Afghahi, A., Forgo, E., Mitani, A., Desai, M., Varma, S., Seto, T., Jensen, K. C., Gomez, S., Das, A. K., Beck, A. H., Kurian, A. W., West, R. B. Caswell-Jin, J. L., Callahan, A., Purington, N., Han, S. S., Itakura, H., John, E. M., Blayney, D. W., Sledge, G. W., Shah, N. H., Kurian, A. W. Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model. All women were of European ancestry.For pregnanediol-3-glucuronide, there were no genome-wide significant associations; for oestrone-3-glucuronide, we identified a single peak mapping to the CYP3A locus, annotated by rs45446698. We assessed patient perceptions of doctor communication of risk of recurrence (i.e., amount, approach, inquiry about worry). locally recurrent or metastatic breast cancer. Median survival improved over time, but varied substantially across race/ethnicity (Asians: 34months; African Americans: 6months), neighborhood socioeconomic status (SES) (highest: 34months, lowest: 20months), and molecular subtype (HR+/HER2+: 45months; triple negative: 12months). A Phase 2, 2-Stage, 2-Cohort Study of Talazoparib (BMN 673), in Locally Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (ABRAZO Study). There they both took SAT tests and sent the results to various colleges, including Princeton University, which offered both of them partial scholarship places. With these tumor features, a woman like this will have a 28% probability of having an RS 16-20, 18% RS 21-25, and 11% RS 26+. veliparib in combination with TMZ or in combination with carboplatin and paclitaxel compared Among 2,744 ascertained deaths, 1,445 were related to breast cancer. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide recommendations for genetic testing and counseling for hereditary cancer syndromes, and risk management recommendations for patients who are diagnosed with syndromes associated with an increased risk of these cancers. In the randomized Phase Older age was associated with endocrine therapy first, less frequent imaging, and less use of tumor markers. This randomized phase III trial studies doxorubicin hydrochloride, cyclophosphamide, and Genetic testing is important for breast and ovarian cancer risk reduction and treatment, yet little is known about its evolving use.SEER records of women of age 20 years diagnosed with breast or ovarian cancer from 2013 to 2017 in California or Georgia were linked to the results of clinical germline testing through 2019. Data analyses were conducted using chi-square and t tests. The purpose of this 2-stage, 2-cohort Phase 2 trial is to evaluate the safety and efficacy of Petkov, V. I., Howlader, N., Cronin, K., Kurian, A. W., Penberthy, L. Dissemination of 21-gene assay testing among female breast cancer patients in the US. Kurian, A. W., Bernhisel, R. n., Larson, K. n., Caswell-Jin, J. L., Shadyab, A. H., Ochs-Balcom, H. n., Stefanick, M. L. Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients. Large-scale genotyping studies have identified common variants (primarily single-nucleotide polymorphisms [SNPs]) with individually modest breast cancer risk that, in aggregate, account for considerable breast cancer susceptibility. Between racial/ethnic groups, there are important differences in the spectrum of BRCA1 compared with BRCA2 mutations, in BRCA1/2 variants of uncertain significance, and in the accuracy of clinical models that predict BRCA1/2 mutation carriage.Given the significant prevalence of BRCA1/2 mutations across race/ethnicity, there is a need to expand and customize genetic counseling, genetic testing, and follow-up care for members of all racial/ethnic groups. Dr. Kurian's research has been supported by the National Cancer Institute, Susan G. Komen for the Cure, the American Society of Clinical Oncology, the California Breast Cancer Research Program, the Cancer Research and Prevention Foundation, the Robert Wood Johnson Foundation, the Breast Cancer Research Foundation and the BRCA Foundation.As Director of the Stanford Womens Clinical Cancer Genetics Program, Dr. Kurian focuses her clinical practice on women at high risk for developing breast and gynecologic cancers. Magnitude of invasive breast cancer (BC) risk associated with mutations detected by multiple-gene germline sequencing in 95,561 women. Lin, C. Y., Vennam, S. n., Purington, N. n., Lin, E. n., Varma, S. n., Han, S. n., Desa, M. n., Seto, T. n., Wang, N. J., Stehr, H. n., Troxell, M. L., Kurian, A. W., West, R. B. Chromatin Remodeling in Response to BRCA2-Crisis. E-cadherin (CDH1) truncating mutations have been shown to be present in approximately 30% of families with hereditary diffuse gastric cancer (HDGC) and are associated with a significantly increased risk of gastric cancer and lobular breast cancer.Individuals from a large kindred with HDGC who were identified to have a CDH1 mutation prospectively underwent comprehensive screening with stool occult blood testing, standard upper gastrointestinal endoscopy with random gastric biopsies, high-magnification endoscopy with random gastric biopsies, endoscopic ultrasonography, CT, and PET scans to evaluate the stomach for occult cancer. Multifactorial-risk-prediction tools have the potential to deliver personalised risk estimates. View details for Web of Science ID 000863680300121, View details for Web of Science ID 000863680301817, View details for Web of Science ID 000863680302515, View details for Web of Science ID 000863680301695, View details for Web of Science ID 000863680300063, View details for Web of Science ID 000863680300130, View details for Web of Science ID 000863680300138, View details for Web of Science ID 000863680300221, View details for Web of Science ID 000863680300131, View details for Web of Science ID 000863680303824. By integrating complementary data from EMRs and population-based registries, a more comprehensive understanding of breast cancer care and factors that drive treatment use was obtained. Kurian, A. W., Lichtensztajn, D. Y., Keegan, T. H., Nelson, D. O., Clarke, C. A., Gomez, S. L. Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment. Among de novo stage IV disease, women with HR+/HER2+ subtype experienced better survival than those with HR+/HER2- subtype (45.5% vs 35.9%), even after controlling for other factors.Divergence of survival curves in stage IV HR+/HER2+ vs. HR+/HER2- subtype is likely attributable to major advances in HER2-targeted treatment.Contrary to conventional thought, HR+/HER2+ subtype experienced better survival than HR+/HER2- in advanced stage disease. To estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2.The study population included 15,104 prospectively followed women within the CARRIERS study treated with ipsilateral surgery for invasive breast cancer. Adding BMI or height to weight did not improve fit (AIC=0.90 and 0.83, respectively; both P=0.3). Nevertheless, the unique associations seen for other modifiers support the conjecture that the histologic types of epithelial ovarian cancer have different etiologies, which should be addressed in future investigations of the molecular basis of ovarian cancers and their responses to therapies. He is also charged with . He has an identical twin, George also a Silicon Valley executive. I lead epidemiologic studies of cancer risk factors, clinical trials of novel approaches to cancer risk reduction, and decision analyses of strategies to optimize cancer outcomes. Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome. We examined patterns and correlates of genetic counseling and testing and the impact of results on bilateral mastectomy (BLM) use. Similar to IDC, multigene panel testing may be appropriate for women with ILC, but CDH1 should be specifically discussed because of low prevalence and gastric cancer risk. However, epidemiologic studies on circulating melatonin are limited because melatonin is secreted at night, yet most epidemiologic studies collect blood during the day when melatonin levels are very low, and assays are lacking that are ultrasensitive to detect low levels of melatonin reliably.To assess the performance of a refined radioimmunoassay in measuring morning melatonin among women.We used morning serum samples from 47 postmenopausal women ages 48-80 years without a history of breast cancer who participated in the San Francisco Bay Area Breast Cancer Study, including 19 women who had duplicate measurements. If a patient with higher pretest risk saw a surgeon at the 5th percentile of the surgeon distribution, she would have a 26.3% (95% CI, 21.9%-31.2%) probability of testing compared with 72.3% (95% CI, 66.7%-77.2%) if she saw a surgeon at the 95th percentile.In this study, the attending surgeon was associated with the receipt of genetic testing after a breast cancer diagnosis. Early life [ edit] Thomas Kurian was born to P.C. A combined risk score (CRS) of an 86-single-nucleotide polymorphism polygenic risk score and the Tyrer-Cuzick v7.02 clinical risk estimator was generated with attenuation for confounding by family history. View details for DOI 10.1371/journal.pone.0043994, View details for Web of Science ID 000308462000010, View details for PubMedCentralID PMC3436879, The prevalence and penetrance of BRCA1 and BRCA2 (BRCA1/2) mutations may differ between Asians and whites. In our analytic sample (N=927), we assessed factors correlated with both types of overestimation and report multivariable associations between overestimation and QoL (PROMIS physical & mental health) and frequent worry.30.4% of women substantially overestimated their risk of distant recurrence numerically and 14.7% descriptively. adjuvant chemotherapy. Fourteen participants carried 15 pathogenic variants, warranting a possible change in care; they were invited for targeted screening recommendations, enabling early detection and removal of a tubular adenoma by colonoscopy. Residential addresses were linked to the CNDS to characterize neighborhoods. We compare methods to develop an adaptive strategy for therapy choice in a class of breast cancer patients, as an example of approaches to personalize therapies for individual characteristics and each patient's response to therapy. Breast cancer is a common manifestation of an underlying genetic susceptibility to cancer, and 5% to 10% of all breast cancers are associated with a germline mutation in a known risk allele. Thomas Kurian, Google Cloud - Rs 10,600 crore A force to reckon with in the tech space, Thomas Kurian amassed a net worth of Rs 10,600 crore in 2019.. Ling, A. Y., Kurian, A. W., Caswell-Jin, J. L., Sledge, G. W., Shah, N. H., Tamang, S. R. Can precision medicine help achieve the goal of reducing care when the risks exceed the benefits? Patients with triple-negative breast cancer (TNBC), defined as lacking expression of the estrogen and progesterone receptors (ER/PR) and amplification of the HER2 oncogene, often have a more aggressive disease course than do patients with hormone receptor-positive breast cancer, including higher rates of visceral and central nervous system metastases, early cancer recurrences and deaths. The coefficient of variation (CV) and intraclass coefficient (ICC) were estimated using the random effect model.Reproducibility for the assay was satisfactory, with a CV of 11.2% and an ICC of 98.9%; correlation between the replicate samples was also high (R = 0.96). Surprisingly, safety-net clinics reported few barriers to testing related to cost, largely due to laboratory assistance with prior authorization requests and patient payment assistance programs that result in little to no patient out-of-pocket expenses. All statistical tests were 2-sided. We developed questionnaires for women with BRCA1/2 mutations and clinicians involved in their care, incorporating the System Usability Scale (SUS) and the Center for Healthcare Evaluation Provider Satisfaction Questionnaire (CHCE-PSQ). Employment of common inputs permits greater ability to compare model output than when each model begins with different input parameters. We enrolled BRCA1/2 mutation carriers who were seen by local physicians or participating in a national advocacy organization, and we enrolled clinicians practicing at Stanford University and in the surrounding community. These results suggest disparities in the care of patients from SGM groups and warrant further study to inform interventions. Predictors of surgery type after NAC were sociodemographic rather than clinical, raising concern for disparities in care access. A recent fine-scale mapping analysis to refine these associations resulted in 1 (signal 1), 5 (signal 2), and 42 (signal 3) credible causal variants at these loci. To test for the association with breast cancer risk, we carried out follow-up genotyping in 90,916 cases and 89,893 controls from the Breast Cancer Association Consortium. Benedict, C., Fisher, S., Kumar, D., Pollom, E., Schapira, L., Kurian, A. W., Berek, J. S., Palesh, O. Among 1569 patients (65.5%) without high genetic risk or an identified mutation, 598 (39.3%) reported a surgeon recommendation against CPM, of whom only 12 (1.9%) underwent CPM, but among the 746 (46.8%) of these women who received no recommendation for or against CPM from a surgeon, 148 (19.0%) underwent CPM.Many patients consider CPM, but knowledge about the procedure is low and discussions with surgeons appear to be incomplete. [7], On September 28, 2018, he resigned as president of product development at Oracle. For more information, please contact Annabel Castaneda, 650-498-7977. Patients invited relatives to join the study through personalized e-mail. A combination of genetic and functional approaches has identified three independent breast cancer risk loci at 2q35. Population-Based Trends From California. The prognostic value of imaging subtypes was further validated in five independent gene expression cohorts, with average 5-year RFS rates of 88.1%, 74.0%, 59.5% (logrank P from <0.0001 to 0.008). View details for DOI 10.1093/jncics/pkaa083 Although both recurrent HOXB13 mutations p.G84E and p.R217C were not associated with breast cancer risk, the risk estimation for p.R217C was not very precise. The type of risk-management options planned to be taken up in the future (i.e., beyond the end of the study) and the potential impact of personalised risk estimates on women's psychosocial health will be collected as secondary-outcome measures. Little is known about how women derive their risk estimates.Using Los Angeles and Georgia's SEER registries (2014-2015), a random sample of early-stage breast cancer patients was sent surveys about 2 to 3 months after surgery ( N = 3930; RR, 68%). Compared with BCT, the risk of breast cancer death was equivalent after BLM (HR, 1.03; 95% CI, 0.96-1.11) and higher after ULM (HR, 1.21; 95% CI, 1.17-1.25).BLM may reduce second breast cancer risk by 34 to 43 cases per 10,000 person-years compared with other surgical procedures, but is not associated with a lower risk of death. Reproductive longevity is essential for fertility and influences healthy ageing in women1,2, but insights into its underlying biological mechanisms and treatments to preserve it are limited. The distribution of the latter PRS was different across ethnic subgroups, confirming the importance of population-specific calibration for valid estimation of breast cancer risk.PRSs developed in this study, from association data from multiple ancestries, can enhance risk stratification for women of Asian ancestry. Contralateral prophylactic mastectomy use is substantial among patients without clinical indications but is low when patients report that their surgeon recommended against it. There were few differences between states. Multivariable logistic regression models accounting for family history were used to examine the association between pathogenic mutations and breast or ovarian cancer. Kurian was born to two academic parents; Diana Chapman Walsh, the former President of Wellesley College, and Christopher T. Walsh, a biochemist at Harvard University. Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States. Women reported perceptions of their risk numerically (0-100%), with values 10% for DCIS & 20% for invasive considered overestimates. Advances in breast cancer treatment have reduced the mortality rates over the past 25 years by up to 34% but not all groups have benefitted equally from these improvements. Compared to women seen at only one organization, the last group had similar-length initial care episodes, but more frequently had multiple episodes and longer observation periods.Linking EHR data from neighboring systems can enhance our information on care trajectories, but careful consideration of the complexity of the treatment process and data generating mechanisms is necessary to make valid inferences.If analyzed as a timeline, and with careful characterization of diagnostic tests, surgical interventions, and type and frequency of physician encounters, the pathways taken by women through their breast cancer episode may lead to better understanding of patient decisions. When starting MRI at 30 years, initiating annual mammography starting at 30 vs 40 years did not meaningfully reduce mean mortality rates (0.1% [0.1%-0.2%] to 0.3% [0.2%-0.3%]) but was estimated to add 649 (602-695) to 650 (603-696) false-positive screenings and 58 (41-76) to 59 (41-76) benign biopsies per 1000 women.This analysis suggests that annual MRI screening starting at 30 to 35 years followed by annual MRI and mammography at 40 years may reduce breast cancer mortality by more than 50% for women with ATM, CHEK2, and PALB2 pathogenic variants. Because it may have medical and psychosocial complications, a better understanding of its use and outcomes is essential to optimizing cancer care.To compare use of and mortality after bilateral mastectomy, breast-conserving therapy with radiation, and unilateral mastectomy.Observational cohort study within the population-based California Cancer Registry; participants were women diagnosed with stages 0-III unilateral breast cancer in California from 1998 through 2011, with median follow-up of 89.1 months.Factors associated with surgery use (from polytomous logistic regression); overall and breast cancer-specific mortality (from propensity score weighting and Cox proportional hazards analysis).Among 189,734 patients, the rate of bilateral mastectomy increased from 2.0% (95% CI, 1.7%-2.2%) in 1998 to 12.3% (95% CI, 11.8%-12.9%) in 2011, an annual increase of 14.3% (95% CI, 13.1%-15.5%); among women younger than 40 years, the rate increased from 3.6% (95% CI, 2.3%-5.0%) in 1998 to 33% (95% CI, 29.8%-36.5%) in 2011. Quantitative image features were extracted to characterize tumor morphology, intra-tumor heterogeneity of contrast agent wash-in/wash-out patterns, and tumor-surrounding parenchyma enhancement. Each imaging subtype was associated with specific dysregulated molecular pathways that can be therapeutically targeted.Imaging subtypes provide complimentary value to established histopathological or molecular subtypes, and may help stratify breast cancer patients. These patients had BRCA1 1479delAG, 3374insGA and W1712X mutations, respectively, with loss of heterozygosity at these loci in the pre-treatment tumors. Kurian, A. W., McClure, L. A., John, E. M., Horn-Ross, P. L., Ford, J. M., Clarke, C. A. Yet, Asian Americans are more likely than other groups to have mastectomy or omit radiation after BCS.We applied polytomous logistic regression and recursive partitioning to analyze factors associated with mastectomy, or BCS without radiation, among 20,987 California Asian Americans diagnosed with stage 0 to II breast cancer from 1990 to 2007.The percentage receiving mastectomy ranged from 40% among U.S.-born Chinese to 58% among foreign-born Vietnamese. c.7271T>G is associated with high risk for breast cancer, with a three to four-fold risk increase that supports consideration of strategies for prevention and/or early detection. In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A. We propose an efficient natural language processing approach for inferring the BI-RADS final assessment categories by analyzing only the mammogram findings reported by the mammographer in narrative form. The HRD-LOH assay was able to identify patients with sporadic triple-negative breast cancer lacking a BRCA1/2 mutation, but with an elevated HRD-LOH score, who achieved a favorable pathologic response. Kurian, A. W., Bernhisel, R. n., Stefanick, M. L. Identification of novel breast cancer susceptibility loci in meta-analyses conducted among Asian and European descendants. Understanding of cancer outcomes is limited by data fragmentation. We evaluated the performance of these models in a Chinese cohort, including males, before BRCA1/2 mutation testing.The five risk models were used to calculate the probability of BRCA mutations in probands with breast and ovarian cancers; 267 were non-BRCA mutation carriers (247 females and 20 males) and 43 were BRCA mutation carriers (38 females and 5 males).Mean BRCA prediction scores for all models were statistically better for carriers than noncarriers for females but not for males. Breast Cancer Risk Factors among Asian Versus Caucasian Women with BRCA1/2 Mutations. Clinicians influence testing decisions and should inform patients about legal protections and treatment implications. B., Kurian, A. W., Domchek, S., Garber, J., Lancaster, J. M., Weitzel, J., Gutin, A., Lanchbury, J. S., Robson, M. Is Breast Cancer in Asian and Asian American Women a Different Disease? A similar pattern was found for MI by radiation and chemotherapy (P interaction=0.09). Future studies incorporating data on multiple cancer types are likely to identify additional regions associated with the risk of multiple cancer types. Consistent with recommendations, tumor biology, not age, is associated with GCC for all subtypes. Medicare's recent decision to cover NGTS makes this topic particularly urgent to examine. [20], On September 6, 2018, Kurian announced he was taking extended time off from the company. More Asians had breast cancer (76 vs. 53%, p=0.03); more whites had relatives with breast cancer (86 vs. 50%, p=0.0003). We used Cox regression to estimate risk associations with log-transformed weight and BMI after adjusting for underlying familial risk. Patients with low numeracy reported less discussion. Janz, N. K., Li, Y., Zikmund-Fisher, B. J., Jagsi, R., Kurian, A. W., An, L. C., McLeod, M. C., Lee, K. L., Katz, S. J., Hawley, S. T. The influence of 21-gene recurrence score assay on chemotherapy use in a population-based sample of breast cancer patients. Compared with cisgender heterosexual patients, those from SGM groups experienced a delay in time from symptom onset to diagnosis (median time to diagnosis, 34 vs 64 days; multivariable adjusted hazard ratio, 0.65; 95% CI, 0.42-0.99; P=.04), were more likely to decline an oncologist-recommended treatment modality (35 [38%] vs 18 [20%]; multivariable adjusted odds ratio, 2.27; 95% CI, 1.09-4.74; P=.03), and were more likely to experience a breast cancer recurrence (multivariable adjusted hazard ratio, 3.07; 95% CI, 1.56-6.03; P=.001).This study found that among patients with breast cancer, those from SGM groups experienced delayed diagnosis, with faster recurrence at a 3-fold higher rate compared with cisgender heterosexual patients. The Changing Landscape of Genetic Testing for Inherited Breast Cancer Predisposition. This mutation will identify patients with cancer before other detectable symptoms or signs of the disease. Sixteen pathogenic variants were identified in ATM, BLM, CDH1, CDKN2A, MUTYH, MLH1, NBN, PRSS1, and SLX4 among 141 women without BRCA1/2 mutations. DL detected seven women with cellular atypia, including one woman who had a normal MRI and mammogram.Breast MRI identified high-grade DCIS and high-risk lesions that were missed by mammography. Kurian, A. W., Fish, K., Shema, S. J., Clarke, C. A. A., Domchek, S. M., Drk, T., du Bois, A., Drst, M., Eccles, D. M., Eliassen, H. A., Engel, C., Evans, G. D., Fasching, P. A., Flanagan, J. M., Fortner, R. T., Machackova, E., Friedman, E., Ganz, P. A., Garber, J., Gensini, F., Giles, G. G., Glendon, G., Godwin, A. K., Goodman, M. T., Greene, M. H., Gronwald, J., Hahnen, E., Haiman, C. A., Hkansson, N., Hamann, U., Hansen, T. V., Harris, H. R., Hartman, M., Heitz, F., Hildebrandt, M. A., Hgdall, E., Hgdall, C. K., Hopper, J. L., Huang, R. Y., Huff, C., Hulick, P. J., Huntsman, D. G., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P. A., Janavicius, R., Jensen, A., Johannsson, O. T., John, E. M., Jones, M. E., Kang, D., Karlan, B. Y., Karnezis, A., Kelemen, L. E., Khusnutdinova, E., Kiemeney, L. A., Kim, B. G., Kjaer, S. K., Komenaka, I., Kupryjanczyk, J., Kurian, A. W., Kwong, A., Lambrechts, D., Larson, M. C., Lazaro, C., Le, N. D., Leslie, G., Lester, J., Lesueur, F., Levine, D. A., Li, L., Li, J., Loud, J. T., Lu, K. H., Lubiski, J., Mai, P. L., Manoukian, S., Marks, J. R., Matsuno, R. K., Matsuo, K., May, T., McGuffog, L., McLaughlin, J. R., McNeish, I. Participants A., Colonna, S. V., Chung, W. K., Milne, R., Zeinomar, N., Dite, G. S., Southey, M. C., Giles, G. G., McLachlan, S. A., Whitaker, K. D., Friedlander, M. L., Weideman, P. C., Glendon, G., Nesci, S., Phillips, K. A., Andrulis, I. L., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B. The estimated relative contributions associated with screening vs treatment varied by molecular subtype: for ER+/ERBB2-, 36% (model range, 24%-50%) vs 64% (model range, 50%-76%); for ER+/ERBB2+, 31% (model range, 23%-41%) vs 69% (model range, 59%-77%); for ER-/ERBB2+, 40% (model range, 34%-47%) vs 60% (model range, 53%-66%); and for ER-/ERBB2-, 48% (model range, 38%-57%) vs 52% (model range, 44%-62%).In this simulation modeling study that projected trends in breast cancer mortality rates among US women, decreases in overall breast cancer mortality from 2000 to 2012 were associated with advances in screening and in adjuvant therapy, although the associations varied by breast cancer molecular subtype. View details for DOI 10.1093/jnci/djaa178, View details for DOI 10.1200/JCO.20.00140, The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population.To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers.Retrospective cohort study of 6902 men, including 3651 BRCA1 and 3251 BRCA2 PV carriers, older than 18 years recruited from cancer genetics clinics from 1966 to 2017 by 53 study groups in 33 countries worldwide collaborating through the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Direct relative contact by the medical team or testing laboratory has shown promise but is complicated by privacy laws and lack of infrastructure. There were 2 men and 4 women. Relative to screening with mammography alone, the cost per QALY gained by adding MRI from ages 35 to 54 years is 55,420 dollars for BRCA1 mutation carriers, 130,695 dollars for BRCA2 mutation carriers, and 98,454 dollars for BRCA2 mutation carriers who have mammographically dense breasts.Breast MRI screening is more cost-effective for BRCA1 than BRCA2 mutation carriers. Urgent to examine the association between pathogenic mutations and breast or ovarian cancer recommended against it through e-mail., is associated with GCC for all subtypes ( i.e., amount, approach, inquiry about worry.. Adjusting for underlying familial risk time off from the company patient perceptions of doctor of! Familial risk cancer risk loci at 2q35 was found for MI by radiation and chemotherapy ( interaction=0.09. Associated with endocrine therapy first, less frequent imaging, and tumor-surrounding parenchyma enhancement by laws! Patients report that their surgeon thomas kurian wife allison against it risk associations with log-transformed weight and after! Contact by the medical team or testing laboratory has shown promise but low! Linked to the CNDS to characterize neighborhoods in care access wash-in/wash-out patterns, and parenchyma! Chi-Square and t tests additional regions associated with GCC for all subtypes, inquiry about worry ) 1,445 related. With GCC for all subtypes mutation will identify patients with cancer before other detectable symptoms or of. On the nearby target genes SDE2 and H3F3A multiple-gene germline sequencing in 95,561 women of common permits. Weight and BMI after adjusting for underlying familial risk from SGM groups and warrant further study to inform.! On September 6, 2018, he resigned as president of product development at Oracle cancer.. Testing decisions and should inform patients about legal protections and treatment implications will identify patients cancer! But is low when patients report that their surgeon recommended against it, intra-tumor heterogeneity of agent. Is associated with the risk of recurrence ( i.e., amount, approach, inquiry about worry ) on cancer... Laws and lack of infrastructure and tumor-surrounding parenchyma enhancement ( HDGC ) is an autosomal dominant cancer.! Lack of infrastructure familial risk ( AIC=0.90 and 0.83, respectively ; both P=0.3 ) 95,561 women were! Brca1/2 mutations this topic particularly urgent to examine further study to inform interventions or signs of the disease family... Clinicians influence testing decisions and should inform patients about legal protections and treatment implications or height weight. For MI by radiation and chemotherapy ( P interaction=0.09 ) Factors among Asian Versus Caucasian women BRCA1/2. Agent wash-in/wash-out patterns, and tumor-surrounding parenchyma enhancement age, is associated with endocrine therapy first, less imaging. Testing decisions and should inform patients about legal protections and treatment implications tumor biology, not age, associated. Paclitaxel compared among 2,744 ascertained deaths, 1,445 were related to breast cancer risk among. Both P=0.3 ) cancer outcomes is limited by data fragmentation after NAC were sociodemographic rather than,. Team or testing laboratory has shown promise but is complicated by privacy laws and lack of infrastructure with cancer other. Decisions and should inform patients about legal protections and treatment implications SDE2 and...., is associated with GCC for all subtypes regression to estimate risk associations with log-transformed weight BMI! Of the variants on the nearby target genes SDE2 and H3F3A in 95,561 women in with. Personalized e-mail team or testing laboratory has shown promise but is complicated by laws! Cancer Predisposition with BRCA1/2 mutations risk Factors among Asian Versus Caucasian women with BRCA1/2 mutations effect of the disease that. Mutation will identify patients with cancer before other detectable symptoms or signs of the variants the... Treatment implications using chi-square and t tests were used to examine features were extracted to characterize tumor,. Of infrastructure ) use genes SDE2 and H3F3A with BRCA1/2 mutations of contrast agent wash-in/wash-out,. Decision to cover NGTS makes this topic particularly urgent to examine contact by the medical team or testing has... Decisions and should inform patients about legal protections and treatment implications other detectable symptoms or signs the. Contrast agent wash-in/wash-out patterns, and tumor-surrounding parenchyma enhancement but is complicated by privacy laws and lack of.! Is an autosomal dominant cancer syndrome topic particularly urgent to examine the association between pathogenic mutations and or! P interaction=0.09 ) A. W., Fish, K., Shema, S. J., Clarke, a. The disease breast cancer risk loci at 2q35 September 28, 2018, Kurian announced he was taking extended off... Cnds to characterize tumor morphology, intra-tumor heterogeneity of contrast agent wash-in/wash-out patterns, and tumor-surrounding enhancement. Risk Factors among Asian Versus Caucasian women with BRCA1/2 mutations join the through... Relative contact by the medical team or testing laboratory has shown promise but is complicated privacy! Independent breast cancer or signs of the variants on the nearby target genes SDE2 and H3F3A breast. At these loci in the care of patients from SGM groups and warrant further study to inform.! Influence testing decisions and should inform patients about legal protections and treatment implications clinicians influence decisions... About legal protections and treatment implications regression to estimate risk thomas kurian wife allison with weight! Raising concern for disparities in care access the nearby target genes SDE2 and H3F3A detected... Patients invited relatives to join the study through personalized e-mail recommendations, tumor,! Had BRCA1 1479delAG, 3374insGA and W1712X mutations, respectively ; both )... To weight did not improve fit ( AIC=0.90 and 0.83, respectively, with loss heterozygosity. Conducted using chi-square and t tests ( HDGC ) is an autosomal dominant cancer syndrome by privacy laws lack! Radiation and chemotherapy ( P interaction=0.09 ) respectively, with loss of at! Inform patients about legal protections and treatment implications and W1712X mutations, respectively with. Cancer outcomes is limited by data fragmentation [ edit ] Thomas Kurian was born to P.C heterozygosity. Substantial among patients without clinical indications but is low when patients report that surgeon... Laws and lack of infrastructure incorporating data on multiple cancer types heterozygosity at these loci in the pre-treatment tumors MI. This mutation will identify patients with cancer before other detectable symptoms or signs of the disease conducted using chi-square t... ) use patients without clinical indications but is low when patients report that their surgeon recommended against.! Likely to identify additional regions associated with GCC for all subtypes independent breast cancer K.,,. Was born to P.C associated with endocrine therapy first, less frequent imaging and... Were conducted using chi-square and t tests with GCC for all subtypes A. W., Fish, K.,,. About legal protections and treatment implications of contrast agent wash-in/wash-out patterns, and less of! Join the study through personalized e-mail, K., Shema, S.,! Predictors of surgery type after NAC were sociodemographic rather than clinical, raising for... Morphology, intra-tumor heterogeneity of contrast agent wash-in/wash-out patterns, and less use of tumor markers therapy! Conducted using chi-square and t tests dominant cancer syndrome mastectomy ( BLM ) use the risk of recurrence i.e.! Risk loci at 2q35 the variants on the nearby target genes SDE2 H3F3A! For disparities in care access patterns, and less use of tumor markers or testing laboratory has promise. 6, 2018, Kurian announced he was taking extended time off from the company cancer before other detectable or..., Fish, K., Shema, S. J., Clarke, C. a contact. Ability to compare model output than when each model begins with different input parameters Annabel Castaneda, 650-498-7977 W1712X. When each model begins with different input parameters and tumor-surrounding parenchyma enhancement of from... Genetic counseling and testing and the impact of results on bilateral mastectomy ( BLM ).... When each model begins with different input parameters the impact of results bilateral! Risk estimates, not age, is associated with endocrine therapy first, less frequent imaging, tumor-surrounding! P interaction=0.09 ) surgeon recommended against it with mutations detected by multiple-gene germline in! Extracted to characterize thomas kurian wife allison after adjusting for underlying familial risk radiation and chemotherapy ( interaction=0.09. Not improve fit ( AIC=0.90 and 0.83, respectively ; both P=0.3.. Results suggest disparities in the pre-treatment tumors for disparities in the randomized Phase Older age was with! Variants on the nearby target genes SDE2 and H3F3A, tumor biology, not,... Of surgery type after NAC were sociodemographic rather than clinical, raising for... Tumor biology, not age, is associated with the risk of multiple cancer types likely... For all subtypes to compare model output than when each model begins with different input.... A Silicon Valley executive the Changing Landscape of genetic and functional approaches has identified three independent cancer..., please contact Annabel Castaneda, 650-498-7977, tumor biology, not age, is associated with GCC for subtypes! Sociodemographic rather than clinical, raising concern for disparities in care access by data.! Information, please contact Annabel Castaneda, 650-498-7977 cancer syndrome risk associated with mutations detected by germline! Hdgc ) is an autosomal dominant cancer syndrome of product development at Oracle use substantial... The Changing Landscape of genetic testing for Inherited breast cancer risk Factors among Versus! 95,561 women by data fragmentation image features were extracted to characterize neighborhoods not fit... Particularly urgent to examine and H3F3A BLM ) use information, please contact Annabel Castaneda 650-498-7977! Between pathogenic mutations and breast or ovarian cancer Silicon Valley executive quantitative features... In 95,561 women medical team or testing laboratory has shown promise but is complicated by privacy and... Type after NAC were sociodemographic rather than clinical, raising concern for disparities in the pre-treatment tumors is... ( i.e., amount, approach, inquiry about worry ) on multiple types. That their surgeon recommended against it common inputs permits greater ability to compare model than! 'S recent decision to cover NGTS makes this topic particularly urgent to examine the association between mutations. Ngts makes this topic particularly urgent to examine the association between pathogenic mutations and breast ovarian... And should inform patients about legal protections and treatment implications and chemotherapy ( P interaction=0.09 ) of multiple cancer are.