# Oncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High‐Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale

**Authors:** Elena Maccaroni, Rebecca Chiariotti, Riccardo Giampieri, Francesca Bianchi, Cristiana Brugiati, Laura Belvederesi, Elisa Ambrosini, Natalia Chiodi, Emma Nicol Serritelli, Francesca Morgese, Veronica Agostinelli, Giulia Mentrasti, Cecilia Copparoni, Alice Magnarini, Chiara De Filippis, Elena Burattini, Raffaella Bracci, Rita Chiari, Michela Del Prete, Renato Bisonni, Luca Faloppi, Nicola Battelli, Rosa Rita Silva, Rossana Berardi

PMC · DOI: 10.1155/humu/7754087 · Human Mutation · 2026-03-09

## TL;DR

This study evaluates the effectiveness of oncological genetic counseling using a translated Genomics Outcome Scale questionnaire, finding it useful for informing patients about cancer risks and management.

## Contribution

The study introduces the use of the Italian-translated Genomics Outcome Scale to assess the efficacy of oncological genetic counseling in high-risk cancer patients.

## Key findings

- Most patients affirmed understanding of genetic counseling, with younger and more educated individuals showing higher empowerment.
- Genetic test results and education levels significantly influenced responses to questions about risk understanding and decision-making.
- The GOS questionnaire confirmed the effectiveness of genetic counseling in improving patient awareness and future planning.

## Abstract

Validated tools assessing oncological genetic counseling (OGC) quality are lacking.

We assessed OCG effectiveness using italian‐translated version of the Genomics Outcome Scale (GOS) questionnaire. Clinical variables were collected and their association with different answers was assessed by Fisher′s exact test or Chi‐square test for either dichotomous or other categorical variables, respectively, with level of statistical significance p = 0.05.

Between November 2024 and February 2025, 209 subjects who received the complete OGC program at Our Center responded to the questionnaire; median age was 56 years (25–81). Most (76%) had breast cancer, 72% received a negative test, 15% positive test, and 13% noninformative test with variant of unknown significance (VUS). Most patients answered affirmatively to Question 1, focused on OGC understanding: age (p = 0.0181) and education (p = 0.0028) yielded different answers. Question 2, assessing relatives risk understanding, was answered completely/partially affirmative by 94% of subjects: test result (negative noninformative vs. positive vs. VUS) was associated (p = 0.0175) with different answers. To Question 3, related to concern, 65% confirmed their worry: education (p = 0.0392) and cancer type (p = 0.0128) yielded different answers. In Question 4, focused on surveillance understanding, 77% declared full or partial awareness, regardless of examined factors. In Question 5, enquiring decisional ability for themselves or family members, 72% stated they were completely/partially able to make decisions. Education (p = 0.0287) and genetic test result (p = 0.0090) yielded different answers. In Question 6, reflecting future planning, 69% responded completely/almost completely affirmatively, 17% were uncertain, and 14% responded partially/completely negatively, regardless of examined clinical factors.

GOS questionnaire confirms that OGC is useful and effective to inform patients about their condition, surveillance, and prevention. Higher levels of empowerment were seen in younger patients and those with higher education.

## Linked entities

- **Diseases:** breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** PMS2 (PMS1 homolog 2, mismatch repair system component) [NCBI Gene 5395] {aka HNPCC4, LYNCH4, MLH4, MMRCS4, PMS-2, PMSL2}, BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, RAD50 (RAD50 double strand break repair protein) [NCBI Gene 10111] {aka NBSLD, RAD502, hRad50}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, PALB2 (partner and localizer of BRCA2) [NCBI Gene 79728] {aka BROVCA5, FANCN, PNCA3}, MSH6 (mutS homolog 6) [NCBI Gene 2956] {aka GTBP, GTMBP, HNPCC5, HSAP, LYNCH5, MMRCS3}, RAD51C (RAD51 paralog C) [NCBI Gene 5889] {aka BROVCA3, FANCO, R51H3, RAD51L2}, EPCAM (epithelial cell adhesion molecule) [NCBI Gene 4072] {aka Ber-Ep4, BerEp4, DIAR5, EGP-2, EGP314, EGP40}, MLH1 (mutL homolog 1) [NCBI Gene 4292] {aka COCA2, FCC2, HNPCC, HNPCC2, LYNCH2, MLH-1}, MSH2 (mutS homolog 2) [NCBI Gene 4436] {aka COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1}, RAD51D (RAD51 paralog D) [NCBI Gene 5892] {aka BROVCA4, R51H3, RAD51L3, TRAD}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, CHEK2 (checkpoint kinase 2) [NCBI Gene 11200] {aka CDS1, CHK2, HuCds1, LFS2, PP1425, RAD53}, ATM (ATM serine/threonine kinase) [NCBI Gene 472] {aka AT1, ATA, ATC, ATD, ATDC, ATE}
- **Diseases:** ovary (MESH:D010051), gastrointestinal cancer (MESH:D005770), breast cancer (MESH:D001943), invasive (MESH:D009361), prostate (MESH:D011472), LS (MESH:D007888), OGC (MESH:D000072716), colorectal, pancreatic, and gastric cancer (MESH:D015179), HBOC (MESH:D061325), GI and urological cancer (MESH:D014571), MLPA (MESH:D020422), VUS (MESH:D009382), Lynch Syndrome (MESH:D003123), Gastrointestinal Hereditary Tumors (MESH:D013132), pancreatic cancer (MESH:D010190), GOS (MESH:C538175), hereditary cancers (MESH:D009386), Melanoma (MESH:D008545), anxiety (MESH:D001007), familial melanoma (OMIM:155600), Cancer (MESH:D009369)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Cell lines:** GCOS-24 — Mus musculus (Mouse), Hybridoma (CVCL_C5HY)

## Full text

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## Figures

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## References

36 references — full list in the complete paper: https://tomesphere.com/paper/PMC12968728/full.md

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Source: https://tomesphere.com/paper/PMC12968728