone, most were high-grade and 11/26 (42.3%) had a PV (TP53=6, BRCA2=2, BRCA1=2, PALB2=1). This PV yield is similar to the 61 (48.8%) BRCA1/2 PVs identified in 125 women with triple-negative breast cancer. The POSH cohort specifically excluded pure DCIS which may explain lower TP53 PV rates in this group (1.7%).ConclusionThe rates of BRCA1, BRCA2 and TP53 PVs are high in very early onset breast cancer, with limited benefit from testing of additional breast cancer-associated genes.

scholarly journals Queering whole person care in a pandemic

2022 ◽  
Vol 9 (1) ◽  
pp. 56-57
Author(s):  
Jane Shulman ◽  
David Kenneth Wright
Keyword(s):  
Health Care ◽  
Health Care Providers ◽  
Care Providers ◽  
The Past ◽  
Health Care Experiences ◽  
The People ◽  
Whole Person ◽  
Care Approach ◽  
The Face ◽  
Nursing Educator

How can health care providers (HCPs) working with 2SLGBTQ+ patients enact a whole person care approach during the SARS-CoV-2 pandemic and its aftermath, and in such desperate times, is it even reasonable to expect them to? In this presentation, a nurse/nursing educator and a health care researcher/frequent patient discuss their observations and experiences of whole person care during the SARS-CoV-2 pandemic. The conversation highlights that in the immediate chaos early on, and in the face of exhaustion, trauma, and burnout as the pandemic progressed, attending to the whole personhood of patients was/is paramount for HCPs and for the people they treat. The presenters reflect on the amplified significance of a whole person approach for 2SLGBTQ+ people who may have had negative health care experiences in the past, and may fear that they will not receive equitable care in the chaotic context of a pandemic. A whole person care approach is perhaps most necessary when it is also most difficult. In a period of such profound distress, a deeper sense of connectedness to patients may help HCPs manage feelings of helplessness they are likely to encounter, and surely helps the people they treat. The goal of this presentation is to begin a discussion about the ways that whole person approaches benefit 2SLGBTQ+ patients as well as their HCPs, with the hope that it will spark ideas for attendees to develop in their own practices.

scholarly journals A scalable EHR-based approach for phenotype discovery and variant interpretation for hereditary cancer genes

2021 ◽  
Author(s):  
Chenjie Zeng ◽  
Lisa A Bastarache ◽  
Ran Tao ◽  
Eric Venner ◽  
Scott Hebbring ◽  
...  
Keyword(s):  
Hereditary Cancer ◽  
Meta Analysis ◽  
Genetic Disorders ◽  
Genomic Medicine ◽  
Risk Scores ◽  
Cancer Genes ◽  
Pathogenic Variants ◽  
Emerge Network ◽  
Uncertain Significance ◽  
Potential Pathogenicity

Knowledge of the clinical spectrum of rare genetic disorders helps in disease management and variant pathogenicity interpretation. Leveraging electronic health record (EHR)-linked genetic testing data from the eMERGE network, we determined the associations between a set of 23 hereditary cancer genes and 3017 phenotypes in 23544 individuals. This phenome-wide association study replicated 45% (184/406) of known gene-phenotype associations (P = 5.1 ×10-125). Meta-analysis with an independent EHR-derived cohort of 3242 patients confirmed 14 novel associations with phenotypes in the neoplastic, genitourinary, digestive, congenital, metabolic, mental and neurologic categories. Phenotype risk scores (PheRS) based on weighted aggregations of EHR phenotypes accurately predicted variant pathogenicity for at least 50% of pathogenic variants for 8/23 genes. We generated a catalog of PheRS for 7800 variants, including 5217 variants of uncertain significance, to provide empirical evidence of potential pathogenicity. This study highlights the potential of EHR data in genomic medicine.

scholarly journals FAKTOR YANG BERHUBUNGAN DENGAN PERILAKU IBU RUMAH TANGGA MELAKUKAN PEMERIKSAAN PAYUDARA SENDIRI (SADARI)

2018 ◽  
Vol 12 (2) ◽  
pp. 143
Author(s):  
Alvita Brilliana R. Arafah ◽  
Hari Basuki Notobroto
Keyword(s):  
Breast Cancer ◽  
Health Care ◽  
Health Care Providers ◽  
Early Stage ◽  
Health Providers ◽  
Care Providers ◽  
Cross Sectional ◽  
Information Accessibility ◽  
Breast Examination ◽  
Access Information

Breast cancer is cancer with the number of new cases and deaths highest in Indonesia. According to the Data Center and Information Ministry of a health Indonesia in the year 2013, the number of new cases of breast cancer of 819 and the number of deaths amounted to 217. In general, breast cancer known after stepping on an advanced stage. So the methods of early detection of breast cancer are focused on the detection of early stage tumors that are usually small with self-breast examination (SADARI). The purpose of this research is to predict the factors related to the behavior of self-breast examination (SADARI) the housewives aged 40–50 years. This research is an observational study with cross sectional approach. Sample research totaling 100 people  housewife in Kelurahan Sidotopo Wetan Kenjeran Subdistrict Surabaya. The measurement was done by providing a questionnaire to obtain information about the research variables. Variable independent research is k nowledge, attitudes, information accessibility, support health providers and descent with breast cancer. The results of this research showed the variables that are associated with the  SADARI behavior of the housewifes is attitude (p = 0.000), accessibility of information (p = 0.000), and health care providers support (p = 0.010). The majority of housewives in Kelurahan Sidotopo Wetan Kenjeran Sub-district Surabaya showed a good attitude and support toward SADARI. In the area surrounding the residence h ousewife get access information easily. There are no support for doing SADARI from health care providers.

Sign in / Sign up

Export Citation Format

Share Document