Kurian, A. W., Ward, K. C., Howlader, N., Deapen, D., Hamilton, A. S., Mariotto, A., Miller, D., Penberthy, L. S., Katz, S. J. Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. Adverse events reduce this gain to 0.44 QALYs and after discounting, gains are 0.20 QALYs (73days)/woman. There was no evidence of increased breast cancer risk for noncarriers of identified mutations compared with FDRs from families without BRCA1 or BRCA2 mutations: relative risk was 0.39 (95% CI, 0.04 to 3.81). This multicenter, randomized, double-blind study evaluated the efficacy, safety, and Liang, S., Richardson, M., Chen, T., Colocci, N., Kurian, A., de Briun, M., Chan, C., Chan, J. Twenty-one-gene recurrence score (RS) in germline (g)CHEK2 mutation-associated versus sporadic breast cancers (BC): A multi-site case-control study. This information is crucial for modeling effective stratified screening programs. No association was observed for breast cancer-specific mortality. Given the specialized counseling and testing needs of patients with Li-Fraumeni syndrome, and the implications for targeted screening strategies if a mutation is found, referral to a cancer genetics expert is strongly recommended. These 750 variants included technically challenging classes of sequence and copy number variation that together represent a significant fraction (13.4%) of the pathogenic variants observed. Participants carried an average of 2.1 variants of uncertain significance among 42 genes.Among women testing negative for BRCA1/2 mutations, multiple-gene sequencing identified 16 potentially pathogenic mutations in other genes (11.4%; 95% CI, 7.0% to 17.7%), of which 15 (10.6%; 95% CI, 6.5% to 16.9%) prompted consideration of a change in care, enabling early detection of a precancerous colon polyp. Stanford is currently not accepting patients for this trial. Thomas Kurian married a woman from Boston in typical style. Thomas Kurian was born to P.C. Conclusion:These results may inform future treatment guidelines for breast cancer patients with a history of diabetes or MI. For all-cause mortality, even stronger BMI and WHR associations were observed. [14], American Society for Clinical Investigation, "Researchers 'lase' a trail to early detection of breast tumors", "Risk of breast cancer mutations underestimated for Asian women, Stanford study shows", "No higher risk of breast cancer for women who don't have BRCA mutation but have relatives who do", "Online tool helps those with BRCA mutations understand options", "New Research Findings on Breast Cancer Surgery Survival Rates", "Ovarian cancer patients undertested for mutations that could guide clinical care", https://en.wikipedia.org/w/index.php?title=Allison_Kurian&oldid=1034572796, This page was last edited on 20 July 2021, at 17:12. The prevalence in risk factors was similar between foreign-born and U.S.-born women in the younger birth cohort, and did not fully explain the observed associations with birthplace and other migration characteristics.In contrast to studies from earlier decades, younger foreign-born Asian American women had a higher risk of breast cancer than U.S.-born Asian American women.It is important and urgent to understand what factors drive the increasing burden of breast cancer in women of Asian descent and implement effective prevention programs. We analyzed survival using multivariable Cox proportional hazards regression with follow-up through 2010.After consideration of tumor stage, subtype, comorbidity, and type of treatment received, non-Hispanic White women living in low-SES neighborhoods (hazard ratio [HR]=1.28; 95% confidence interval [CI]=1.07, 1.52) and African Americans regardless of neighborhood SES (high SES: HR=1.44; 95% CI=1.01, 2.07; low SES: HR=1.88; 95% CI=1.42, 2.50) had worse overall survival than did non-Hispanic White women living in high-SES neighborhoods. All rights reserved. Potential effects of misclassification of comorbidity status should be considered in the interpretation of research results. Meta-analyses were conducted to combine the results from these two datasets.Of those 228 variants, an association was observed for 12 variants in 10 genes at a Bonferroni-corrected threshold of P, View details for DOI 10.1016/j.ebiom.2019.09.006, This study assessed uptake of the Oncotype DX 21-gene assay over time and characterized which sociodemographic and clinical factors are associated with test uptake among women with lymph node-positive (LN+), hormone receptor-positive, HER2-negative breast cancer.Invasive breast cancer cases diagnosed in 2010 through 2013 were included from a SEER database linked to 21-gene assay results performed at Genomic Health's Clinical Laboratory. Kurian, A. W., Hughes, E., Handorf, E. A., Gutin, A., Allen, B., Hartman, A. R., Hall, M. J. Pathogenic germline mutations in emerging cancer genes: What happens after panel testing? We developed an online tool to guide decisions about cancer risk reduction (available at: http://brcatool.stanford.edu ), and recruited patients and clinicians to test its feasibility. We measured testing trends, rates of variants of uncertain significance (VUS), and pathogenic variants (PVs).One quarter (25.2%) of 187,535 patients with breast cancer and one third (34.3%) of 14,689 patients with ovarian cancer were tested; annually, testing increased by 2%, whereas the number of genes tested increased by 28%. View details for Web of Science ID 000318174800096. Given the high utilization of mobile technologies, even among underserved populations and in low resource areas, mobile apps may provide a meaningful access point for all stakeholders for symptom management.We aimed to develop a mobile app incorporating user preferences to enable cancer survivors' care partners to monitor the survivors' health and to provide care partner resources.An iterative information gathering process was conducted that included (1) discussions with 138 stakeholders to identify challenges and gaps in survivor home care; (2) semistructured interviews with clinicians (n=3), cancer survivors (n=3), and care partners (n=3) to identify specific needs; and (3) a 28-day feasibility field test with seven care partners.Health professionals noted the importance of identifying early symptoms of adverse events. Heidi Berger and Daniel Ricciardo Are They Still Together? Surgery after initial lumpectomy declined by 16% (P. 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. Furthermore, additional familial testing would be considered for those with first-degree relatives (42 [72%] of 58; 95% CI, 59.8%-82.2%) based on potential management changes for mutation-positive relatives. Subjects will be assigned to Kurian, A. W., Sigal, B. M., Plevritis, S. K. Second Primary Breast Cancer Occurrence According to Hormone Receptor Status. We prospectively enrolled 1046 individuals who were appropriate candidates for HBOC evaluation and who lacked BRCA1/2 mutations.We carried out multigene panel testing on all participants, then determined the clinical actionability, if any, of finding non-BRCA1/2 mutations in these and additional comparable individuals.We evaluated the likelihood of (1) a posttest management change and (2) an indication for additional familial testing, considering gene-specific consensus management guidelines, gene-associated cancer risks, and personal and family history.Among 1046 study participants, 40 BRCA1/2-negative patients (3.8%; 95% CI, 2.8%-5.2%) harbored deleterious mutations, most commonly in moderate-risk breast and ovarian cancer genes (CHEK2, ATM, and PALB2) and Lynch syndrome genes. Mantz, A. Oncologists were much more likely to order RS if patient preferences were discordant with their recommendations (67.4%, 95% CI=61.7% to 73.0%, vs 17.5%, 95% CI=13.1% to 22.0%, concordant), and they adjusted recommendations based on patient preferences and RS results.For both node-negative/micrometastasis and node-positive patients, chemotherapy receipt and oncologists' recommendations for chemotherapy declined markedly over time, without substantial change in practice guidelines. Better risk communication by clinicians may translate to better risk comprehension among patients and to improvements in QoL. and help prevent the tumor from returning. In case-control analysis, CDH1 and BRCA2 PVs were associated with high risks of ILC (odds ratio [OR] > 4) and CHEK2, ATM, and PALB2 PVs were associated with moderate (OR = 2-4) risks. View details for DOI 10.1093/jncics/pky062. To examine the temporal trajectory of insurance coverage for next-generation tumor sequencing (sequencing) by private US payers, describe the characteristics of coverage adopters and nonadopters, and explore adoption trends relative to the Centers for Medicare and Medicaid Services' National Coverage Determination (CMS NCD) for sequencing.We identified payers with positive coverage (adopters) or negative coverage (nonadopters) of sequencing on or before April 1, 2019, and abstracted their characteristics including size, membership in the BlueCross BlueShield Association, and whether they used a third-party policy. View details for DOI 10.1016/j.gim.2021.11.008. View details for DOI 10.1200/JCO.2015.63.5524. PURPOSE: This clinical trial studies factors influencing decision-making about the use of In this equal-access healthcare system, chemotherapy use followed practice guidelines, but varied by race and socio-demographic factors. These hospital and neighborhood characteristics were also associated with BCS without radiation. (T-DM1) administered by intravenous (IV) infusion in combination with paclitaxel (and Circulating tumor cells (CTCs) are rare cells found in the blood of patients with solid tumors and may play a key role in cancer dissemination. Conclusion: Nab-paclitaxel and paclitaxel monotherapy showed similar efficacy, suggesting their interchangeability as 1L treatments for mTNBC. A., Lipson, J. These chromatin alterations are reflected in transcriptional profiles of pre-malignant tissues from BRCA2 carriers and, therefore, may reflect naturalsteps in human disease. Clinical data and pathologic characteristics were collected.BRCA1/2 status was the outcome in a logistic regression, and cancer diagnoses were the independent predictors. metastatic triple-negative breast cancer (TNBC) who have not received prior systemic therapy Further studies are needed to assess patient understanding and subsequent cancer screening among patients from diverse backgrounds.Multigene panel tests for hereditary cancer have become widespread despite concerns about adverse psychological reactions among carriers of moderate-risk pathogenic variants (mutations) and among carriers of variants of uncertain significance. Information regarding NAC, adjuvant chemotherapy (aCT), breast conserving surgery (BCS), bilateral mastectomy (BLM), and unilateral mastectomy (ULM) was abstracted from the medical records. Half (54.7%) used AIs only, 27.6% used tamoxifen only and 17.7% used both tamoxifen and AIs sequentially. The intent of vaccination is to induce a combined antibody and T-cell anti-HER-2 immune The Accuracy of BRCA1/2 Mutation Prediction Models in Different Ethnicity and Gender: Experience in a Chinese Cohort, Kwong, A., Wong, C., Suen, D., Choi, C., Wong, C., Law, F., Kurian, A. W., et al, A High Percentage of Triple Negative Tumors Present as Palpable Masses. A search engine designed to express complex electronic phenotypes from longitudinal patient records enables the identification of variability in patient care, helping to define disparities and areas for improvement. ", "New World Pioneers. A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. In this report, we describe a natural language processing (NLP) framework that uses data from free-text, unstructured reports to classify recurrence status and sites of recurrence for patients with breast and hepatocellular carcinomas (HCC).Using two cohorts of breast cancer and HCC cases, we validated the ability of a previously developed NLP model to distinguish between no recurrence, local recurrence, and distant recurrence, based on clinician notes, radiology reports, and pathology reports compared with manual curation. Zeidman, A., Benedict, C., Tolby, L., Zion, S., Fisher, S., Kurian, A. W., Berek, J. S., Woldeamanuel, Y., Schapira, L., Palesh, O. Patients (N=37349) had RS results of whom 714 had BRCA1, BRCA2, CHEK2, ATM, PALB2, or Lynch syndrome (MLH1, MSH2, MSH6, PMS2) PVs. We used multiplexed ion beam imaging by time-of-flight (MIBI-TOF) to simultaneously quantify in situ expression of 36 proteins covering identity, function, and immune regulation at sub-cellular resolution in 41 triple-negative breast cancer patients. to placebo plus carboplatin and paclitaxel in subjects with BRCA1 or BRCA2 mutation and Rates were stable from 2004 to 2009 (APC, 0.1%; 95% CI, -0.5% to 0.8%) but declined 1.5% annually from 2009 to 2016 (95% CI, -1.9% to -1.1%). Similar trends were observed in women who had seen a surgeon/oncologist (APC, -1.7%; 95% CI, -2.1% to -1.4%) or a primary care provider (APC, -1.6%; 95% CI, -2.1% to -1.2%) in the prior year.Surveillance mammography participation among breast cancer survivors declined from 2009 to 2016, most notably among women aged 40 to 49 years. A., Trentham-Dietz, A. n., Vachon, C. M., Weinberg, C. n., Yao, S. n., Ziogas, A. n., Weitzel, J. N., Goldgar, D. E., Domchek, S. M., Nathanson, K. L., Kraft, P. n., Polley, E. C., Couch, F. J. Karimi, Y. H., Kurian, A. W., Blayney, D. W., Banerjee, I. Similar patterns were seen for BC-specific mortality. Morrow, M. n., Abrahamse, P. n., Hofer, T. P., Ward, K. C., Hamilton, A. S., Kurian, A. W., Katz, S. J., Jagsi, R. n. NCCN Guidelines (R) Insights Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017 Featured Updates to the NCCN Guidelines. Taking these factors into account can be useful when setting laboratory benchmarks and assessing test quality. Risk of all histologic types was unassociated with age at menarche, age at menopause, a history of infertility, noncontraceptive estrogen use, and alcohol consumption.The most important modifiers of ovarian cancer risk (parity and oral contraceptive use) showed similar associations across the histologies. Compared with patient-mediated contact, direct relative contact increased rates of cascade genetic counseling and testing, arguing for a shift in the care delivery paradigm, to be confirmed by randomized controlled trials. However, little is known about cancer-specific mortality among carriers of a pathogenic variant (PV) in BRCA1/2 or other genes in a population-based setting.Georgia and California Surveillance Epidemiology and End Results (SEER) registry records were linked to clinical genetic testing results. RATIONALE: Learning about how patients make decisions about using chemoprevention may help A local relapse biopsy four months later revealed the identical reversion mutation, and the patient subsequently died of metastatic breast cancer.We report a BRCA1 reversion mutation in a newly diagnosed triple-negative breast cancer patient that developed over 18 weeks of platinum-based neoadjuvant therapy. View details for DOI 10.1038/s41598-020-65665-y. Oncol. Compliance with guidelines and factors associated with ordering the 21-gene breast cancer assay. Among them, 60 were from cases having concurrent or subsequent invasive breast cancer (IBC) (DCIS+IBC group), and 65 from cases with no IBC development over a median follow-up of 13years (DCIS-only group). The four recurrent BRCA1 mutations (c.470_471delCT, c.3342_3345delAGAA, c.5406+1_5406+3delGTA and c.981_982delAT) accounted for 34.5% (10/29) of all BRCA1 mutations in this cohort. Residual breast cancer correlation within families was strong, suggesting substantial risk heterogeneity in women without BRCA1 or BRCA2 mutations, with some 3.4% of them accounting for roughly one third of breast cancer cases.These results support the practice of advising noncarriers that they do not have any increase in breast cancer risk attributable to the family-specific BRCA1 or BRCA2 mutation. Potentially actionable results were disclosed to participants.In total, 198 women participated in the study: 174 had breast cancer and 57 carried germline BRCA1/2 mutations. Now you may have guessed thatThomas Kurian net worth is not less than millions of dollars. However, when restricting to diagnoses 1996 or later and adjusting for a larger set of covariates, risk was attenuated (HR 0.86, 95% CI 0.52-1.42).Among California breast cancer patients diagnosed from 1988-2013, nipple-sparing mastectomy was not associated with worse survival than non-nipple-sparing mastectomy. View details for DOI 10.1093/jnci/djab151. He also receivedan MBA fromStanford Universitys Graduate School of Business. The impact of these disruptions on patient experiences remain relatively understudied. Weldon, C. B., Trosman, J. R., Liang, S. Y., Douglas, M. P., Scheuner, M. T., Kurian, A., Schaa, K. L., Roscow, B., Erwin, D., Phillips, K. A. Screening mammography and magnetic resonance imaging (MRI) are recommended for women with ATM, CHEK2, and PALB2 pathogenic variants. Kwong, A., Wong, C. H., Suen, D. T., Co, M., Kurian, A. W., West, D. W., Ford, J. M. Breast Cancer Risk for Noncarriers of Family-Specific BRCA1 and BRCA2 Mutations: More Trouble With Phenocopies Reply, Occurrence of breast cancer subtypes in adolescent and young adult women. The Phase Ellisen, L., Kurian, A., Lincoln, S., Desmond, A., Mills, M., Shannon, K., Gabree, M., Anderson, M., Kobayashi, Y., Monzon, F., Ford, J. However, each patient (6 of 6, 100%) was found to have multiple foci of T1 invasive diffuse gastric adenocarcinoma (pure signet-ring cell type). Our study is a step toward systematic temporal research of coverage for precision medicine, which will inform policy and affordability assessments. We calculated frequencies of breast cancer subtypes among Asian ethnic groups and evaluated their associations with clinical and demographic factors. 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