scholarly journals Should Genetic Testing for Cancer Predisposition Be Standard-of-Care for Women with Invasive Breast Cancer? The Murtha Cancer Center Experience

Cancers ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 234 ◽  
Author(s):  
Seth K. Rummel ◽  
Leann A. Lovejoy ◽  
Clesson E. Turner ◽  
Craig D. Shriver ◽  
Rachel E. Ellsworth
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Invasive Breast Cancer ◽  
Treatment Strategies ◽  
Standard Of Care ◽  
Cancer Center ◽  
Clinical Testing ◽  
High Risk Women ◽  
Panel Testing

Currently, genetic testing is offered only to women diagnosed with breast cancer who meet a defined set of criteria and is not included as standard-of-care treatment at the time of diagnosis. Thus, a significant number of women diagnosed with breast cancer may miss the opportunity for precision medical treatment and risk management. The effects of eligibility, timing, and uptake of genetic testing were evaluated in a cohort of women with invasive breast cancer diagnosed between 2001–2018. Risk status was estimated using NCCN BRCA1/2 testing criteria and panel testing was performed for all women who had genomic DNA available. Of the 1231 women, 57.8% were eligible for genetic testing. Uptake of testing within high-risk women was 42.7% of which 6.6% pursued clinical testing only after a second tumor event. Mutation frequencies were 15.8%, 5.5%, and 4.0% in high-risk women with clinical testing, high-risk women without clinical testing, and low-risk women, respectively. More than 4% of all patients harbored pathogenic or likely pathogenic mutations detected only in the research setting. Inclusion of panel testing at the time of diagnosis would allow for appropriate surveillance and treatment strategies to be employed to reduce the risk of secondary tumors and improve patient outcome.

Psychological and social predictors of decisions about genetic testing for breast cancer in high-risk women

2001 ◽  
Vol 6 (3) ◽  
pp. 321-333 ◽  
Author(s):  
M. Cappelli ◽  
L. Surh ◽  
M. Walker ◽  
Y. Korneluk ◽  
L. Humphreys ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Social Predictors ◽  
High Risk Women

scholarly journals Body Mass Index and the Risk for Developing Invasive Breast Cancer among High-Risk Women in NSABP P-1 and STAR Breast Cancer Prevention Trials

2012 ◽  
Vol 5 (4) ◽  
pp. 583-592 ◽  
Author(s):  
Reena S. Cecchini ◽  
Joseph P. Costantino ◽  
Jane A. Cauley ◽  
Walter M. Cronin ◽  
D. Lawrence Wickerham ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Body Mass Index ◽  
High Risk ◽  
Cancer Prevention ◽  
Body Mass ◽  
Invasive Breast Cancer ◽  
Breast Cancer Prevention ◽  
High Risk Women ◽  
Prevention Trials

Psychological and social predictors of decisions about genetic testing for breast cancer in high-risk women

2001 ◽  
Vol 6 (3) ◽  
pp. 321-333 ◽  
Author(s):  
M. Cappelli ◽  
L. Surh ◽  
M. Walker ◽  
Y. Korneluk ◽  
L. Humphreys ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Social Predictors ◽  
High Risk Women

PALB2 mutations in high-risk women with breast or ovarian cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1527-1527 ◽  
Author(s):  
Kelly A. Metcalfe ◽  
Mohammad R Akbari ◽  
Steven Narod ◽  
Jordan Lerner-Ellis
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Brca Mutation ◽  
Bilateral Breast Cancer ◽  
Brca1 And Brca2 ◽  
Unilateral Breast Cancer ◽  
High Risk Women ◽  
Significant Difference

1527 Background: In Canada, genetic testing for BRCA1 and BRCA2 is available free of charge to women who meet eligibility criteria, based on personal and family history of cancer. Less than 10% of women are identified with a BRCA mutation, despite features of hereditary cancer. PALB2 has been identified as a moderate penetrance gene in various populations. In the current study, we examined the frequency of PALB2 mutations in women with breast or ovarian cancer who met criteria for genetic testing for BRCA1 and BRCA2and tested negative. Methods: DNA samples from women with breast or ovarian cancer, who met criteria for provincial BRCA1 and BRCA2 genetic testing and tested negative between the years of 2007 and 2014 were included in this study. All 13 coding exons of PALB2 plus 20 base pairs from the exon boundaries were amplified using Wafergen SmartChip technology. The amplified DNA were paired-end sequenced at 2x250 cycles using an Illumina MiSeq sequencer. Results: 2,225 women with breast cancer and 429 women with ovarian cancer were tested for PALB2 mutations. No PALB2 mutations were found in women with ovarian cancer. Seventeen deleterious PALB2 mutations were detected in women with breast cancer (0.8%). The frequency of PALB2 mutations was significantly higher in women with bilateral breast cancer (2.4%) compared to women with unilateral breast cancer (0.6%) (p = 0.01). There was no significant difference in age at diagnosis between those with and without a PALB2mutation (50.9 years vs 53.8 years; p = 0.34). Conclusions: Genetic testing for PALB2 should be considered for high-risk women with breast cancer, especially those who present with bilateral breast cancer. However, PALB2 does not appear to contribute to ovarian cancer which has implications for counselling women who are identified with a PALB2 mutation.

Breast cancer in women at high risk: The role of rapid genetic testing for BRCA1 and -2 mutations and the consequences for treatment strategies

The Breast ◽  
2013 ◽  
Vol 22 (5) ◽  
pp. 561-568 ◽  
Author(s):  
Anne Brecht Francken ◽  
Philip C. Schouten ◽  
Eveline M.A. Bleiker ◽  
Sabine C. Linn ◽  
Emiel J.Th. Rutgers
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Treatment Strategies ◽  
Rapid Genetic Testing

scholarly journals Understanding low chemoprevention uptake by women at high risk of breast cancer: findings from a qualitative inductive study of women’s risk-reduction experiences

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Tasleem J. Padamsee ◽  
Megan Hils ◽  
Anna Muraveva
Keyword(s):  
Breast Cancer ◽  
African American ◽  
High Risk ◽  
Risk Reduction ◽  
White Women ◽  
Future Research ◽  
Structured Interviews ◽  
Critical Gap ◽  
High Risk Women ◽  
Parent Project

Abstract Background Chemoprevention is one of several methods that have been developed to help high-risk women reduce their risk of breast cancer. Reasons for the low uptake of chemoprevention are poorly understood. This paper seeks a deeper understanding of this phenomenon by drawing on women’s own narratives about their awareness of chemoprevention and their risk-related experiences. Methods This research is based on a parent project that included fifty in-depth, semi-structured interviews with a purposive sample of African American and White women at elevated risk of breast cancer. This specific study draws on the forty-seven interviews conducted with women at high or severe risk of breast cancer, all of whom are eligible to use chemoprevention for breast cancer risk-reduction. Interviews were analyzed using grounded theory methods. Results Forty-five percent of participants, and only 21% of African American participants, were aware of chemoprevention options. Women who had seen specialists were more likely to be aware, particularly if they had ongoing specialist access. Aware and unaware women relied on different types of sources for prevention-related information. Those whose main source of information was a healthcare provider were more likely to know about chemoprevention. Aware women used more nuanced information gathering strategies and worried more about cancer. Women simultaneously considered all risk-reduction options they knew about. Those who knew about chemoprevention but were reluctant to use it felt this way for multiple reasons, having to do with potential side effects, perceived extreme-ness of the intervention, similarity to chemotherapy, unknown information about chemoprevention, and reluctance to take medications in general. Conclusions Lack of chemoprevention awareness is a critical gap in women’s ability to make health-protective choices. Future research in this field must consider complexities in both women’s perspectives on chemoprevention and the reasons they are reluctant to use it.

scholarly journals Extended gene panel testing in lobular breast cancer

2021 ◽  
Author(s):  
Elke M. van Veen ◽  
D. Gareth Evans ◽  
Elaine F. Harkness ◽  
Helen J. Byers ◽  
Jamie M. Ellingford ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Detection Rate ◽  
Gene Panel ◽  
Lobular Breast Cancer ◽  
Germline Variants ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing ◽  
Increased Risk

AbstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53.Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83–66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58–23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52–29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

scholarly journals Intratumoural Cytochrome P450 Expression in Breast Cancer: Impact on Standard of Care Treatment and New Efforts to Develop Tumour-Selective Therapies

Biomedicines ◽  
2021 ◽  
Vol 9 (3) ◽  
pp. 290
Author(s):  
Smarakan Sneha ◽  
Simon C. Baker ◽  
Andrew Green ◽  
Sarah Storr ◽  
Radhika Aiyappa ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cytochrome P450 ◽  
Treatment Strategies ◽  
Standard Of Care ◽  
Therapeutic Index ◽  
Cancer Cell Proliferation ◽  
Selective Treatment ◽  
Standard Of Care Treatment ◽  
Future Work ◽  
Treat Breast Cancer

Despite significant advances in treatment strategies over the past decade, selective treatment of breast cancer with limited side-effects still remains a great challenge. The cytochrome P450 (CYP) family of enzymes contribute to cancer cell proliferation, cell signaling and drug metabolism with implications for treatment outcomes. A clearer understanding of CYP expression is important in the pathogenesis of breast cancer as several isoforms play critical roles in metabolising steroid hormones and xenobiotics that contribute to the genesis of breast cancer. The purpose of this review is to provide an update on how the presence of CYPs impacts on standard of care (SoC) drugs used to treat breast cancer as well as discuss opportunities to exploit CYP expression for therapeutic intervention. Finally, we provide our thoughts on future work in CYP research with the aim of supporting ongoing efforts to develop drugs with improved therapeutic index for patient benefit.

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