scholarly journals Towards gene- and gender-based risk estimates in Lynch syndrome; age-specific incidences for 13 extra-colorectal cancer types

2017 ◽  
Vol 117 (11) ◽  
pp. 1702-1710 ◽  
Author(s):  
Christina Therkildsen ◽  
Steen Ladelund ◽  
Lars Smith-Hansen ◽  
Lars Joachim Lindberg ◽  
Mef Nilbert
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Risk Estimates ◽  
Cancer Types ◽  
Gender Based ◽  
And Gender

scholarly journals Penetrance of Colorectal Cancer Among Mismatch Repair Gene Mutation Carriers: A Meta-Analysis

2020 ◽  
Vol 4 (5) ◽  
Author(s):  
Cathy Wang ◽  
Yan Wang ◽  
Kevin S Hughes ◽  
Giovanni Parmigiani ◽  
Danielle Braun
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Meta Analysis ◽  
Heterozygous Mutation ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Risk Estimates ◽  
Specific Risk ◽  
Mutation Carriers

Abstract Background Lynch syndrome, the most common colorectal cancer (CRC) syndrome, is caused by germline mismatch repair (MMR) genes. Precise estimates of age-specific risks are crucial for sound counseling of individuals managing a genetic predisposition to cancer, but published risk estimates vary. The objective of this work is to provide gene-, sex-, and age-specific risk estimates of CRC for MMR mutation carriers that comprehensively reflect the best available data. Methods We conducted a meta-analysis to combine risk information from multiple studies on Lynch syndrome–associated CRC. We used a likelihood-based approach to integrate reported measures of CRC risk and deconvolved aggregated information to estimate gene- and sex-specific risk. Results Our comprehensive search identified 10 studies (8 on MLH1, 9 on MSH2, and 3 on MSH6). We estimated the cumulative risk of CRC by age and sex in heterozygous mutation carriers. At age 70 years, for male and female carriers, respectively, risks for MLH1 were 43.9% (95% confidence interval [CI] = 39.6% to 46.6%) and 37.3% (95% CI = 32.2% to 40.2%), for MSH2 were 53.9% (95% CI = 49.0% to 56.3%) and 38.6% (95% CI = 34.1% to 42.0%), and for MSH6 were 12.0% (95% CI = 2.4% to 24.6%) and 12.3% (95% CI = 3.5% to 23.2%). Conclusions Our results provide up-to-date and comprehensive age-specific CRC risk estimates for counseling and risk prediction tools. These will have a direct clinical impact by improving prevention and management strategies for both individuals who are MMR mutation carriers and those considering testing.

Photos from the Quarter

2020 ◽  
Vol 49 (2) ◽  
pp. 105-112
Keyword(s):  
Gender Based Violence ◽  
Gender Based ◽  
And Gender ◽  
Israeli Occupation

This sample of photos from 16 August–15 November 2019 aims to convey a sense of Palestinian life during this quarter. The images capture Palestinians across the diaspora as they fight to exercise their rights: to run for office, to vote, and to protest both Israeli occupation and gender-based violence.

TUMOUR PATHOLOGY PREDICTS MICROSATELLITE INSTABILITY IN A POPULATION-BASED SERIES OF COLORECTAL CANCER CASES

2008 ◽  
Vol 31 (4) ◽  
pp. 12
Author(s):  
A J Hyde ◽  
D Fontaine ◽  
R C Green ◽  
M Simms ◽  
P S Parfrey ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Microsatellite Instability ◽  
Population Based ◽  
Pathological Features ◽  
Predictive Tool ◽  
Entire Cohort ◽  
Dna Mismatch ◽  
Bethesda Guidelines ◽  
Revised Bethesda Guidelines

Background: Lynch Syndrome is an autosomal dominant trait that accounts forapproximately 3% of all cases of colorectal cancer (CRC). It is caused by mutations in DNA mismatch repair (MMR) genes, most commonly MLH1 or MSH2. These MMR defects cause high levels of microsatellite instability (MSI-H) in the tumours. MSI testing of all CRCs to identify potential Lynch Syndrome cases is not practical, so the Bethesda Guidelines, which use clinical and pathological features, were created to identify those tumours most likely to be MSI-H^1. In 2007 Jenkins et. al. created MsPath, a tool based on the pathological features described in the rarely used 3^rd Bethesda criterion, to improve prediction of MSI-H tumours among CRC cases diagnosed before age 60 years^2. Methods: We collected a population-based cohort of 716 CRC cases diagnosed before age 75 years in Newfoundland. For each of these cases we collected family history, performed MSI analysis, and scored a number of pathological features for the purpose of evaluating the accuracy of the Bethesda Criteria and MsPath at predicting MSI-H tumours. Results: Our work validates the MsPath tool in the Newfoundland population for the same age group used to create the tool. We found it identified MSI-H cases with a sensitivity of 95% and specificity of 35% in our population of CRCcases diagnosed before age 60 years (n=290). We also tested this tool on our older population of CRCcases, diagnosed at ages 60 to 74 years (n=426). We found it to be at least as predictive in this population,with a sensitivity of 95% and a specificity of 42%. We then used our entire cohort (N=716) to compare MsPath with the other Bethesda criteria.Bethesda criteria 1, 2, 4 and 5 together predicted MSI-H cases with a sensitivity of 67% and a specificity of 51%. MsPath was better at identifying these cases, with a sensitivity of 95% and a specificity of 39%. Conclusions: We conclude that MsPath can be extended to include patients diagnosed with CRC before age 75 years. As well, we have found that MsPath is a better predictive tool than the Revised Bethesda Guidelines for identifying MSI-H cases within a population-based setting of colorectal cancer. References: 1. Umar, A. et. al. J Natl Cancer Inst 2004;96:261-8 2.Jenkins, M.A. et. al. Gastroenterology 2007;133:48-56

THE SINS OF THE FATHER: GENDER- BASED VIOLENCE IN POST-APARTHEID SOUTH AFRICA

2017 ◽  
Vol 14 (2) ◽  
pp. 57-70 ◽  
Author(s):  
Lyn Snodgrass
Keyword(s):  
South Africa ◽  
Black Women ◽  
South African ◽  
African Women ◽  
Gender Based Violence ◽  
Political Issues ◽  
Race And Gender ◽  
Gender Based ◽  
And Gender ◽  
South African Women

This article explores the complexities of gender-based violence in post-apartheid South Africa and interrogates the socio-political issues at the intersection of class, ‘race’ and gender, which impact South African women. Gender equality is up against a powerful enemy in societies with strong patriarchal traditions such as South Africa, where women of all ‘races’ and cultures have been oppressed, exploited and kept in positions of subservience for generations. In South Africa, where sexism and racism intersect, black women as a group have suffered the major brunt of this discrimination and are at the receiving end of extreme violence. South Africa’s gender-based violence is fuelled historically by the ideologies of apartheid (racism) and patriarchy (sexism), which are symbiotically premised on systemic humiliation that devalues and debases whole groups of people and renders them inferior. It is further argued that the current neo-patriarchal backlash in South Africa foments and sustains the subjugation of women and casts them as both victims and perpetuators of pervasive patriarchal values.

scholarly journals Sexual health (excluding reproductive health, intimate partner violence and gender-based violence) and COVID-19: a scoping review

2021 ◽  
pp. sextrans-2020-054896
Author(s):  
Navin Kumar ◽  
Kamila Janmohamed ◽  
Kate Nyhan ◽  
Laura Forastiere ◽  
Wei-Hong Zhang ◽  
...  
Keyword(s):  
Intimate Partner Violence ◽  
Health Disparities ◽  
Reproductive Health ◽  
Sexual Health ◽  
Scoping Review ◽  
Partner Violence ◽  
Intimate Partner ◽  
Gender Based Violence ◽  
Gender Based ◽  
And Gender

ObjectivesThe COVID-19 pandemic has exposed and exacerbated existing socioeconomic and health disparities, including disparities in sexual health and well-being. While there have been several reviews published on COVID-19 and population health disparities generally—including some with attention to HIV—none has focused on sexual health (ie, STI care, female sexual health, sexual behaviour). We have conducted a scoping review focused on sexual health (excluding reproductive health (RH), intimate partner violence (IPV) and gender-based violence (GBV)) in the COVID-19 era, examining sexual behaviours and sexual health outcomes.MethodsA scoping review, compiling both peer-reviewed and grey literature, focused on sexual health (excluding RH, IPV and GBV) and COVID-19 was conducted on 15 September 2020. Multiple bibliographical databases were searched. Study selection conformed to Joanna Briggs Institute (JBI) Reviewers’ Manual 2015 Methodology for JBI Scoping Reviews. We only included English-language original studies.ResultsWe found that men who have sex with men may be moving back toward pre-pandemic levels of sexual activity, and that STI and HIV testing rates seem to have decreased. There was minimal focus on outcomes such as the economic impact on sexual health (excluding RH, IPV and GBV) and STI care, especially STI care of marginalised populations. In terms of population groups, there was limited focus on sex workers or on women, especially women’s sexual behaviour and mental health. We noticed limited use of qualitative techniques. Very few studies were in low/middle-income countries (LMICs).ConclusionsSexual health research is critical during a global infectious disease pandemic and our review of studies suggested notable research gaps. Researchers can focus efforts on LMICs and under-researched topics within sexual health and explore the use of qualitative techniques and interventions where appropriate.

Sign in / Sign up

Export Citation Format

Share Document