Upfront Multigene Panel Testing for Cancer Susceptibility in Newly Diagnosed Endometrial Cancer Patients: A Prospective Cohort Study

2021 ◽  
Author(s):  
Monica Levine ◽  
Rachel Pearlman ◽  
Heather Hampel ◽  
Casey Cosgrove ◽  
David Cohn ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Cohort Study ◽  
Cancer Patients ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Cancer Susceptibility ◽  
Newly Diagnosed ◽  
Panel Testing ◽  
Multigene Panel Testing ◽  
Multigene Panel

scholarly journals Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study

2021 ◽  
pp. 1588-1602
Author(s):  
Monica D. Levine ◽  
Rachel Pearlman ◽  
Heather Hampel ◽  
Casey Cosgrove ◽  
David Cohn ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Genes ◽  
Type Ii ◽  
Newly Diagnosed ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes ◽  
Multigene Panel Testing ◽  
Multigene Panel

PURPOSE Clinical utility of up-front multigene panel testing (MGPT) is directly related to the frequency of pathogenic variants (PVs) in the population screened and how genetic findings can be used to guide treatment decision making and cancer prevention efforts. The benefit of MGPT for many common malignancies remains to be determined. In this study, we evaluated up-front MGPT in unselected patients with endometrial cancer (EC) to determine the frequency of PVs in cancer susceptibility genes. METHODS Patients with EC were prospectively enrolled at nine Ohio institutions from October 1, 2017, to December 31, 2020. Nine hundred and sixty-one patients with newly diagnosed EC underwent clinical germline MGPT for 47 cancer susceptibility genes. In addition to estimating the prevalence of germline PVs, the number of individuals identified with Lynch syndrome (LS) was compared between MGPT and tumor-based screening. RESULTS Likely pathogenic variants or PVs were identified in 97 of 961 women (10.1%). LS was diagnosed in 29 of 961 patients (3%; 95% CI, 2.1 to 4.3), with PVs in PMS2 most frequent. MGPT revealed nine patients with LS in addition to the 20 identified through routine tumor-based screening. BRCA1 and BRCA2 PVs were found in 1% (10 of 961; 95% CI, 0.6 to 1.9) of patients and that group was significantly enriched for type II ECs. CONCLUSION This prospective, multicenter study revealed potentially actionable germline variants in 10% of unselected women with newly diagnosed EC, supporting the use of up-front MGPT for all EC patients. The discovery that BRCA1 or BRCA2 heterozygotes frequently had type II cancers points to therapeutic opportunities for women with aggressive histologic EC subtypes.

scholarly journals 5-Hydroxyvitamin D concentration in paediatric cancer patients from Scotland: a prospective cohort study

2016 ◽  
Vol 116 (11) ◽  
pp. 1926-1934 ◽  
Author(s):  
Raquel Revuelta Iniesta ◽  
Ilenia Paciarotti ◽  
Isobel Davidson ◽  
Jane M. McKenzie ◽  
Celia Brand ◽  
...  
Keyword(s):  
Cohort Study ◽  
Relative Risk ◽  
Cancer Patients ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Vitamin D Supplementation ◽  
Healthy Children ◽  
Paediatric Cancer ◽  
Hydroxyvitamin D ◽  
Nutritional Data

AbstractChildren with cancer are potentially at a high risk of plasma 25-hydroxyvitamin D (25(OH)D) inadequacy, and despite UK vitamin D supplementation guidelines their implementation remains inconsistent. Thus, we aimed to investigate 25(OH)D concentration and factors contributing to 25(OH)D inadequacy in paediatric cancer patients. A prospective cohort study of Scottish children aged <18 years diagnosed with, and treated for, cancer (patients) between August 2010 and January 2014 was performed, with control data from Scottish healthy children (controls). Clinical and nutritional data were collected at defined periods up to 24 months. 25(OH)D status was defined by the Royal College of Paediatrics and Child Health as inadequacy (<50 nmol/l: deficiency (<25 nmol/l), insufficiency (25–50 nmol/l)), sufficiency (51–75 nmol/l) and optimal (>75 nmol/l). In all, eighty-two patients (median age 3·9, interquartile ranges (IQR) 1·9–8·8; 56 % males) and thirty-five controls (median age 6·2, IQR 4·8–9·1; 49 % males) were recruited. 25(OH)D inadequacy was highly prevalent in the controls (63 %; 22/35) and in the patients (64 %; 42/65) at both baseline and during treatment (33–50 %). Non-supplemented children had the highest prevalence of 25(OH)D inadequacy at every stage with 25(OH)D median ranging from 32·0 (IQR 21·0–46·5) to 45·0 (28·0–64·5) nmol/l. Older age at baseline (R −0·46; P<0·001), overnutrition (BMI≥85th centile) at 3 months (P=0·005; relative risk=3·1) and not being supplemented at 6 months (P=0·04; relative risk=4·3) may have contributed to lower plasma 25(OH)D. Paediatric cancer patients are not at a higher risk of 25(OH)D inadequacy than healthy children at diagnosis; however, prevalence of 25(OH)D inadequacy is still high and non-supplemented children have a higher risk. Appropriate monitoring and therapeutic supplementation should be implemented.

scholarly journals Analysis of Undesirable Sequelae of Sentinel Node Surgery in Breast Cancer Patients – a Prospective Cohort Study

2017 ◽  
Vol 24 (4) ◽  
pp. 891-897
Author(s):  
Dominika Kozak ◽  
Iwona Głowacka-Mrotek ◽  
Tomasz Nowikiewicz ◽  
Zygmunt Siedlecki ◽  
Wojciech Hagner ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cohort Study ◽  
Sentinel Node ◽  
Cancer Patients ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Breast Cancer Patients
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