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

Abass Shaibu Danbaki; Christian Opoku Asamoah; Gideon Okyere Mensah; Bruce Tsri; Tamara D. Busch; Fareed Kow Nanse Arthur; Ishmael Kyei; Lawrence Kobina Blay; Samuel Mensah; Adebowale A. Adeyemo; Azeez Butali; Peter Donkor; Lord Jephthah Joojo Gowans

doi:10.3390/cimb47110875

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

Journal article

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

Abass Shaibu Danbaki, Christian Opoku Asamoah, Gideon Okyere Mensah, Bruce Tsri, Tamara D. Busch, Fareed Kow Nanse Arthur, Ishmael Kyei, Lawrence Kobina Blay, Samuel Mensah, Adebowale A. Adeyemo, …

Current issues in molecular biology, Vol.47(11), 875

10/22/2025

DOI: 10.3390/cimb47110875

PMCID: PMC12650935

PMID: 41296379

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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. After segregation analysis, 12 candidate genes emerged. Among these, PRSS50 and FANCC emerged as top candidates, being implicated in breast diseases. However, two variants in FANCC (c.360del; p.His120GlnfsTer24 and c.355_358del; p.Ser119IlefsTer24) were selected as the most probable causal variants because of the role of this gene in hereditary breast and ovarian cancer syndromes. The remaining ten genes were reported as potentially accounting for comorbidities segregating with accessory breasts. Reported SFs involve TTR and RYR1. In conclusion, pathogenic variants in FANCC cause familial accessory breasts. These novel observations impact pathophysiology, genetic counselling, and personalised medicine.

accessory breasts

polymastia

polythelia

multiplex family

whole exome sequencing

<italic>FANCC</italic> gene

secondary findings

comorbidities

Details

Title: Subtitle: Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family
Creators: Abass Shaibu Danbaki - Kwame Nkrumah University of Science and Technology
Christian Opoku Asamoah - Kwame Nkrumah University of Science and Technology
Gideon Okyere Mensah
Bruce Tsri - Kwame Nkrumah University of Science and Technology
Tamara D. Busch - University of Iowa
Fareed Kow Nanse Arthur - Kwame Nkrumah University of Science and Technology
Ishmael Kyei - Kwame Nkrumah University of Science and Technology
Lawrence Kobina Blay - Kwame Nkrumah University of Science and Technology
Samuel Mensah - Kwame Nkrumah University of Science and Technology
Adebowale A. Adeyemo - National Human Genome Research Institute
Azeez Butali - University of Iowa
Peter Donkor - Kwame Nkrumah University of Science and Technology
Lord Jephthah Joojo Gowans - Kwame Nkrumah University of Science and Technology
Resource Type: Journal article
Publication Details: Current issues in molecular biology, Vol.47(11), 875
DOI: 10.3390/cimb47110875
PMID: 41296379
PMCID: PMC12650935
NLM abbreviation: Curr Issues Mol Biol
ISSN: 1467-3045
eISSN: 1467-3045
Publisher: MDPI
Language: English
Date published: 10/22/2025
Academic Unit: Oral Pathology, Radiology and Medicine; Stead Family Department of Pediatrics; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9985019035102771

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