NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020

Daly, Mary B.; Pilarski, Robert; Yurgelun, Matthew B.; Berry, Michael; Buys, Saundra S.; Dickson, Patricia; Domchek, Susan M.; Elkhanany, Ahmed; Friedman, Susan J.; Garber, Judy E.; Goggins, Michael; Hutton, Mollie L.; Khan, Sharmin; Klein, Catherine; Kohlmann, Wendy; Kurian, Allison W.; Laronga, Christine; Litton, Jennifer K.; Mak, Julie; Menendez, Carolyn S.; Merajver, Sofía D.; Norquist, Barbara M.; Offit, Kenneth; Pal, Tuya; Pederson, Holly J.; Reiser, Gwen; Shannon, Kristen M.; Visvanathan, Kala; Weitzel, Jeffrey N.; Wick, Myra J.; Wisinski, Kari B.; Dwyer, Mary A.; Darlow, Susan

doi:10.6004/jnccn.2020.0017

Cited by 378 publications

(458 citation statements)

References 89 publications

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“…PCPs apply familial risk assessment tools to women with a personal or family history of breast or ovarian/tubal/peritoneal cancers, or who have an ancestry indicative of BRCA1/2 gene mutations (2). This reliance on PCPs could provide a challenge considering that cancer risk models continuously evolving to include additional etiologic and genetic risk factors (1,40) and these updated models may not be effectively incorporated into primary care practices. Previous studies have shown that guideline dissemination is not necessarily adequate to change practice behavior (41,42).…”

Section: Discussionmentioning

confidence: 99%

“…Risk assessment for breast and ovarian cancer include assessment of hereditary and demographic factors including age, family history, genetic testing results (self/relatives) and ancestry (1,2) (National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology (NCCN Guidelines®), https://www.nccn.org/professionals/physician_gls/default.aspx). Breast cancer screening recommendations for women at average risk include mammography, although guidelines are inconsistent in terms of starting age and frequency (3-5) (Susan G. Komen Breast Cancer Screening for Women at Average Risk, https://ww5.komen.org/BreastCancer/BreastCancerScreeningforWomenatAverageRisk.html).…”

Section: Introductionmentioning

confidence: 99%

“…For women deemed at high risk for breast cancer (e.g. 5-year risk ≥1.67% or lifetime risk of ≥20% (6)), screening recommendations begin at a younger age (Susan G. Komen Breast Cancer Screening for Women at Higher Risk, https://ww5.komen.org/BreastCancer/BreastCancerScreeningForWomenAtHigherRisk.html), and suggested risk reduction interventions include lifestyle behaviors, increased mammography screening, chemopreventive agents and/or mastectomy (1,7,8). Selective estrogen receptor modulators (SERMs) and aromatase inhibitors (AIs) have shown to provide a 50-65% relative risk reduction in women at high risk of breast cancer (6,(9)(10)(11)(12)(13)(14)(15)(16).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Assessment of and Interventions for Women at High Risk for Breast or Ovarian Cancer: A Survey of Primary Care Physicians

Samimi

Heckman-Stoddard

Holmberg

et al. 2021

Cancer Prevention Research

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As clinical guidelines for cancer prevention refer individuals to primary care physicians (PCPs) for risk assessment and clinical management, PCPs may be expected to play an increasing role in cancer prevention. It is crucial that PCPs are adequately supported to assess an individual's cancer risk and make appropriate recommendations. The objective of this study is to assess use, familiarity, attitude and behaviors of PCPs regarding breast and ovarian cancer risk and prevention, to better understand the factors that influence their prescribing behaviors. We conducted a cross-sectional, web-based survey of PCPs in the United States, recruited from an opt-in healthcare provider panel. Invitations were sent in batches until the target sample size of 750 respondents (250 each for OB/GYN, internal medicine and family medicine) was met. Selfreported use of breast/ovarian cancer risk assessments was low (34.7%-59.2%) compared with discussion of cancer family history (96.9%), breast exams (87.1%) and mammograms (92.8%). While most respondents (48.0-66.8%) were familiar with cancer prevention interventions, respondents who reported to be less familiar were more likely to report cautious attitudes. When presented with hypothetical cases depicting patients at different breast/ovarian cancer risks, up to 34.0% of respondents did not select any of the clinically recommended course(s) of action. This survey suggests that PCP use of breast/ovarian cancer risk assessment tools and ability to translate the perceived risks to clinical actions is variable. Improving implementation of cancer risk assessment and clinical management guidelines within primary care may be necessary to improve the appropriate prescribing of cancer prevention interventions.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Assessment of and Interventions for Women at High Risk for Breast or Ovarian Cancer: A Survey of Primary Care Physicians

Samimi

Heckman-Stoddard

Holmberg

et al. 2021

Cancer Prevention Research

View full text Add to dashboard Cite

show abstract

“…Data analysis further indicates that 3 times the deaths resulting from colorectal cancer would be avoided with one third of current costs if colorectal cancer screening rates in people aged 50-70 years improved to 80% [ 15 ]. For the genetically predisposed individual, the benefit of prescribed cancer screening has an even greater impact [ 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

The Impact of COVID-19 on Cancer Screening: Challenges and Opportunities

Cancino¹,

Su²,

Mesa³

et al. 2020

JMIR Cancer

121

124

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Cancer is a leading cause of death in the United States and across the globe. Cancer screening is an effective preventive measure that can reduce cancer incidence and mortality. While cancer screening is integral to cancer control and prevention, due to the COVID-19 outbreak many screenings have either been canceled or postponed, leaving a vast number of patients without access to recommended health care services. This disruption to cancer screening services may have a significant impact on patients, health care practitioners, and health systems. In this paper, we aim to offer a comprehensive view of the impact of COVID-19 on cancer screening. We present the challenges COVID-19 has exerted on patients, health care practitioners, and health systems as well as potential opportunities that could help address these challenges.

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“…Multigene panel testing has revealed that germline loss-of-function mutations/pathogenic variants (PVs) in various cancer-associated genes are identified in more than 10% and 20% of patients with BC and OC, respectively [1][2][3]. Attempts have been made to define the genetic/familial risk of BC/OC associated with these genes, and subsequently, management recommendations for carriers of PVs in some of the high-penetrance genes have been established [4,5]. Despite this, several genes in which PVs confer low-or moderate-penetrance effects still require more evidence and more convincing assessments of BC/OC risk to utilize them in recommendations for carriers.…”

Section: Introductionmentioning

confidence: 99%

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

Suszyńska

Kozlowski

2020

Genes

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Over the last two decades, numerous BARD1 mutations/pathogenic variants (PVs) have been found in patients with breast cancer (BC) and ovarian cancer (OC). However, their role in BC and OC susceptibility remains controversial, and strong evidence-based guidelines for carriers are not yet available. Herein, we present a comprehensive catalog of BARD1 PVs identified in large cumulative cohorts of ~48,700 BC and ~20,800 OC cases (retrieved from 123 studies examining the whole coding sequence of BARD1). Using these resources, we compared the frequency of BARD1 PVs in the cases and ~134,100 controls from the gnomAD database and estimated the effect of the BARD1 PVs on BC and OC risks. The analysis revealed that BARD1 is a BC moderate-risk gene (odds ratio (OR) = 2.90, 95% CIs:2.25–3.75, p < 0.0001) but not an OC risk gene (OR = 1.36, 95% CIs:0.87–2.11, p = 0.1733). In addition, the BARD1 mutational spectrum outlined in this study allowed us to determine recurrent PVs and evaluate the variant-specific risk for the most frequent PVs. In conclusion, these precise estimates improve the understanding of the role of BARD1 PVs in BC and OC predisposition and support the need for BARD1 diagnostic testing in BC patients.

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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020

Cited by 378 publications

References 89 publications

Assessment of and Interventions for Women at High Risk for Breast or Ovarian Cancer: A Survey of Primary Care Physicians

Assessment of and Interventions for Women at High Risk for Breast or Ovarian Cancer: A Survey of Primary Care Physicians

The Impact of COVID-19 on Cancer Screening: Challenges and Opportunities

Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations

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