Comparison of lifestyle, hormonal and medical factors in women with sporadic and Lynch syndrome-associated endometrial cancer: A retrospective case-case study

Abstract

Abstract. Data available on lifestyle-associated hormonal and medical factors among endometrial cancer (EC)-affected women who carry the Lynch syndrome (LS) mutation is limited. The aim of the present retrospective case study was to compare the reproductive and medical history, as well as lifestyle-associated factors, among patients with LS and sporadic EC. The study population consisted of 50 verified germline mismatch repair (MMR) gene mutation carriers diagnosed with EC, and 110 sporadic EC patients. Data were collected using postal questionnaires. Apart from the mean age at the time of the EC diagnosis (LS, 48.7 years compared with sporadic patients, 55.2 years; P<0.0001), the characteristics of sporadic and LS EC patients were similar with regard to body mass index (BMI) at age 18, 40 or at the time of the survey, and smoking and alcohol consumption. LS women reported a significantly lower rate of spontaneous abortion (P= 0.043) and also more frequent use of contraceptives (P= 0.004). The prevalence of co-morbidities, including diabetes, atherosclerosis, hypercholesterolemia and hypertension, was similar between the LS and the sporadic groups. A trend for a higher prevalence of endometriosis among mutation carriers was detected (16.0 vs. 8.1%, P= 0.137). As anticipated, the prevalence of gastrointestinal tract, urinary tract and ovarian cancer was higher among the LS women (P<0.0001, P= 0.006 and P= 0.056, respectively). Co-morbidity and lifestyle-associated factors appeared to be comparable among patients with LS and sporadic EC. The reported difference in the use of contraceptives warrants further investigation. Future studies are also required to address the possible association between LS and endometriosis.

Factors associated with decision-making on prophylactic hysterectomy and attitudes towards gynecological surveillance among women with Lynch syndrome (LS): a descriptive study

“…The strengths of our study include a well-defined population of women with LS who were all verified as germline pathogenic variant carriers and were not just women who had a strong family history of EC or CRC. The study cohort identified from the LSRFi included 112 women, and the response rate was quite high (68%), which is in line with previous questionnaire-based studies among subjects with a hereditary cancer predisposition [14,15].…”

“…The study cohort included Finnish women with inherited pathogenic MMR gene variants identified from the nationwide Finnish LS Registry (LSRFi), [11] which has been described in more detail previously [12,13,14,15]. Briefly, the LSRFi includes 300 families and approximately 1400 verified germline MMR variant carriers (http://www.…”

Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women with lynch syndrome

“…Even though inherited gene variants conferring gynecological cancer risks do not have impact on fertility as such [ 17 , 18 ], some reports have implicated that germline testing results have impact on reproductive decisions [ 8 , 9 ]. Some individuals with pathogenic MMR variants have even been reported to consider prenatal genetic testing and consider it ethical [ 8 , 19 ]. Therefore, it is very important to collect LS carriers’ subjective views and experiences of genetic testing on their reproductive decisions in order to guide and help clinicians in counselling.According to our results, testing positive for a LS-causing variant appears not to have significant impact on family planning or negative influence on relationships among Finnish women.…”

Endometrial cancer in Lynch syndrome

“…Staff et al reported that Type II diabetes was related to an elevated risk of LS‐EC and diabetic LS women were prone to be more overweight than nondiabetic LS women; however, they did not find any association between BMI and increased risk of LS‐EC 24 . Additionally, apart from the two studies that found no significant differences in body mass index (BMI) between MSI and microsatellite stable (MSS) patients 25,26 . Most studies 13,27‐30 suggested that patients with dMMR or MSI‐high (MSI‐H), or MMR germline PVs had a lower BMI.…”