Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes

Weiss, Anna; Garber, Judy E.; King, Tari A.

doi:10.1001/jamasurg.2018.2493

Cited by 13 publications

(27 citation statements)

References 8 publications

(36 reference statements)

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“…Moreover, associations may disappear as data emerge, as has been suggested with the NBN gene which was suggested to be associated with an increased breast cancer risk based on data on the Slavic truncating founder variant (657del5), 30 yet more recent studies indicated no association 31 . Consequently, the relationship between P/LP variants in many of these more recently identified genes and breast cancer risk is not sufficient at this time to warrant changes in medical management, 32 and may evolve with time.…”

Section: Testing For Germline Mutationsmentioning

confidence: 99%

Update on multi‐gene panel testing and communication of genetic test results

Reid

Pal

2020

Breast J

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With technological advances, multi‐gene panel testing has become increasingly used to identify patients at risk for hereditary breast cancer (HBC). There are currently evidence‐based interventions and breast cancer screening strategies that exist for cancer prevention and early detection among patients with HBC. Moreover, in addition to the personal impact of identifying HBC, this information may be shared with at‐risk family members to amplify the benefits of testing and subsequent care among those at high risk. Opportunities and challenges with the utilization of updated multi‐gene panel testing for HBC, including: (a) tumor sequencing with germline consequences; (b) genetic counseling implications; and (c) strategies to improve the communication of genetic test results to family members will be reviewed. With the advances and expansion of genetic testing, all health care providers need to be updated on both the importance and complexities of HBC counseling and testing, in order to optimize patient care.

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Section: Testing For Germline Mutationsmentioning

confidence: 99%

Update on multi‐gene panel testing and communication of genetic test results

Reid

Pal

2020

Breast J

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“…and BRCA2. Further, our patient population had a higher percentage of women who had already been diagnosed with breast cancer and literature does not currently show there is an increased risk for a second primary breast cancer in individuals with a PV in a moderate penetrance gene (Bernstein et al, 2017;Weiss et al, 2018).…”

Section: Anxietymentioning

confidence: 89%

“…where there is a known risk for a second primary breast cancer, there is no defined risk for a second primary in individuals who carry PV in moderate penetrance genes associated with breast cancer (Bernstein et al, 2017;Weiss et al, 2018). Additionally, NCCN guidelines are not clear on discussion of risk-reducing management.…”

Section: Comprehensive Theme Discussionmentioning

confidence: 99%

“…In our cohort, patient autonomy and insurance/finances were among the most frequently discussed decision‐making factors. This could be because unlike BRCA1 and BRCA2, where there is a known risk for a second primary breast cancer, there is no defined risk for a second primary in individuals who carry PV in moderate penetrance genes associated with breast cancer (Bernstein et al, 2017; Weiss et al, 2018). Additionally, NCCN guidelines are not clear on discussion of risk‐reducing management.…”

Section: Discussionmentioning

confidence: 99%

“…Due to this, there is limited information regarding a framework for clinical decision‐making for individuals who have a PV in a moderate penetrance gene (Desmond et al, 2015; E. R. Thompson et al, 2016; Tung et al, 2016). Research and evidence are lacking with respect to the occurrence of second primary breast cancers in carriers of PV in moderate penetrance genes (Bernstein, Concannon, & Group, 2017; Weiss, Garber, & King, 2018). Previous studies have suggested that the decision to proceed with surgery must take into consideration the personal and family risk factors unique to each patient (Frey, Salibian, Schnabel, Choi, & Karp, 2017).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Factors that impact risk management decisions among women with pathogenic variants in moderate penetrance genes associated with hereditary breast cancer

Napoli

Lewis

Hopper

et al. 2020

Journal of Genetic Counseling

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There is limited information known about how women with pathogenic variants (PV) in moderate penetrance genes make decisions to manage their increased risk of breast cancer. This study analyzed factors that may impact decision-making surrounding management for increased breast cancer risk. Women with a PV in a moderate penetrance gene associated with increased risk for breast cancer were identified from an institutional database. Semi-structured, qualitative interviews were conducted to analyze decision-making factors. Themes were developed using deductive codes based on previous literature and inductive codes based on interviewee responses. The 16 participants (mean age = 55.9 years) included 12 women with a breast cancer diagnosis. Six women (37.5%) chose bilateral mastectomy (BM), and 10 women (62.5%) chose surveillance as management. Of the 12 women with a personal history of breast cancer, four chose to have BM (33.3%). Two women without a personal history of breast cancer chose to have BM (50.0%). Transcriptions revealed seven comprehensive themes, as well as themes unique to affected and unaffected women (Cohen's kappa = 0.80). Physician opinion was the only factor present in all interviews reported to influence risk management decision-making. Several themes were consistent with prior BRCA1/BRCA2 research (family history, risk perception, sibling influence, and physician opinions). Autonomy and insurance/finances were also important factors to participants. There were certain differences in decision-making factors between affected and unaffected women, such as partner influence. Results indicate an opportunity for providers to engage their patients in a decision-making process.

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Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes

Vanderwal

Lewis

Basil

et al. 2023

Journal of Genetic Counseling

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Pathogenic variants in moderate penetrance breast cancer susceptibility genes, such as ATM, CHEK2, CDH1, NBN, NF1, PALB2, and STK11, confer a two-to five-fold increased lifetime risk for breast cancer. The National Comprehensive Cancer Network has guidelines for breast surgeons to utilize when counseling women with pathogenic variants in these genes; however, previous studies indicate that other factors impact breast surgeons' recommendations to patients.This study investigated factors influencing management recommendations presented by breast surgeons to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes. Focus groups and interviews were conducted with breast surgeons practicing in Ohio, Kentucky, and Indiana. A total of 15 breast surgeons from 8 different hospitals participated in 5 focus groups and 3 individual interviews. Participants discussed factors they consider when making management recommendations for risk reduction in women with pathogenic variants in moderate penetrance breast cancer susceptibility genes. Participants provided risk management recommendations for given scenarios. Patient motivation/opinion, family history, patient current health status, patient personal preference, and patient anxiety level were among the most common factors mentioned. It appeared that how these factors are valued and applied in practice varies. There was no consensus among breast surgeons on which risk-reducing management options they would recommend in each scenario. There are many factors breast surgeons take into consideration when making recommendations for this patient population. This information could inform future research on decision making around treatment for individuals with pathogenic variants in moderate penetrance breast cancer susceptibility genes.

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Breast Cancer Surgical Risk Reduction for Patients With Inherited Mutations in Moderate Penetrance Genes

Cited by 13 publications

References 8 publications

Update on multi‐gene panel testing and communication of genetic test results

Update on multi‐gene panel testing and communication of genetic test results

Factors that impact risk management decisions among women with pathogenic variants in moderate penetrance genes associated with hereditary breast cancer

Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes

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