scholarly journals Exploring Implementation of Personal Breast Cancer Risk Assessments

2021 ◽  
Vol 11 (10) ◽  
pp. 992
Author(s):  
Maria A. Sierra ◽  
Jack C. W. Wheeler ◽  
Lisa Devereux ◽  
Alison H. Trainer ◽  
Louise Keogh
Keyword(s):  
Breast Cancer ◽  
Cancer Risk ◽  
Risk Assessments ◽  
Prophylactic Surgery ◽  
Group Discussions ◽  
Social Good ◽  
Potential Barriers ◽  
Pathogenic Variants ◽  
Optimal Population ◽  
Ease Of Access

Personal Breast Cancer (BC) Risk Assessments (PBCRA) have potential to stratify women into clinically-actionable BC risk categories. As this could involve population-wide genomic testing, women’s attitudes to PBCRA and views on acceptable implementation platforms must be considered to ensure optimal population participation. We explored these issues with 31 women with different BC risk profiles through semi-structured focus group discussions or interviews. Inductive thematic coding of transcripts was performed. Subsequently, women listed factors that would impact on their decision to participate. Participants’ attitudes to PBCRA were positive. Identified themes included that PBCRA acceptance hinges on result actionability. Women value the ability to inform decision-making. Participants reported anxiety, stress, and genetic discrimination as potential barriers. The age at which PBCRA was offered, ease of access, and how results are returned held importance. Most women value the opportunity for PBCRA to inform increased surveillance, while highlighting hesitance to accept reduced surveillance as they find reassurance in regular screening. Women with BRCA pathogenic variants value the potential for PBCRA to identify a lower cancer risk and potentially inform delayed prophylactic surgery. This study highlights complexities in adopting advances in BC early detection, especially for current users who value existing processes as a social good.

scholarly journals Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy

Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 532
Author(s):  
Gisella Figlioli ◽  
Arcangela De Nicolo ◽  
Irene Catucci ◽  
Siranoush Manoukian ◽  
Bernard Peissel ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Disease Risk ◽  
Northern Italy ◽  
Genetic Isolate ◽  
National Population ◽  
Pathogenic Variants ◽  
High Breast Cancer Risk

Germline pathogenic variants (PVs) in the BRCA1 or BRCA2 genes cause high breast cancer risk. Recurrent or founder PVs have been described worldwide including some in the Bergamo province in Northern Italy. The aim of this study was to compare the BRCA1/2 PV spectra of the Bergamo and of the general Italian populations. We retrospectively identified at five Italian centers 1019 BRCA1/2 PVs carrier individuals affected with breast cancer and representative of the heterogeneous national population. Each individual was assigned to the Bergamo or non-Bergamo cohort based on self-reported birthplace. Our data indicate that the Bergamo BRCA1/2 PV spectrum shows less heterogeneity with fewer different variants and an average higher frequency compared to that of the rest of Italy. Consistently, four PVs explained about 60% of all carriers. The majority of the Bergamo PVs originated locally with only two PVs clearly imported. The Bergamo BRCA1/2 PV spectrum appears to be private. Hence, the Bergamo population would be ideal to study the disease risk associated with local PVs in breast cancer and other disease-causing genes. Finally, our data suggest that the Bergamo population is a genetic isolate and further analyses are warranted to prove this notion.

scholarly journals Predictors of risk-reducing surgery intentions following genetic counseling for hereditary breast and ovarian cancer

2018 ◽  
Vol 10 (2) ◽  
pp. 337-346 ◽  
Author(s):  
Mary Kathleen Ladd ◽  
Beth N Peshkin ◽  
Leigha Senter ◽  
Shari Baldinger ◽  
Claudine Isaacs ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Cancer Risk ◽  
Prophylactic Surgery ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Affective Factors ◽  
Risk Reducing

Abstract Risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO) are increasingly used to reduce breast and ovarian cancer risk following BRCA1/BRCA2 testing. However, little is known about how genetic counseling influences decisions about these surgeries. Although previous studies have examined intentions prior to counseling, few have examined RRM and RRSO intentions in the critical window between genetic counseling and test result disclosure. Previous research has indicated that intentions at this time point predict subsequent uptake of surgery, suggesting that much decision-making has taken place prior to result disclosure. This period may be a critical time to better understand the drivers of prophylactic surgery intentions. The aim of this study was to examine predictors of RRM and RRSO intentions. We hypothesized that variables from the Health Belief Model would predict intentions, and we also examined the role of affective factors. Participants were 187 women, age 21–75, who received genetic counseling for hereditary breast and ovarian cancer. We utilized multiple logistic regression to identify independent predictors of intentions. 49.2% and 61.3% of participants reported intentions for RRM and RRSO, respectively. Variables associated with RRM intentions include: newly diagnosed with breast cancer (OR = 3.63, 95% CI = 1.20–11.04), perceived breast cancer risk (OR = 1.46, 95% CI = 1.17–1.81), perceived pros (OR = 1.79, 95% CI = 1.38–2.32) and cons of RRM (OR = 0.81, 95% CI = 0.65–0.996), and decision conflict (OR = 0.80, 95% CI = 0.66–0.98). Variables associated with RRSO intentions include: proband status (OR = 0.28, 95% CI = 0.09–0.89), perceived pros (OR = 1.35, 95% CI = 1.11–1.63) and cons of RRSO (OR = 0.72, 95% CI = 0.59–0.89), and ambiguity aversion (OR = 0.79, 95% CI = 0.65–0.95). These data provide support for the role of genetic counseling in fostering informed decisions about risk management, and suggest that the role of uncertainty should be explored further.

scholarly journals Implementation of interventions targeting the uptake of genetic testing services for breast cancer risk: protocol for a systematic review

BMJ Open ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. e031727
Author(s):  
Subash Thapa ◽  
Anja Leppin ◽  
Rikke Kristensen ◽  
Mette Just Bonde ◽  
Arja R Aro
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Cochrane Library ◽  
Intervention Level ◽  
Pathogenic Variants ◽  
Implementation Outcomes ◽  
Intervention Description

IntroductionThe timely identification of breast cancer-related pathogenic variants can help to identify the risk of potential disease development and determine healthcare choices. However, the uptake rate of genetic testing services for breast cancer risk remains low in many countries. Interventions targeting the uptake of these services among individuals potentially at risk for inherited breast cancer are often complex and have multiple components, and are therefore difficult to implement, replicate and disseminate to new contexts. Our aim is to systematically review studies targeting the uptake of genetic testing services for breast cancer risk and critically assess the quality of implementation outcomes and the reporting of intervention descriptions.Methods and analysisPubMed, CINAHL, PsycINFO, Embase, Cochrane Library and all Campbell Coordinating Group databases will be searched for intervention studies that target individuals' participation in breast cancer genetic testing programmes. Papers published in English within the time period from January 2005 until October 2019 will be considered for inclusion. Titles, abstracts and full papers will be screened for eligibility by two pairs of reviewers independently. For data analysis and synthesis, study-level and intervention-level characteristics will be abstracted. We will present all implementation outcomes that are mentioned in each of the studies and register the number of studies that do not at all look at or report implementation outcomes. The quality of implementation will be checked using a 5-point rubric item, and the quality and completeness of reporting of intervention description will be evaluated using the 12-item Template for Intervention Description and Replication (TIDieR).Ethics and disseminationEthical approval is not required to conduct this review. Review findings will be disseminated to academic and non-specialist audiences via peer-reviewed academic journals and presented at appropriate conferences, workshops and meetings to policymakers, practitioners and organisations that work with our population of interest.PROSPERO registration numberCRD42018105732.

scholarly journals Breast Cancer Risk Assessments Comparing Gail and CARE Models in African-American Women

2009 ◽  
Vol 15 ◽  
pp. S72-S75 ◽  
Author(s):  
Lucile L. Adams-Campbell ◽  
Kepher H. Makambi ◽  
Wayne A.I. Frederick ◽  
Melvin Gaskins ◽  
Robert L. DeWitty ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
African American Women ◽  
Risk Assessments ◽  
American Women ◽  
Care Models

scholarly journals Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Cierla McGuire Sams ◽  
Kasey Shepp ◽  
Jada Pugh ◽  
Madison R. Bishop ◽  
Nancy D. Merner
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Treatment Strategies ◽  
The Cancer Genome Atlas ◽  
Acid Oxidation ◽  
Loss Of Function ◽  
Cancer Proliferation ◽  
Hydroxycarboxylic Acid ◽  
Pathogenic Variants

Abstract Background Three genes clustered together on chromosome 12 comprise a group of hydroxycarboxylic acid receptors (HCARs): HCAR1, HCAR2, and HCAR3. These paralogous genes encode different G-protein coupled receptors responsible for detecting glycolytic metabolites and controlling fatty acid oxidation. Though better known for regulating lipid metabolism in adipocytes, more recently, HCARs have been functionally associated with breast cancer proliferation/survival; HCAR2 has been described as a tumor suppressor and HCAR1 and HCAR3 as oncogenes. Thus, we sought to identify germline variants in HCAR1, HCAR2, and HCAR3 that could potentially be associated with breast cancer risk. Methods Two different cohorts of breast cancer cases were investigated, the Alabama Hereditary Cancer Cohort and The Cancer Genome Atlas, which were analyzed through nested PCRs/Sanger sequencing and whole-exome sequencing, respectively. All datasets were screened for rare, non-synonymous coding variants. Results Variants were identified in both breast cancer cohorts, some of which appeared to be associated with breast cancer BC risk, including HCAR1 c.58C > G (p.P20A), HCAR2 c.424C > T (p.R142W), HCAR2 c.517_518delinsAC (p.G173T), HCAR2 c.1036A > G (p.M346V), HCAR2 c.1086_1090del (p.P363Nfs*26), HCAR3 c.560G > A (p.R187Q), and HCAR3 c.1117delC (p.Q373Kfs*82). Additionally, HCAR2 c.515C > T (p.S172L), a previously identified loss-of-function variant, was identified. Conclusions Due to the important role of HCARs in breast cancer, it is vital to understand how these genetic variants play a role in breast cancer risk and proliferation and their consequences on treatment strategies. Additional studies will be needed to validate these findings. Nevertheless, the identification of these potentially pathogenic variants supports the need to investigate their functional consequences.

Family cancer patterns and variation by race and ethnicity among individuals with pathogenic variants in multi-gene cancer predisposition panels at a large urban comprehensive cancer center.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13540-e13540
Author(s):  
Sushma Tatineni ◽  
Kristen Purrington ◽  
Hadeel Assad ◽  
Nadine Abdallah ◽  
Meri Tarockoff ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Colon Cancer ◽  
Family History ◽  
Cancer Risk ◽  
Race And Ethnicity ◽  
Cancer Predisposition ◽  
Comprehensive Cancer Center ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
History Of

e13540 Background: The identification of pathogenic variants and variants of unknown significance (VUS) in multi-gene cancer predisposition testing raises new questions regarding cancer risk and management. We evaluated the personal and family cancer patterns and variation by race and ethnicity, among individuals positive for pathogenic variants in non-BRCA1/ 2 cancer predisposing genes. Methods: The Karmanos Cancer Institute (KCI) Cancer Genetics database was queried from May 13, 2013 through December 31, 2018. There were 3,544 unrelated individuals evaluated for hereditary cancer predisposition of whom 1,868 had 18-gene panel testing at 6 sites across Michigan. Data was collected on personal and family cancer history including ages at diagnosis utilizing a 3-generation pedigree, self-identified race and ethnicity and results of genetic testing. We describe the prevalence of pathogenic variants by proband cancer diagnosis, family history, race, and ethnicity. Results: The race/ethnic distribution of the tested cohort included 67.5% non-Hispanic White (NHW), 24.4% African American (AA), 2.1% Arab, 1.8% Ashkenazi Jewish (AJ), 1.0% Hispanic, and 3.4% other. The distribution of cancer diagnoses included 40.6% breast, 5.5% ovarian, 4.1% colon, 3.5% endometrial, 2.0% pancreas and 39.7% unaffected. Pathogenic variants were seen in 151 (8.1%) individuals and VUS in 309 (16.5%). The five most common pathogenic variants were CHEK2 (40), MUTYH (22), ATM (20), and PALB2 (18). The most common pathogenic variants by race and ethnicity were CHEK2 (NHW), RAD51C (AA), PALB2 (Arab), CHEK2, MSH6 (AJ), and none in Hispanics. Variants associated with the four most common cancer types were breast ( CHEK2 ), ovarian ( CHEK2, MUTYH, BRIP1), colon ( ATM), and endometrial ( MSH6, PALB2). Of 40 individuals with CHEK2 variants, 92.5% were NHW, and 34 (85%), 31 (78%), 10 (25%), 1 (2.5%) had family history of breast cancer, breast cancer before age 50, ovarian, and colon cancer, respectively. Of 20 with ATM variants, 95% were NHW, 13 had family history data and 10 (76.9%), 8 (61.5%), 2 (15.4%), 1 (7.7%) had family history of breast, breast cancer before age 50, ovarian, and colon cancer, respectively. Conclusions: Pathogenic variants seen using multigene panel testing differ by race, ethnicity and personal/family history of cancer. This data will inform genetic counseling strategies in regards to cancer risk and management. Data on additional genes updated through 2019 will be presented.

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