Lifetime risk of developing endometrial cancer in Lynch syndrome carriers is very high and females are also at an increased risk of developing ovarian cancer. The aim of the study was to determine the impact of gynecological screening in MSH2 mutation carriers. Gynecological cancer incidence and overall survival was compared in female mutation carriers who received gynecological screening (cases) and in matched controls. Controls were randomly selected from non-screened mutation carriers who were alive and disease-free at the age the case entered the screening program. Median age to diagnosis of gynecological cancer was 54 years in the screened group compared to 56 years in controls (p = 0.50). Stage I or II cancer was diagnosed in 92% of screened patients compared to 71% in the control group (p = 0.17). Two of three deaths in the screened group were the result of ovarian cancer. Mean survival in the screened group was 79 years compared to 69 years in the control group (p = 0.11), likely associated with concomitant colonoscopy screening. Gynecological screening did not result in earlier gynecologic cancer detection and despite screening two young women died from ovarian cancer suggesting that prophylactic hysterectomy with bilateral salpingo-oophorectomy be considered in female mutation carriers who have completed childbearing.

Background A positive genetic test result may impact on a person’s self-concept and affect quality of life. Purpose The purpose of the study was to develop a self concept scale to measure such impact for individuals carrying mutations for a heritable colorectal cancer- Lynch Syndrome (LS). Methods Two distinct phases were involved: Phase 1 generated specific colorectal self-concept candidate scale items from interviews with eight LS carriers and five genetic counselors which were added to a previously developed self-concept scale for BRCA1/2 mutation carriers. Phase II had 115 LS carriers complete the candidate scale and a battery of validating measures. Results A 20 item scale was developed with two dimensions identified through factor analysis: stigma/vulnerability and bowel symptom-related anxiety. The scale demonstrated excellent reliability (Cronbach’s α = .93), good convergent validity by a high correlation with impact of event scale (r(102) = .55, p< .001) and Rosenberg Self-Esteem Scale (r(108) = −.59, p< .001), and a low correlation with the Fear questionnaire (r(108)=.37 p< .001). The scale’s performance was stable across participant characteristics. Conclusions This new scale for measuring self-concept has potential to be used as a clinical tool and as a measure for future studies.

<p><strong>Introduction:</strong> Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated.</p><p><strong>Methods:</strong> A review of the literature, including existing guidelines, was carried out for the years 1985‒2015. Expert consensus was used to define recommendations for initial assessment and followup.</p><p><strong>Results:</strong> Recommendations for newly diagnosed patients’ assessment and optimal ages to initiate followup protocols for von Hippel Lindau disease (VHL), hereditary papillary renal cancer (HPRC), hereditary leiomyomatosis with renal cell carcinoma (HLRCC), Birt-Hogg-Dubé syndrome (BHD), familial paraganglioma-pheochromocytoma syndromes (PGL-PCC), and tuberous sclerosis (TSC) are proposed.</p><p><strong>Conclusions:</strong> Our proposed consensus for structured assessment and followup is intended as a roadmap for the care of patients with hRCC to guide healthcare providers. Although the list of syndromes included is not exhaustive, the document serves as a starting point for future updates.</p>