Screening and Preventive Behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma

Background: Prevention benefits from predictive genetic testing for cancer will only be fully realized if appropriate screening is adopted after testing. The current study assessed screening and preventive behaviors during 12 months after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma (HNPCC) in an Australian clinical cohort. Methods: Participants received predictive genetic testing for HNPCC at one of five Australian familial cancer clinics. Data on self-reported screening behaviors (colonoscopy, and endometrial sampling and transvaginal ultrasound for women) and prophylactic surgery (colectomy, and hysterectomy and bilateral oophorectomy for women) were collected using postal questionnaires before (baseline) and 12 months after receipt of genetic test results. Age, gender, perceived risk of cancer, and cancer-specific distress were assessed as predictors of colonoscopic screening. Results: In the current study, 114 participants returned baseline questionnaires (32 carriers and 82 noncarriers of an HNPCC mutation). Ninety-eight participants also returned a 12-month follow-up questionnaire. Of those 25 years, 73% reported having had a colonoscopy before genetic testing. At follow-up, 71% (15 of 25) of carriers and 12% (8 of 65) of noncarriers reported having a colonoscopy in the 12 months after receipt of test results. The reduction in colonoscopy among noncarriers was statistically significant (P < 0.001). High perceived risk was associated with colonoscopy at baseline. At follow-up, mutation status was the only variable significantly associated with colonoscopy. Among female mutation carriers, 47% reported having transvaginal ultrasonography and 53% endometrial sampling during follow-up. There was low uptake of prophylactic surgery for colorectal, endometrial, or ovarian carcinomas. Conclusions: The majority of individuals reported appropriate screening behaviors after predictive genetic testing for HNPCC. The small group of noncarriers who had screening after genetic testing might benefit from additional counseling. Cancer 2005. © 2005 American Cancer Society

Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants are grouped together. Inheritance has been indicated where familial samples were available: negative indicates negative for variant and N/A sample not available. De novo events have only been noted where both parental samples were available and found to be negative for the change. Previously reported refers to a variant being described in either ClinVar, HGMD, or a publication in a peer-reviewed journal via a PubMed search. Variants were classified consistent with previous MPS publications of DSD cohorts [8, 10] which were based on ACMG guidelines [15]. VUS were called for three reasons: 1 = fits phenotype but predicted to be benign; 2 = damaging but doesn’t fit phenotype; or 3 = variant in the AR repetitive region. Patients marked with an asterisk were identified to have two or more diagnostic gene variants. Null variants (frameshifts, splice sites mutations, and premature stop codons) are shown in bold. Patients have been classified based on clinical notes provided, according to the recommended classification of DSD in the Chicago consensus report. Classifications: CGD complete gonadal dysgenesis, DASA disorders of androgen synthesis or action, DSD DSD of “unknown” origin; hypospadias, LCH Leydig cell hypoplasia, OT ovotesticular DSD, PGD partial gonadal dysgenesis, PMDS persistent Müllerian duct syndrome; syndromic, T testicular DSD. Related affected individuals are indicated. File is in Excel spreadsheet format. (XLSX 47 kb

Additional file 4 of Mapping age- and sex-specific HIV prevalence in adults in sub-Saharan Africa, 2000–2018

Additional file 4: Supplemental results.1. README. 2. Prevalence range across districts. 3. Prevalence range between sexes. 4. Prevalence range between ages. 5. Age-specific district ranges