The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling

1989 ◽  
Vol 146 (8) ◽  
pp. 1032-1036 ◽  
Keyword(s):  
Genetic Counseling ◽  
Recurrence Risk ◽  
University Of Utah ◽  
Epidemiologic Survey ◽  
Risk Estimates

scholarly journals Empiric Recurrence Risk Estimates for Chronic Tic Disorders: Implications for Genetic Counseling

2020 ◽  
Vol 11 ◽  
Author(s):  
Gary A. Heiman ◽  
Jessica Rispoli ◽  
Christine Seymour ◽  
James F. Leckman ◽  
Robert A. King ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Recurrence Risk ◽  
Tic Disorders ◽  
Risk Estimates ◽  
Chronic Tic Disorders

Developmental Dyslexia – Recurrence Risk Estimates from a German Bi-Center Study Using the Single Proband Sib Pair Design

2005 ◽  
Vol 59 (3) ◽  
pp. 136-143 ◽  
Author(s):  
Andreas Ziegler ◽  
Inke R. König ◽  
Wolfgang Deimel ◽  
Ellen Plume ◽  
Markus M. Nöthen ◽  
...  
Keyword(s):  
Developmental Dyslexia ◽  
Recurrence Risk ◽  
Risk Estimates ◽  
Center Study

Quantitating familial cancer risk: a resource for clinical oncologists.

1994 ◽  
Vol 12 (8) ◽  
pp. 1724-1736 ◽  
Author(s):  
K Offit ◽  
K Brown
Keyword(s):  
Genetic Counseling ◽  
Cancer Risk ◽  
Familial Cancer ◽  
Cancer Genetic Counseling ◽  
Cancer Genetic ◽  
Ethical Considerations ◽  
Risk Estimates ◽  
Clinical Counseling ◽  
History Of

PURPOSE Because a family history of cancer constitutes an important risk factor, estimation and communication of cancer risk can facilitate efforts toward early detection and prevention. This review provides a resource for health professionals called to draw upon a multidisciplinary literature to provide quantitative risk estimates to families with cancer. DESIGN Descriptive population-derived, epidemiologic, genetic, genetic epidemiologic, and molecular studies are critically reviewed in the context of cancer genetic counseling. RESULTS Data are presented that document the increased lifetime relative risk to relatives of individuals with cancers of the breast, ovary, colon, prostate, or other sites. In general, risk ratios are poorly suited for clinical counseling. Age-specific absolute risks are presented for first-degree relatives of individuals affected by cancers of the breast, ovary, and colon. The derivation of Mendelian and Bayesian risk estimates in the setting of well-defined cancer family syndromes, and the growing role of DNA testing in more accurately assessing these risks, are discussed. Such carrier testing requires careful psychologic and ethical considerations. CONCLUSION Multidisciplinary cancer genetic counseling is an emerging resource available to physicians who care for families with common adult malignancies.

scholarly journals Genetic Counseling and NGS Screening for Recessive LGMD2A Families

2020 ◽  
Vol 9 (2) ◽  
pp. 13
Author(s):  
Claudia Strafella ◽  
Valerio Caputo ◽  
Giulia Campoli ◽  
Rosaria Maria Galota ◽  
Julia Mela ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Background ◽  
Risk Estimation ◽  
Prenatal Testing ◽  
Recurrence Risk ◽  
Accurate Estimation ◽  
Medical Surveillance ◽  
Positive History ◽  
The Family ◽  
Next Generation Sequencing Ngs

Genetic counseling applied to limb–girdle muscular dystrophies (LGMDs) can be very challenging due to their clinical and genetic heterogeneity and the availability of different molecular assays. Genetic counseling should therefore be addressed to select the most suitable approach to increase the diagnostic rate and provide an accurate estimation of recurrence risk. This is particularly true for families with a positive history for recessive LGMD, in which the presence of a known pathogenetic mutation segregating within the family may not be enough to exclude the risk of having affected children without exploring the genetic background of phenotypically unaffected partners. In this work, we presented a family with a positive history for LGMD2A (OMIM #253600, also known as calpainopathy) characterized by compound heterozygosity for two CAPN3 mutations. The genetic specialist suggested the segregation analysis of both mutations within the family as a first-level analysis. Sequentially, next-generation sequencing (NGS) analysis was performed in the partners of healthy carriers to provide an accurate recurrence/reproductive risk estimation considering the genetic background of the couple. Finally, this work highlighted the importance of providing a genetic counseling/testing service even in unaffected individuals with a carrier partner. This approach can support genetic counselors in estimating the reproductive/recurrence risk and eventually, suggesting prenatal testing, early diagnosis or other medical surveillance strategies.

Patient-specific meta-analysis of 3 validation studies of the 12-gene colon cancer recurrence score assay for recurrence risk assessment after surgery with or without 5FU and oxaliplatin.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 3599-3599
Author(s):  
Greg Yothers ◽  
Alan P. Venook ◽  
Takeharu Yamanaka ◽  
Yan Lin ◽  
Michael Crager ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Meta Analysis ◽  
Recurrence Score ◽  
Recurrence Risk ◽  
Current Medical ◽  
Stage Ii ◽  
Patient Specific ◽  
Risk Estimates ◽  
Oxaliplatin Treatment ◽  
Current Medical Practice

3599 Background: The 12-gene Oncotype DX Colon Recurrence Score assay is a clinically validated genomic assay that evaluates recurrence risks in stage II and stage III colon cancer patients independent of clinical-pathologic features. Improved colon cancer care has reduced recurrence rates since the late 1990’s. Methods: Pre-specified patient-specific meta-analysis methods were used to estimate 1-, 3- and 5-year recurrence risk combining the 12-gene colon recurrence score (RS) validation studies CALGB 9581, NSABP C-07 and SUNRISE. Cox models had effects for RS result, number of nodes examined (<12 or ≥ 12), T-stage, MMR status, and stage (II, IIIAB or IIIC). Baseline cumulative hazard estimates used the latest two studies to reflect current medical practice. Estimates for surgery, surgery+5FU and surgery+5FU+oxaliplatin treatment were provided by integrating stage-specific 5FU hazard ratios from a meta-analysis of the QUASAR study (2007) and a pooled analysis of NSABP studies (Wilkinson 2010), and oxaliplatin treatment effect estimates from NSABP C-07. Recurrence risk with 5FU alone was not estimated for MMR-deficient patients due to expected lack of 5FU efficacy in these patients (Sargent 2010). Results: In the overall population of 2,179 patients, 55%, 32% and 13% were Stage II, IIIA/B and IIIC, 63% had ≥12 nodes examined, 90% were T3, and 88% were MMR proficient. Median RS result was 31 (IQR 23–39). RS result and each clinical-pathologic factor contributed independent prognostic information (meta-analysis Wald tests, all p<.001). Risk estimates are generally lower than previous RS report risk estimates. For patients with pathological stage II, T3, MMR-proficient tumors with ≥12 nodes examined, approximately 40% are expected to have 5-year recurrence risk ≤10% with surgery alone based on the distribution of RS results. The table shows example 5-year recurrence risk estimates for specific RS results and clinical-pathologic characteristics. Conclusions: The new recurrence risk estimates provide more patient-specific information reflecting more current medical practice than previous reports using RS result, allowing better, more individualized treatment decisions.[Table: see text]

scholarly journals Communication of Recurrence Risk Estimates to Patients Diagnosed With Breast Cancer

JAMA Oncology ◽  
2016 ◽  
Vol 2 (5) ◽  
pp. 684 ◽  
Author(s):  
Brian J. Zikmund-Fisher ◽  
Nancy K. Janz ◽  
Sarah T. Hawley ◽  
Kent A. Griffith ◽  
Aaron Sabolch ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Recurrence Risk ◽  
Risk Estimates

scholarly journals Comparison of Local Recurrence Risk Estimates After Breast-Conserving Surgery for DCIS: DCIS Nomogram Versus Refined Oncotype DX Breast DCIS Score

2019 ◽  
Vol 26 (10) ◽  
pp. 3282-3288 ◽  
Author(s):  
Kimberly J. Van Zee ◽  
Emily C. Zabor ◽  
Rosemarie Di Donato ◽  
Bryan Harmon ◽  
Jana Fox ◽  
...  
Keyword(s):  
Local Recurrence ◽  
Recurrence Risk ◽  
Breast Conserving Surgery ◽  
Oncotype Dx ◽  
Risk Estimates

scholarly journals Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Natasha Marrus ◽  
Tychele N. Turner ◽  
Elizabeth Forsen ◽  
Drew Bolster ◽  
Alison Marvin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Preventive Intervention ◽  
Molecular Genetic ◽  
Recurrence Risk ◽  
Autism Spectrum ◽  
Transmission Risk ◽  
Risk Scores ◽  
Parental History ◽  
Pathogenic Variants ◽  
Prospective Parents

Abstract Background Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents. Recently, we reported an average increase of 3–5% over general population risk of ASD among offspring of adults who have first-degree relatives with ASD in a large epidemiologic family sample. A next essential step is to investigate whether there are measurable characteristics of individual parents placing them at higher or lower recurrence risk, as this information could allow more personalized genetic counseling. Methods We assembled what is to our knowledge the largest collection of data on the ability of four measurable characteristics of unaffected prospective parents to specify risk for autism among their offspring: (1) sub clinical autistic trait burden, (2) parental history of a sibling with ASD, (3) transmitted autosomal molecular genetic abnormalities, and (4) parental age. Leveraging phenotypic and genetic data in curated family cohorts, we evaluate the respective associations between these factors and child outcome when autism is present in the family in the parental generation. Results All four characteristics were associated with elevation in offspring risk; however, the magnitude of their predictive power—with the exception of isolated rare inherited pathogenic variants —does not yet reach a threshold that would typically be considered actionable for reproductive decision-making. Conclusions Individual specification of risk to offspring of adults in ASD-affected families is not straightforwardly improved by ascertainment of parental phenotype, and it is not yet clear whether genomic screening of prospective parents in families affected by idiopathic ASD is warranted as a clinical standard. Systematic screening of affected family members for heritable pathogenic variants, including rare sex-linked mutations, will identify a subset of families with substantially elevated transmission risk. Polygenic risk scores are only weakly predictive at this time but steadily improving and ultimately may enable more robust prediction either singly or when combined with the risk variables examined in this study.

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