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

Abass Shaibu Danbaki¹, Christian Opoku Asamoah¹, Gideon Okyere Mensah¹

¹Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana.

Current Issues in Molecular Biology

|November 26, 2025

Summary

Pathogenic variants in the FANCC gene cause familial accessory breasts, a condition more common in Black and Asian populations. This genetic finding impacts understanding, counseling, and personalized medicine for this condition.

Keywords:

FANCC gene accessory breasts comorbidities multiplex family polymastia polythelia secondary findings whole exome sequencing

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Area of Science:

Genetics
Human Anatomy

Background:

Accessory breasts, extra breast tissue along the milk line, are more prevalent in Black and Asian populations and affect both sexes.
Previous research has not identified the genetic causes of accessory breasts.

Purpose of the Study:

To determine the genetic etiology of accessory breasts in a multiplex family with affected female siblings.
To identify secondary findings (SFs) associated with comorbidities.

Main Methods:

Clinical data and saliva samples collected from family members.
Whole-exome sequencing performed on DNA from saliva samples.
Variant calling using Sentieon workflow and classification based on ACMG guidelines.

Main Results:

Segregation analysis identified 12 candidate genes, with FANCC and PRSS50 as top candidates.
Two pathogenic variants in FANCC (c.360del and c.355_358del) were identified as the most probable causal variants.
Ten other genes were implicated in comorbidities, with SFs involving TTR and RYR1.

Conclusions:

Pathogenic variants in FANCC are confirmed to cause familial accessory breasts.
These findings offer insights into pathophysiology, genetic counseling, and personalized medicine approaches.