Identification of hereditary cancer in the general population: development and validation of a screening questionnaire for obtaining the family history of cancer

Abstract

One of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection and management. The aim of the study is to create and validate a questionnaire to identify individuals with possible risk for hereditary cancer predisposition syndromes (HCPS), using different strategies in a Cancer Prevention Service in Brazil. The primary screening questionnaire (PSQ) was developed to identify families at‐risk for HCPS. The PSQ was validated using discrimination measures, and the reproducibility was estimated through kappa coefficient. Patients with at least one affirmative answer had the pedigree drawn using three alternative interview approaches: in‐person, by telephone, or letter. Validation of these approaches was done. Kappa and intraclass correlation coefficients were used to analyze data's reproducibility considering the presence of clinical criteria for HCPS. The PSQ was applied to a convenience sample of 20,000 women of which 3121 (15.6%) answered at least one affirmative question and 1938 had their pedigrees drawn. The PSQ showed sensitivity and specificity scores of 94.4% and 75%, respectively, and a kappa of 0.64. The strategies for pedigree drawing had reproducibility coefficients of 0.976 and 0.850 for the telephone and letter approaches, respectively. Pedigree analysis allowed us to identify 465 individuals (24.0%) fulfilling at least one clinical criterion for HCPS. The PSQ fulfills its function, allowing the identification of HCPS at‐risk families. The use of alternative screening methods may reduce the number of excluded at‐risk individuals/families who live in locations where oncogenetic services are not established.

From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America

“…Keeping in line with the above estimates, we could expect approximately 100 cases with a path_MMR variant. Unfortunately, genetic services are still underdeveloped across Latin America, and access to genetic testing and counseling is very limited in the region …”

Identification of Women at Risk for Hereditary Breast and Ovarian Cancer in A Sample of 1000 Slovenian Women: A Comparison of Guidelines

“…Consequently, recent updates of the referral guidelines recommend referral of women with less remarkable family history of cancer (8). Studies that examined older versions of NCCN guidelines for HBOC referral of women from the general population identi ed more women with each update (17,22,23). Our study reveals that the NCCN 2019 guidelines identify 16.7% of women from the general Slovenian population as high risk for HBOC.…”

“…The criteria that selected these women as high-risk group were a BRCA1/2 pathogenic variant present in the family, patient or a FDR with two or more primary breast cancers, ovarian cancer, breast cancer before age 45 or male breast cancer, or had a combination of three or more speci c cancers present in the family. These shared criteria may represent the core criteria of the guidelines, identifying the highest risk women, since it has already been suggested that agreement of multiple guidelines might be considered for the selection of women with the highest risk for the pathogenic variant, viewing each guideline as an 'expert' and all guidelines as an 'expert panel' (22,23).…”

“…Clinical guideline's speci city and sensitivity for selection of pathogenic variant carriers from women with a con rmed diagnosis of breast or gynecological cancers have been estimated in several studies (18)(19)(20)(21). There have, however, only been a few previous studies to estimate the number of women from the general population who t the high-risk criteria using NCCN guidelines released in years 1999-2015 and estimated the numbers of the high-risk women identi ed were reported to be less than 1% (NCCN 1999) (17), 7.8% (NCCN 2006) (22), and14.1% (NCCN 2012) (23). Another study identi ed 20.8% of women from the general population as high-risk using NCCN 2004 guidelines; however, personal and family history of breast and ovarian cancer in the tested cohort was well above average (24).…”

A regional population‐based hereditary breast cancer screening tool in Italy: First 5‐year results

“…The first two modalities of invitation provided a very low rate of adhesion (11.4% and 16%, respectively), lower than our rate of acceptance. The highest rate of adherence was reached by the phone call (72.6%), demonstrating the validity for this approach for identifying families at risk for BC . However, the telephone approach needs dedicated personnel, and expensive costs for a large regional screening program.…”