Publications by authors named "Lisa Madlensky"

56 Publications

Risk estimation, anxiety, and breast cancer worry in women at risk for breast cancer: A single-arm trial of personalized risk communication.

Psychooncology 2019 11 2;28(11):2226-2232. Epub 2019 Sep 2.

UCLA Center for SMART Health, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California.

Objective: Elevated anxiety and breast cancer worry can impede mammographic screening and early breast cancer detection. Genetic advances and risk models make personalized breast cancer risk assessment and communication feasible, but it is unknown whether such communication of risk affects anxiety and disease-specific worry. We studied the effect of a personalized breast cancer screening intervention on risk perception, anxiety, and breast cancer worry.

Methods: Women with a normal mammogram but elevated risk for breast cancer (N = 122) enrolled in the Athena Breast Health risk communication program were surveyed before and after receiving a letter conveying their breast cancer risk and a breast health genetic counselor consultation. We compared breast cancer risk estimation, anxiety, and breast cancer worry before and after risk communication and evaluated the relationship of anxiety and breast cancer worry to risk estimation accuracy.

Results: Women substantially overestimated their lifetime breast cancer risk, and risk communication somewhat mitigated this overestimation (49% pre-intervention, 42% post-intervention, 13% Gail model risk estimate, P < .001). Both general anxiety and breast cancer worry declined significantly after risk communication in women with high baseline anxiety. Baseline anxiety and breast cancer worry were essentially unrelated to risk estimation accuracy, but risk communication increased alignment of worry with accuracy of risk assessment.

Conclusions: Personalized communication about breast cancer risk was associated with modestly improved risk estimation accuracy in women with relatively low anxiety and less anxiety and breast cancer worry in women with higher anxiety. We detected no negative consequences of informing women about elevated breast cancer risk.
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http://dx.doi.org/10.1002/pon.5211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858926PMC
November 2019

Implementing a Population-Based Breast Cancer Risk Assessment Program.

Clin Breast Cancer 2019 08 11;19(4):246-253.e2. Epub 2019 Mar 11.

Department of Hematology and Oncology, David Geffen School of Medicine at University of California, Los Angeles, CA.

Background: Personalized breast cancer risk assessment is important in identifying and managing women at increased risk for breast cancer. However, there has been little evaluation of the practical aspects of implementing a population-based program that identifies and refers high-risk patients for further evaluation.

Patients And Methods: We implemented a semiautomated approach to collect personal and family history to identify women at high risk of breast cancer. On the basis of the survey, women identified as elevated risk received letters inviting them to telephone consultations with licensed breast health genetic counselors (BHGCs). High-risk women's history was verified and counseling and referrals provided, as appropriate.

Results: Among 20,558 women screened, 2000 (9.7%) women were identified as high risk on the basis of patient initial report. However, most (1,580) were excluded from receiving risk communication after BHGC review of risk information with the woman or because of previous attention to breast cancer risk or an abnormal mammogram. Among 420 subjects who received risk letters, 225 received a BHGC consultation. Of these 225 women, 63 were reclassified as average risk, 158 were referred to high-risk clinics, and 5 consultations were incomplete after determining that further information was needed. Of the 158 women referred to high-risk breast clinics, 51 attended an appointment.

Conclusion: This study highlights the complex nature of a population-based breast cancer screening program in a clinical setting and shows the substantial effort needed to identify newly discovered women at high risk for breast cancer and refer them to appropriate services.
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http://dx.doi.org/10.1016/j.clbc.2019.02.009DOI Listing
August 2019

Addressing Hereditary Cancer Risk at the End of Life.

J Oncol Pract 2017 10 25;13(10):e851-e856. Epub 2017 May 25.

All authors: University of California, San Diego, La Jolla, CA.

Oncology guidelines clearly outline evidence-based recommendations for patients with newly diagnosed cancer to help oncologists determine which patients are appropriate for a genetic assessment. Ideally, patients with newly diagnosed cancer, who have personal or family histories suggestive of hereditary cancer predisposition, are referred for genetics work up in the nonurgent setting. However, in some cases, a genetics work up is delayed until the end of life. This is a time of heightened stress and additional obstacles, including discordance between family members regarding the obtainment of genetic information, paying for testing, selecting a surrogate to receive and disperse information in the case of a patient's death, and the use of DNA banking for future evaluation. To meaningfully participate and support patients, family members, and our colleagues facing requests at the end of life for genetic testing, we provide a practical approach and highlight resources to effectively engage in this rising challenge.
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http://dx.doi.org/10.1200/JOP.2017.021980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366296PMC
October 2017

A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

J Genet Couns 2017 Jun 6;26(3):361-378. Epub 2017 Feb 6.

Department of Genetics, Cell Biology, and Development, University of Minnesota - Twin Cities, Minneapolis, MN, USA.

As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.
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http://dx.doi.org/10.1007/s10897-017-0067-xDOI Listing
June 2017

Breast Cancer Screening in the Precision Medicine Era: Risk-Based Screening in a Population-Based Trial.

J Natl Cancer Inst 2017 01 27;109(5). Epub 2017 Jan 27.

Affiliations of authors: Division of General Internal Medicine, Department of Medicine (YS, EZ, JAT), Department of Surgery (SDS, CKT, ASF, LJE), Department of Radiology (LJE), and Department of Laboratory Medicine, Helen Diller Family Comprehensive Cancer Center (LJvV), University of California, San Francisco, San Francisco, CA; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden (ME); Department of Family Medicine and Public Health, University of California, San Diego, San Diego, CA (LM).

Ongoing controversy over the optimal approach to breast cancer screening has led to discordant professional society recommendations, particularly in women age 40 to 49 years. One potential solution is risk-based screening, where decisions around the starting age, stopping age, frequency, and modality of screening are based on individual risk to maximize the early detection of aggressive cancers and minimize the harms of screening through optimal resource utilization. We present a novel approach to risk-based screening that integrates clinical risk factors, breast density, a polygenic risk score representing the cumulative effects of genetic variants, and sequencing for moderate- and high-penetrance germline mutations. We demonstrate how thresholds of absolute risk estimates generated by our prediction tools can be used to stratify women into different screening strategies (biennial mammography, annual mammography, annual mammography with adjunctive magnetic resonance imaging, defer screening at this time) while informing the starting age of screening for women age 40 to 49 years. Our risk thresholds and corresponding screening strategies are based on current evidence but need to be tested in clinical trials. The Women Informed to Screen Depending On Measures of risk (WISDOM) Study, a pragmatic, preference-tolerant randomized controlled trial of annual vs personalized screening, will study our proposed approach. WISDOM will evaluate the efficacy, safety, and acceptability of risk-based screening beginning in the fall of 2016. The adaptive design of this trial allows continued refinement of our risk thresholds as the trial progresses, and we discuss areas where we anticipate emerging evidence will impact our approach.
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http://dx.doi.org/10.1093/jnci/djw290DOI Listing
January 2017

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017.

J Natl Compr Canc Netw 2017 01;15(1):9-20

National Comprehensive Cancer Network

The NCCN Clinical Practice Guidelines in Oncology for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations for genetic testing and counseling for hereditary cancer syndromes and risk management recommendations for patients who are diagnosed with a syndrome. Guidelines focus on syndromes associated with an increased risk of breast and/or ovarian cancer. The NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel meets at least annually to review comments from reviewers within their institutions, examine relevant new data from publications and abstracts, and reevaluate and update their recommendations. The NCCN Guidelines Insights summarize the panel's discussion and most recent recommendations regarding risk management for carriers of moderately penetrant genetic mutations associated with breast and/or ovarian cancer.
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http://dx.doi.org/10.6004/jnccn.2017.0003DOI Listing
January 2017

Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds Somatic and Notch Pathway Mutations.

JCO Precis Oncol 2017 15;2017. Epub 2017 Aug 15.

University of California, San Diego, La Jolla, CA.

Purpose: GI stromal tumors (GISTs) are commonly associated with somatic mutations in and . However, a subset arises from mutations in , most commonly associated with neurofibromatosis type 1. We define the anatomic distribution of alterations in GIST.

Methods: We describe the demographic/clinicopathologic features of 177 patients from two institutions whose GISTs underwent next-generation sequencing of ≥315 cancer-related genes.

Results: We initially identified six (9.7%) of 62 GISTs with genomic alterations from the first cohort. Of these six patients, five (83.3%) had unifocal tumors at the duodenal-jejunal flexure (DJF). Two additional patients with DJF GISTs had non- ( and ) genomic alterations. After excluding one DJF GIST with an single nucleotide polymorphism, four (57.1%) of seven sequenced DJF tumors demonstrated deleterious alterations, whereas only one (1.8%) of 55 sequenced non-DJF GISTs had a deleterious somatic mutation ( < .001). One patient with DJF GIST had a germline variant that was associated with incomplete penetrance of clinical neurofibromatosis type 1 features along with a somatic mutation. Of the five DJF GISTs with any alteration, three (60%) had mutations, and three (60%) had Notch pathway mutations (, , ). We validated these findings in a second cohort of 115 GISTs, where two (40%) of five unifocal -mutated GISTs arose at the DJF, and one of these also had a Notch pathway mutation ().

Conclusion: Broad genomic profiling of adult GISTs has revealed that alterations are enriched in DJF GISTs. These tumors also may harbor concurrent activating and/or inactivating Notch pathway mutations. In some cases, germline genetic testing may be appropriate for patients with DJF GISTs.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013064PMC
http://dx.doi.org/10.1200/PO.17.00014DOI Listing
August 2017

FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

J Transl Med 2016 12 14;14(1):339. Epub 2016 Dec 14.

School of Medicine, University of California San Diego, La Jolla, CA, USA.

Background: About 10-15% of adult, and most pediatric, gastrointestinal stromal tumors (GIST) lack mutations in KIT, PDGFRA, SDHx, or RAS pathway components (KRAS, BRAF, NF1). The identification of additional mutated genes in this rare subset of tumors can have important clinical benefit to identify altered biological pathways and select targeted therapies.

Methods: We performed comprehensive genomic profiling (CGP) for coding regions in more than 300 cancer-related genes of 186 GISTs to assess for their somatic alterations.

Results: We identified 24 GIST lacking alterations in the canonical KIT/PDGFRA/RAS pathways, including 12 without SDHx alterations. These 24 patients were mostly adults (96%). The tumors had a 46% rate of nodal metastases. These 24 GIST were more commonly mutated at 7 genes: ARID1B, ATR, FGFR1, LTK, SUFU, PARK2 and ZNF217. Two tumors harbored FGFR1 gene fusions (FGFR1-HOOK3, FGFR1-TACC1) and one harbored an ETV6-NTRK3 fusion that responded to TRK inhibition. In an independent sample set, we identified 5 GIST cases lacking alterations in the KIT/PDGFRA/SDHx/RAS pathways, including two additional cases with FGFR1-TACC1 and ETV6-NTRK3 fusions.

Conclusions: Using patient demographics, tumor characteristics, and CGP, we show that GIST lacking alterations in canonical genes occur in younger patients, frequently metastasize to lymph nodes, and most contain deleterious genomic alterations, including gene fusions involving FGFR1 and NTRK3. If confirmed in larger series, routine testing for these translocations may be indicated for this subset of GIST. Moreover, these findings can be used to guide personalized treatments for patients with GIST. Trial registration NCT 02576431. Registered October 12, 2015.
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http://dx.doi.org/10.1186/s12967-016-1075-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157084PMC
December 2016

Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015.

J Natl Compr Canc Netw 2016 02;14(2):153-62

National Comprehensive Cancer Network

The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian provide recommendations for genetic testing and counseling and risk assessment and management for hereditary cancer syndromes. Guidelines focus on syndromes associated with an increased risk of breast and/or ovarian cancer and are intended to assist with clinical and shared decision-making. These NCCN Guidelines Insights summarize major discussion points of the 2015 NCCN Genetic/Familial High-Risk Assessment: Breast and Ovarian panel meeting. Major discussion topics this year included multigene testing, risk management recommendations for less common genetic mutations, and salpingectomy for ovarian cancer risk reduction. The panel also discussed revisions to genetic testing criteria that take into account ovarian cancer histology and personal history of pancreatic cancer.
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http://dx.doi.org/10.6004/jnccn.2016.0018DOI Listing
February 2016

Participation of low-income women in genetic cancer risk assessment and BRCA 1/2 testing: the experience of a safety-net institution.

J Community Genet 2016 Jul 21;7(3):177-83. Epub 2015 Dec 21.

University of California, San Diego, Moores Cancer Center, La Jolla, CA, USA.

Some communities and populations lack access to genetic cancer risk assessment (GCRA) and testing. This is particularly evident in safety-net institutions, which serve a large segment of low-income, uninsured individuals. We describe the experience of a safety-net clinic with limited resources in providing GCRA and BRCA1/2 testing. We compared the proportion and characteristics of high-risk women who were offered and underwent GCRA and genetic testing. We also provide a description of the mutation profile for affected women. All 125 patients who were offered GCRA accepted to undergo GCRA. Of these, 72 % had a breast cancer diagnosis, 70 % were Hispanic, 52.8 % were non-English speakers, and 66 % did not have health insurance. Eighty four (67 %) were offered genetic testing and 81 (96 %) agreed. Hispanic women, those with no medical insurance, and those with a family history of breast cancer were significantly more likely to undergo testing (p > 0.01). Twelve of 81 (15 %) patients were found to have deleterious mutations, seven BRCA1, and five BRCA2. Our experience shows that it is possible to offer GCRA and genetic testing even in the setting of limited resources for these services. This is important given that a large majority of the low-income women in our study agreed to undergo counseling and testing. Our experience could serve as a model for similar low-resource safety-net health settings.
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http://dx.doi.org/10.1007/s12687-015-0257-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4960024PMC
July 2016

Increased risk of additional cancers among patients with gastrointestinal stromal tumors: A population-based study.

Cancer 2015 Sep 30;121(17):2960-7. Epub 2015 Apr 30.

Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California San Diego, La Jolla, California.

Background: Most gastrointestinal stromal tumors (GISTs) are considered nonhereditary or sporadic. However, single-institution studies suggest that GIST patients develop additional malignancies at increased frequencies. It was hypothesized that greater insight could be gained into possible associations between GISTs and other malignancies with a national cancer database inquiry.

Methods: Patients diagnosed with GISTs (2001-2011) in the Surveillance, Epidemiology, and End Results database were included. Standardized prevalence ratios (SPRs) and standardized incidence ratios (SIRs) were used to quantify cancer risks incurred by GIST patients before and after GIST diagnoses, respectively, in comparison with the general US population.

Results: There were 6112 GIST patients, and 1047 (17.1%) had additional cancers. There were significant increases in overall cancer rates: 44% (SPR, 1.44) before the GIST diagnosis and 66% (SIR, 1.66) after the GIST diagnosis. Malignancies with significantly increased occurrence both before and after diagnoses included other sarcomas (SPR, 5.24; SIR, 4.02), neuroendocrine-carcinoid tumors (SPR, 3.56; SIR, 4.79), non-Hodgkin lymphoma (SPR, 1.69; SIR, 1.76), and colorectal adenocarcinoma (SPR, 1.51; SIR, 2.16). Esophageal adenocarcinoma (SPR, 12.0), bladder adenocarcinoma (SPR, 7.51), melanoma (SPR, 1.46), and prostate adenocarcinoma (SPR, 1.20) were significantly more common only before the GIST diagnosis. Ovarian carcinoma (SIR, 8.72), small intestine adenocarcinoma (SIR, 5.89), papillary thyroid cancer (SIR, 5.16), renal cell carcinoma (SIR, 4.46), hepatobiliary adenocarcinoma (SIR, 3.10), gastric adenocarcinoma (SIR, 2.70), pancreatic adenocarcinoma (SIR, 2.03), uterine adenocarcinoma (SIR, 1.96), non-small cell lung cancer (SIR, 1.74), and transitional cell carcinoma of the bladder (SIR, 1.65) were significantly more common only after the GIST diagnosis.

Conclusions: This is the first population-based study to characterize the associations and temporal relations between GISTs and other cancers by both site and histological type. These associations may carry important clinical implications for future cancer screening and treatment strategies.
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http://dx.doi.org/10.1002/cncr.29434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545693PMC
September 2015

Family history of breast and ovarian cancer and triple negative subtype in hispanic/latina women.

Springerplus 2014 11;3:727. Epub 2014 Dec 11.

Moores Cancer Center, University of California San Diego, 3855 Health Sciences Dr., #0901, La Jolla, CA 92093-0901 USA ; Department of Family and Preventive Medicine, University of California San Diego, La Jolla, CA USA.

Familial breast and ovarian cancer prevalence was assessed among 1150 women of Mexican descent enrolled in a case-only, binational breast cancer study. Logistic regression was conducted to compare odds of triple negative breast cancer (TNBC) to non-TNBC according to family history of breast and breast or ovarian cancer among 914 of these women. Prevalence of breast cancer family history in a first- and first- or second-degree relative was 13.1% and 24.1%, respectively; that for breast or ovarian cancer in a first-degree relative was 14.9%. After adjustment for age and country of residence, women with a first-degree relative with breast cancer were more likely to be diagnosed with TNBC than non-TNBC (OR=1.98; 95% CI, 1.26-3.11). The odds of TNBC compared to non-TNBC were 1.93 (95% CI, 1.26-2.97) for women with a first-degree relative with breast or ovarian cancer. There were non-significant stronger associations between family history and TNBC among women diagnosed at age <50 compared to ≥50 years for breast cancer in a first-degree relative (P-interaction = 0.14) and a first- or second-degree relative (P-interaction = 0.07). Findings suggest that familial breast cancers are associated with triple negative subtype, possibly related to BRCA mutations in Hispanic/Latina women, which are strongly associated with TNBC. Family history is an important tool to identify Hispanic/Latina women who may be at increased risk of TNBC, and could benefit from prevention and early detection strategies.
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http://dx.doi.org/10.1186/2193-1801-3-727DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332916PMC
February 2015

Breast cancer in a RAD51D mutation carrier: case report and review of the literature.

Clin Breast Cancer 2015 Feb 23;15(1):e71-5. Epub 2014 Sep 23.

Moores Cancer Center, University of California, San Diego, La Jolla, CA; Department of Family and Preventive Medicine, University of California, San Diego, School of Medcine, La Jolla, CA. Electronic address:

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http://dx.doi.org/10.1016/j.clbc.2014.08.005DOI Listing
February 2015

Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.

J Natl Compr Canc Netw 2014 Sep;12(9):1326-38

During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.
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http://dx.doi.org/10.6004/jnccn.2014.0127DOI Listing
September 2014

The psychosocial impact of lymphedema-related distress among breast cancer survivors in the WHEL Study.

Psychooncology 2014 Sep 26;23(9):1049-56. Epub 2014 Feb 26.

Moores UCSD Cancer Center, University of California, San Diego, La Jolla, CA, USA.

Objective: Lymphedema is a distressing and chronic condition affecting up to 30% of breast cancer survivors. Using a cross-sectional study design, we examined the impact of self-reported lymphedema-related distress on psychosocial functioning among breast cancer survivors in the Women's Healthy Eating and Living Study. The Women's Healthy Eating and Living Study has a dataset that includes self-report data on lymphedema status, symptoms, and distress.

Methods: Chi-square tests and binary logistic regression models were used to examine how specific participant characteristics, including lymphedema-related distress, were associated with physical health and mental health as measured by the SF-36-Item Health Survey and depressive symptoms assessed by the Center for Epidemiologic Studies Depression Scale screening form.

Results: Of the 2431 participants included in the current study population, 692 (28.5%) self-reported ever having lymphedema. A total of 335 (48.9%) women reported moderate to extreme distress as a result of their lymphedema and were classified as having lymphedema-related distress. The logistic regression models showed that women with lymphedema-related distress had 50% higher odds of reporting poor physical health (p = 0.01) and 73% higher odds of having poor mental health (p < 0.01) when compared with women without lymphedema. In contrast, even though lymphedema-related distress was significantly associated (p = 0.03) with elevated depressive symptoms in the bivariate analyses, it was not significant in the logistic regression models.

Conclusion: Breast cancer survivors with lymphedema-related distress had worse physical health and mental health outcomes than women with lymphedema who were not distressed and women with no lymphedema. Our findings provide further evidence of the relationship between lymphedema and psychosocial outcomes in breast cancer survivors.
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http://dx.doi.org/10.1002/pon.3510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145047PMC
September 2014

Patient compliance with a health care provider referral for an occupational therapy lymphedema consult.

Support Care Cancer 2014 Jul 14;22(7):1781-7. Epub 2014 Feb 14.

Moores UCSD Cancer Center, University of California, San Diego, 3855 Health Sciences Drive, La Jolla, CA, 92093-0901, USA.

Purpose: Limited information exists on breast cancer patients' compliance to attend outpatient appointments with an occupational therapy (OT) lymphedema specialist. The objectives of this study were (1) to examine patient compliance with a health care provider referral for an OT lymphedema consult and (2) to identify potential barriers to compliance.

Methods: A retrospective chart review of female breast cancer patients at the UC San Diego Health System was conducted. Electronic medical records were queried for breast cancer patients, who received a health care provider referral for an OT lymphedema consult between June 1, 2010 and December 31, 2011. Descriptive statistics and Fisher's exact chi-square tests were used to examine how specific participant characteristics were associated with attending an OT appointment.

Results: A total of 210 female patients received an OT referral from a health care provider related to their breast cancer diagnosis. Forty-three (20.5%) patients did not attend an OT appointment. Non-attenders were more likely to have had fewer lymph nodes removed (P<0.01) when compared to attenders. The two most common barriers to attendance were the presence of health problems and undergoing chemotherapy and/or radiation at the time of the OT referral.

Conclusions: While most breast cancer patients attended recommended OT lymphedema consults, a substantial number of women might benefit from further education about OT for lymphedema prevention following breast cancer treatment. Further research to understand barriers to attendance is recommended, particularly among women with only sentinel nodes removed.
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http://dx.doi.org/10.1007/s00520-014-2145-zDOI Listing
July 2014

Is it time to embrace telephone genetic counseling in the oncology setting?

Authors:
Lisa Madlensky

J Clin Oncol 2014 Mar 21;32(7):611-2. Epub 2014 Jan 21.

University of California, San Diego Moores Cancer Center; University of California, San Diego, La Jolla, CA.

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http://dx.doi.org/10.1200/JCO.2013.53.8975DOI Listing
March 2014

Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Res 2013 Dec 10;15(6):R115. Epub 2013 Dec 10.

Introduction: The increasing number of targeted therapies, together with a deeper understanding of cancer genetics and drug response, have prompted major healthcare centers to implement personalized treatment approaches relying on high-throughput tumor DNA sequencing. However, the optimal way to implement this transformative methodology is not yet clear. Current assays may miss important clinical information such as the mutation allelic fraction, the presence of sub-clones or chromosomal rearrangements, or the distinction between inherited variants and somatic mutations. Here, we present the evaluation of ultra-deep targeted sequencing (UDT-Seq) to generate and interpret the molecular profile of 38 breast cancer patients from two academic medical centers.

Methods: We sequenced 47 genes in matched germline and tumor DNA samples from 38 breast cancer patients. The selected genes, or the pathways they belong to, can be targeted by drugs or are important in familial cancer risk or drug metabolism.

Results: Relying on the added value of sequencing matched tumor and germline DNA and using a dedicated analysis, UDT-Seq has a high sensitivity to identify mutations in tumors with low malignant cell content. Applying UDT-Seq to matched tumor and germline specimens from the 38 patients resulted in a proposal for at least one targeted therapy for 22 patients, the identification of tumor sub-clones in 3 patients, the suggestion of potential adverse drug effects in 3 patients and a recommendation for genetic counseling for 2 patients.

Conclusion: Overall our study highlights the additional benefits of a sequencing strategy, which includes germline DNA and is optimized for heterogeneous tumor tissues.
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http://dx.doi.org/10.1186/bcr3584DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978701PMC
December 2013

Colorectal cancer among first-degree relatives of individuals with adenomas: the risk is elevated, but now what?

Cancer 2014 Jan 21;120(1):4-6. Epub 2013 Oct 21.

Section of Gastroenterology, Department of Medicine, Veterans Affairs San Diego Healthcare System, San Diego, California; Department of Internal Medicine, Division of Gastroenterology, University of California at San Diego, La Jolla, California; Moores Cancer Center, University of California at San Diego, La Jolla, California.

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http://dx.doi.org/10.1002/cncr.28429DOI Listing
January 2014

Characteristics of genomic test consumers who spontaneously share results with their health care provider.

Health Commun 2014 5;29(1):105-8. Epub 2013 Feb 5.

a Scripps Genomic Medicine , Scripps Translational Science Institute, Scripps Health.

The purpose of this study was to evaluate the characteristics of direct-to-consumer (DTC) genomic test consumers who spontaneously shared their test results with their health care provider. Utilizing data from the Scripps Genomic Health Initiative, we compared demographic, behavioral, and attitudinal characteristics of DTC genomic test consumers who shared their results with their physician or health care provider versus those who did not share. We also compared genomic risk estimates between the two groups. Of 2,024 individuals assessed at approximately 6 months post testing, 540 individuals (26.5%) reported sharing their results with their physician or health care provider. Those who shared were older (p < .001), had a higher income (p = .01), were more likely to be married (p = .005), and were more likely to identify with a religion (p = .004). As assessed prior to undergoing testing, sharers also reported higher levels of exercise (p = .003), lower fat intake (p = .02), fewer overall concerns about testing (p = .001), and fewer concerns related to the privacy of their genomic information (p = .03). The genomic disease risk estimates disclosed were not associated with sharing. Thus, in a DTC genomic testing context, physicians and other health care providers may be more likely to encounter patients who are more health conscious and have fewer concerns about the privacy of their genomic information. Genomic risk itself does not appear to be a primary determinant of sharing behavior among consumers.
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http://dx.doi.org/10.1080/10410236.2012.717216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3679226PMC
April 2015

Risk factors associated with breast cancer-related lymphedema in the WHEL Study.

J Cancer Surviv 2013 Mar 5;7(1):115-23. Epub 2012 Dec 5.

Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA.

Introduction: Lymphedema is a significant health problem faced by a large percentage of breast cancer survivors. The Women's Healthy Eating and Living (WHEL) Study has a unique dataset collected after the completion of breast cancer treatment, which allowed a focused analysis of risk factors for breast cancer-related lymphedema.

Methods: Participant characteristics, treatment modalities, and health behaviors were examined as potential predictors of lymphedema among breast cancer survivors with univariate analyses and multivariate logistic regression.

Results: Lymphedema status was assessed for 83 % of the study cohort (2,431 of the 2,917 WHEL participants). Among these respondents, 692 (28.5 %) women reported yes to either a physician's diagnosis of lymphedema or a question on arm/hand swelling. When compared to other participants, women with lymphedema were diagnosed at a younger age, more likely to have a higher body mass index, had a larger tumor size, had more lymph nodes removed, more likely to have a mastectomy with radiation therapy, and more likely to have chemotherapy. In the final multivariate-adjusted model, body mass index greater than 25 kg/m(2) (p < 0.01), the removal of 11 or more lymph nodes (p < 0.01), and breast cancer surgery plus radiation therapy (p < 0.01) showed a strong independent association with developing breast cancer-related lymphedema.

Conclusions: The results of this study highlight the importance of educating breast cancer survivors about the modifiable risk factors (e.g., body mass index) associated with the development of lymphedema.

Implications For Cancer Survivors: Breast cancer survivors at risk for lymphedema may benefit from interventions aimed at achieving or maintaining a healthy body weight.
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http://dx.doi.org/10.1007/s11764-012-0251-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568206PMC
March 2013

Physician-patient and patient-family communication after colonoscopy.

Am J Gastroenterol 2012 Sep;107(9):1288-95

Department of Family and Preventive Medicine, University of California, San Diego, La Jolla, CA 92093-0901, USA.

Objectives: A personal or family history of colorectal adenomas increases the risk of colorectal cancer (CRC). We aimed to compare physicians' communication with polyp patients vs. non-polyp patients, assess whether polyps or CRC family history were associated with physician-patient communication, and describe patients' disclosure of colonoscopy and polyp diagnosis to their relatives.

Methods: Four hundred nine patients completed an online survey regarding physician-patient communication of colonoscopy results, perceived personal and familial risk of polyps and CRC, and disclosure of colonoscopy results to relatives.

Results: Six percent of participants reported that their physicians discussed familial risks. Polyp diagnosis and family history predicted physician-patient discussions about familial CRC risks. Polyp diagnosis predicted physician-patient discussions of future surveillance. Twenty-two percent of patients told none of their relatives that they had a colonoscopy. Family history, gender, and education were associated with patient-family communication.

Conclusions: There is room for improvement in physician-patient and patient-family communication following colonoscopy.
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http://dx.doi.org/10.1038/ajg.2012.55DOI Listing
September 2012

Prognosis following the use of complementary and alternative medicine in women diagnosed with breast cancer.

Complement Ther Med 2012 Oct 27;20(5):283-90. Epub 2012 Apr 27.

Cancer Prevention and Control Program, Rebecca and John Moores UCSD Cancer Center, University of California-San Diego, La Jolla, CA 92093-0901, United States.

Objective: The purpose of this study was to assess whether CAM use affected breast cancer prognosis in those who did not receive systemic therapy.

Design: Secondary data analysis of baseline/survey data from the Women's Healthy Eating and Living (WHEL) study. 2562 breast cancer survivors participating in the study completed baseline assessments and a CAM use questionnaire. Cox regression models were conducted to evaluate the use of CAM modalities and dietary supplements on time to an additional breast cancer event (mean follow-up=7.3 years).

Setting: A US-based multi-site randomized dietary trial.

Outcome: Time to additional breast cancer events.

Results: The women who did not receive any systemic treatment had a higher risk for time to additional breast cancer events (HR=1.9, 95% CI: 1.32, 2.73) and for all-cause mortality (HR=1.7, 95% CI: 1.06, 2.73) compared to those who had received systemic treatment. Among 177 women who did not receive systemic treatment, CAM use was not significantly related to additional breast cancer events. There were no significant differences between high supplement users (≥3 formulations per day) and low supplement users in either risk for additional breast cancer events.

Conclusion: The risk for an additional breast cancer event and/or death was higher for those who did not receive any systemic treatments; the use of dietary supplements or CAM therapies did not change this risk. This indicates that complementary and alternative therapies did not alter the outcome of breast cancer and should not be used in place of standard treatment.
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http://dx.doi.org/10.1016/j.ctim.2012.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413169PMC
October 2012

Genomic information as a behavioral health intervention: can it work?

Per Med 2011 Nov;8(6):659-667

Scripps Genomic Medicine, Scripps Translational Science Institute & Scripps Health, 3344 N Torrey Pines Court, Suite 300, La Jolla, CA 92037, USA.

Individuals can now obtain their personal genomic information via direct-to-consumer genetic testing, but what, if any, impact will this have on their lifestyle and health? A recent longitudinal cohort study of individuals who underwent consumer genome scanning found minimal impacts of testing on risk-reducing lifestyle behaviors, such as diet and exercise. These results raise an important question: is personal genomic information likely to beneficially impact public health through motivation of lifestyle behavioral change? In this article, we review the literature on lifestyle behavioral change in response to genetic testing for common disease susceptibility variants. We find that only a few studies have been carried out, and that those that have been done have yielded little evidence to suggest that the mere provision of genetic information alone results in widespread changes in lifestyle health behaviors. We suggest that further study of this issue is needed, in particular studies that examine response to multiplex testing for multiple genetic markers and conditions. This will be critical as we anticipate the wide availability of whole-genome sequencing and more comprehensive phenotyping of individuals. We also note that while simple communication of genomic information and disease susceptibility may be sufficient to catalyze lifestyle changes in some highly motivated groups of individuals, for others, additional strategies may be required to prompt changes, including more sophisticated means of risk communication (e.g., in the context of social norm feedback) either alone or in combination with other promising interventions (e.g., real-time wireless health monitoring devices).
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http://dx.doi.org/10.2217/pme.11.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244209PMC
November 2011

Latino parenting practices: a comparison of parent and child reports of parenting practices and the association with gateway drug use.

J Ethn Subst Abuse 2011 ;10(1):71-89

Department of Health Science, BrighamYoung University, UT 84602, USA.

Parent and adolescent self-reports are the most common sources for measuring parenting practices. This study's purpose was to compare how parent and adolescent reports of parenting behaviors differentially predict adolescent gateway drug use. The sample consisted of 252 Latino adolescent-parent dyads. After controlling for potential confounding influences, only adolescents' reports about their parents' parenting behaviors were significant and explained 38% of the variance in gateway drug use. Practitioners may recommend to parents seeking parenting advice that they solicit feedback from their adolescent to ensure parenting efforts are received in the manner they were intended.
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http://dx.doi.org/10.1080/15332640.2011.547800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880251PMC
July 2011

Classification of CAM use and its correlates in patients with early-stage breast cancer.

Integr Cancer Ther 2011 Jun 7;10(2):138-47. Epub 2011 Mar 7.

UCSD Moores Cancer Center, La Jolla, CA 92093-0901, USA.

Hypothesis: Self-reported use of complementary and alternative medicine (CAM) has been shown to increase following a cancer diagnosis, and breast cancer survivors are the heaviest users among cancer survivors. The aim of this study was to determine whether the prevalence estimate of CAM use varied according to classification of CAM. The authors used a comprehensive system to classify CAM users and test differences in demographic, lifestyle, quality of life, and cancer characteristics among them.

Study Design And Methods: Participants were 2562 breast cancer survivors participating in the Women's Healthy Eating and Living (WHEL) Study, aged 28 to 74 years. A structured telephone interview assessed CAM use, questioning about specific CAM practices, and whether use was related to cancer. This study examined CAM use in relation to demographics, health behaviors, and quality of life.

Results: Approximately 80% of the women used CAM for general purposes but only 50% reported CAM use for cancer purposes. Visual imagery, spiritual healing, and meditation were the most frequently used practices for cancer purposes. CAM use, defined as consulting a CAM practitioner and regular use, was significantly related to younger age, higher education, increased fruit and vegetable intake, and lower body mass index (P < .05). CAM users who had seen a practitioner were also more likely to report poor physical and mental health than non-CAM users (P < .05). CAM use was not associated with changes in physical and mental health between study baseline and 1-year follow-up.

Conclusion: This study addressed important differences in the classification of CAM use among breast cancer survivors. Future studies need to further test the potential benefits and risks associated with CAM use.
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http://dx.doi.org/10.1177/1534735410392578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126886PMC
June 2011

Young breast cancer survivors: their perspectives on treatment decisions and fertility concerns.

Cancer Nurs 2011 Jan-Feb;34(1):32-40

Cancer Prevention and Control Program, Moores UCSD Cancer Center, University of California, San Diego, La Jolla, California, USA.

Background: Younger women diagnosed with breast cancer are more likely to have survival concerns related to fertility, which may influence their treatment decisions.

Objective: This qualitative study explores how young women make cancer treatment decisions and the role of fertility concerns in that process.

Methods: We used purposeful sampling to identify a diverse group of 20 young breast cancer survivors, half of whom had a child after breast cancer. We conducted open-ended telephone interviews and used cross-case, inductive analysis to identify themes.

Results: The main themes were (1) "I was young, I wanted to do everything possible to move forward with my life and not to have the cancer come back"; (2) "Fertility concerns are different for every woman"; (3) "My oncologist was great… a huge part of my survivorship"; and (4) "They didn't tell me about my options, and I didn't think about fertility until it was too late."

Conclusions: Although fertility was important to many participants, treatment decisions were mainly motivated by survival concerns. Fertility concerns depended on life circumstances, and the timing in relation to diagnosis varied. There is a need for improved information regarding the impact of treatment on fertility and fertility preservation options, even if concerns are not expressed at diagnosis.

Implications For Practice: It is critical that cancer care providers provide timely information regarding fertility. Oncology nurses are particularly well positioned to serve this role by communicating with patients about their fertility concerns and reproductive planning prior to treatment and throughout the course of survivorship.
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http://dx.doi.org/10.1097/NCC.0b013e3181e4528dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2980796PMC
March 2011

Job satisfaction in cancer prevention and control: a survey of the American Society of Preventive Oncology.

Cancer Epidemiol Biomarkers Prev 2010 Aug;19(8):2110-2

Lombardi Comprehensive Cancer Center, Georgetown University, 3300 Whitehaven Street Northwest, Washington, DC 20007, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-10-0629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031912PMC
August 2010

Physical and mental health correlates of pregnancy following breast cancer.

Psychooncology 2010 May;19(5):517-24

Cancer Prevention and Control Program, Moores UCSD Cancer Center, University of California, La Jolla, San Diego, CA 92093-0901, USA.

Introduction: The safety of pregnancy after breast cancer is an important issue for many younger breast cancer survivors and their health care providers. Current research does not indicate that pregnancy negatively affects survival, but the 'healthy mother bias,' suggesting that survivors who go on to become pregnant are a self-selected healthier group based on their prognosis, has led to cautious interpretation of these findings. No studies have systematically evaluated the potential for this bias.

Methods: This nested case-control study includes 81 younger participants from the Women's Healthy Eating and Living (WHEL) study (N=3088). Our sample includes 27 cases who had children after breast cancer and 54 controls, matched on age and stage at diagnosis. We used hierarchical linear modeling to accommodate longitudinal data with individuals nested within matched sets (cases and controls). The primary aim was to evaluate the association between summary scores of health and childbearing after breast cancer. Covariates were added for adjustment and to improve model precision.

Results: Controlling for other variables in the model, physical health scores were not different between cases and controls (B=0.14, p=0.96). Mental health scores were marginally higher among cases (B=6.40, p=0.08), as compared with controls, a difference considered clinically significant.

Conclusion: This preliminary study did not find evidence of a healthy mother bias based on physical health. However, mental health was 6 points higher (p=0.08) among those who had children, indicating that the role of mental health needs evaluation in future research. Larger studies are needed to verify these findings.
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http://dx.doi.org/10.1002/pon.1614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861788PMC
May 2010