The Pink Underside: The Commercialization of Medical Risk Assessment and Decision-Making Tools for Hereditary Breast Cancer Risk

2018 ◽  
Vol 28 (10) ◽  
pp. 1523-1538 ◽  
Author(s):  
Sharlene Hesse-Biber ◽  
Bailey Flynn ◽  
Keeva Farrelly
Keyword(s):  
Breast Cancer ◽  
Risk Assessment ◽  
Decision Making ◽  
Nonprofit Organizations ◽  
Assessment Tools ◽  
Cancer Genes ◽  
Health Care Information ◽  
Brca1 And Brca2 ◽  
Medical Risk ◽  
Online Risk

The growth of the Internet since the millennium has opened up a myriad of opportunities for education, particularly in medicine. Although those looking for health care information used to have to turn to a face-to-face doctor’s visit, an immense library of medical advice is now available at their fingertips. The BRCA genetic predispositions (mutations of the BRCA1 and BRCA2 breast cancer genes) which expose men and women to greater risk of breast, ovarian, and other cancers can be researched extensively online. Several nonprofit organizations now offer online risk assessment and decision-making tools meant to supplement conversation with medical professionals, which in actuality are quickly replacing it. We argue here through a critical qualitative template analysis of several such tools that the discursive frameworks utilized are prone to fearmongering, commercialization, and questionable validity. Left unchecked, these assessment tools could do more harm than good in driving young women especially to take unnecessary extreme surgical action.

scholarly journals Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yun Liu ◽  
Honglian Wang ◽  
Xin Wang ◽  
Jiaqi Liu ◽  
Junjian Li ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Assessment ◽  
Chinese Population ◽  
Functional Assay ◽  
Healthy Controls ◽  
Brca1 And Brca2 ◽  
Chinese Han ◽  
Pathogenic Variants ◽  
Breast Cancer Cohort ◽  
Invasive Carcinomas

AbstractAccurate interpretation of BRCA1/2 variants is critical for risk assessment and precise treatment of breast cancer (BC). Hence, the establishment of an ethnicity-based BRCA1/2 variant database of the Chinese population is of paramount importance. In this study, panel-based sequencing served to detect BRCA1/2 variants in a Chinese multicenter cohort of 21,216 BC patients and 6434 healthy controls. Overall, the percentage of subjects carrying pathogenic variants was 5.5% (1174/21,216) in BC patients and 1.1% (71/6434) in healthy controls. We identified 13 pathogenic variants as high-frequency variants that had a frequency of > 0.45‰ in BC patients (≥ 10 in 21,216 patients), none of which has been reported in Caucasians. Pathogenic BRCA1/2 variants correlated with younger onset age, higher frequencies of bilateral and triple-negative BC (TNBC), invasive carcinomas, high histological grades, and family history of BC and other cancers. Furthermore, the percentage of the subjects carrying VUS was 9.8% (2071/21,216) in BC patients and 6.9% (446/6434) in healthy controls. Based on our cohort study, we unambiguously reclassified 7 out of the 858 VUS resulting in lower VUS ratio in patients (from 9.8 to 7.9%) as well as in healthy control (from 6.9 to 5.3%). We also re-analyzed the 100 variants in 13 exons (2–5 and 15–23) of the BRCA1 genes using a functional assay (saturation genome editing; SGE). 55 of the 59 VUS had distinct status in the SGE study: 24 (43.6%) were pathogenic, and 31 (56.4%) were benign. Strong ethnicity-specific occurrences of pathogenic BRCA1/2 variants were identified in the Chinese population. Hence, the findings provide rationale and sequencing information for the implementation of BRCA1/2 variants tailored to the Chinese population into clinical risk assessment.

Assessing breast cancer risk in primary care: What can we learn from cardiovascular disease?

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 1559-1559
Author(s):  
Kelly-Anne Phillips ◽  
Louise A. Keogh ◽  
Emma Steel ◽  
Ian M. Collins ◽  
Jon Emery ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Assessment ◽  
Primary Care ◽  
Median Number ◽  
Assessment Tools ◽  
Management Options ◽  
Online Tool ◽  
Practice Nurses ◽  
Primary Care Clinicians ◽  
Cv Disease

1559 Background: Routine assessment of breast cancer (BC) risk by primary care clinicians (PCCs) might improve uptake of BC prevention and screening interventions, thus reducing morbidity and mortality as has occurred for cardiovascular (CV) disease. Methods: Australian PCCs were recruited through local professional networks. Facilitated focus group discussions about current practice of assessing and managing BC risk were audiotaped, transcribed verbatim and managed using QSR NVivo qualitative data management software. A coding framework was developed based on the transcripts, data were coded and each code further analyzed to identify key themes. Results: 17 PCCs (12 doctors, 5 practice nurses) participated in 2 focus groups. 41% were male, median age 49 years, median number of years in practice was 15. Approaches to assessment and management of BC risk differed markedly from that of CV risk. PCCs see assessment and management of CV risk as an intrinsic, expected part of their role. Practice software prompts trigger CV risk assessment and PCCs often use an online tool (www.knowyournumbers.co.nz) to provide personalized risk estimates and to discuss management options for CV risk. Conversely, assessment of BC risk is not routine or prompted by practice software, is generally patient (not clinician) initiated, and management, beyond routine BC screening (e.g. chemoprevention), is considered outside the PCCs domain. Most PCCs are not familiar with, or using, BC risk assessment tools. PCCs suggested they could potentially routinely assess and manage BC risk. Such an approach would need to be widely endorsed as within the remit of primary care and would be enhanced by an online tool that is accessible, quick, visual (graphs and pictograms), evidence-based and regularly updated. Ideally, its use would be prompted by their practice software. Conclusions: There is a clear opportunity in primary care to enhance the capacity and motivation of clinicians to assess and manage BC risk. A risk assessment and decision aid tool, integrated into primary care software, might facilitate routine appropriate management of BC risk in the Australian primary care setting, modelling what has already been achieved for CV disease.

scholarly journals Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

2011 ◽  
Vol 32 (3) ◽  
pp. 335-344 ◽  
Author(s):  
Kim De Leeneer ◽  
Jan Hellemans ◽  
Joachim De Schrijver ◽  
Machteld Baetens ◽  
Bruce Poppe ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Amplicon Sequencing ◽  
Cancer Genes ◽  
Brca1 And Brca2 ◽  
Breast Cancer Genes

scholarly journals Dermatoglyphy in Breast Cancer Patients: A Systematic Review

2021 ◽  
Vol 5 (11) ◽  
pp. 1014-1029
Author(s):  
Rara Inggarsih ◽  
Akhyar Dyni Zakyah ◽  
Lusia Hayati ◽  
Joko Marwoto ◽  
Septi Purnamasari ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Systematic Review ◽  
Cancer Patients ◽  
Breast Development ◽  
Control Group ◽  
Cancer Genes ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
History Of

Background. Breast cancer is one of the four types of cancer among women and is the most frequently diagnosed in most countries. Breast cancer occurs due to DNA damage and genetic mutations affected by exposure to estrogen, inheritance of damaged DNA, or pro-cancer genes such as BRCA1 and BRCA2. Therefore, a family history of ovarian cancer or breast cancer increases the risk of developing breast cancer. The embryo of the breast develops around the age of 6 weeks of pregnancy. Similar to breast development, fingerprint patterns also develop during the 6-13 weeks of pregnancy. Thus, the genetic message contained in the genome occurred during that period and was reflected in the dermatoglyphic pattern.Methods. The literature search was systematically used using PubMed, Cochran, Google scholar, and other Gray literature between 2010-2020. Of the 69 publications identified, 21 met the criteria and were included in the review. The review is carried out following the provisions of PRISMA (Preferred Reporting Items for Systematic Review).Results. This systematic review showed fairly consistent findings in breast cancer patients who tended to have more whorl fingerprint patterns and larger ATD angles. For radial loops, ulnar loops and arches were minor compared to the control group potential as an initial screening tool in at-risk groups.Conclusion. Long-term and follow-up studies with larger sample sizes in various ethnicities are needed to validate dermatoglyphics in anthropometric measurements as a promising marker of breast cancer.

scholarly journals Risk assessment for hereditary breast cancer: BRCA1 and BRCA2

2010 ◽  
Vol 20 (3) ◽  
pp. 107-110 ◽  
Author(s):  
Kendra-Ann I. Seenandan-Sookdeo ◽  
Jo-Ann V. Sawatzky
Keyword(s):  
Breast Cancer ◽  
Risk Assessment ◽  
Hereditary Breast Cancer ◽  
Brca1 And Brca2

Breast Cancer Risk Reduction and Counseling: Lifestyle, Chemoprevention, and Surgery

2007 ◽  
Vol 5 (8) ◽  
pp. 800-808 ◽  
Author(s):  
Martin C. Mahoney
Keyword(s):  
Breast Cancer ◽  
Risk Assessment ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Risk Reduction ◽  
Assessment Tools ◽  
Surgical Approaches ◽  
Increased Risk ◽  
Breast Cancer Risk Reduction ◽  
Cancer Risk Reduction

Qualitative and quantitative approaches to risk assessment are useful for identifying women at increased risk for developing breast cancer for whom genetics consultation, individualized surveillance recommendations, or chemoprevention may be appropriate. A comprehensive medical and family history review can be used to stratify women into categories of breast cancer risk. A quantitative estimate of the probability of developing breast cancer can be determined using risk assessment tools, such as the Gail and Claus models. Women at increased risk for breast cancer may benefit from individualized approaches to breast cancer risk reduction. Prevention strategies for reducing breast cancer risk include lifestyle modifications, chemoprevention, surgical approaches, and pharmacotherapy.

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