Hereditary Risk Assessment of Cancer Using Clinical History in Patients Diagnosed with Breast or Ovarian Cancer...

Individuals with the breast cancer 1 gene (BRCA1) and breast cancer 2 gene (BRCA2) associated hereditary breast and ovarian cancer (HBOC) have an elevated risk of developing breast cancer in both men and women. The aim of the study was to assess the risk of HBOC using clinical history in patients diagnosed with breast or ovarian cancer (OC) receiving treatment.

A cross-sectional study was conducted among 180 patients diagnosed with breast or OC, selected using a nonprobability convenience sampling technique. Data was collected using a self-structured tool for the sociodemographic and clinical variables, and the CanRisk tool was used to assess the estimated risk percentage value of BRCA1 or BRCA2 pathogenic or likely pathogenic variants based on the clinical variables. Data was analyzed using IBM SPSS version 20, Mann-Whitney U -test, and Kruskal-Wallis test, with P < 0.05 as the significance level.

The results indicate an increased hereditary risk associated with early breast or OC diagnosis, married, late menarche, early menopause, young maternal age at first childbirth, and family history in patients diagnosed with breast or OC. A statistically significant association ( P < 0.05) was found between estimated risk percentages for pathogenic or likely pathogenic variants BRCA1 or BRCA2 (including BRCA1, BRCA2, PALB2, CHEK2, ATM, BARD1, RAD51D, RAD51C, or BRIP) with the selected sociodemographic and clinical variables.

Genetic counseling and testing for patients diagnosed with breast or OC can identify HBOC risk, reducing complications and mitigating lifetime cancer risk through timely assessment and awareness.