Pathogenic <i>FANCC</i> Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family.

ABSTRACT: Accessory breasts denote the formation of extra breast tissue along the milk line, and are known to be more prevalent among Black and Asian populations, affecting both genders. This first-ever study aimed to determine the genetic aetiology of accessory breasts in a multiplex family, where all female siblings present with bilateral accessory breasts. The study also ascertained secondary findings (SFs) responsible for comorbidities. Clinical data and saliva samples were obtained from all family members. Ultrasound and histopathology confirmed the diagnosis. Whole-exome sequencing was conducted on DNA samples obtained from the saliva, with variant calling conducted utilising the Sentieon workflow. Variant classification was based on American College of Medical Genetics and Genomics guidelines

SUBMITTER: Danbaki AS 

PROVIDER: S-EPMC12650935 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature