Fig. 1: Overview of the study design and sample cohort. | Nature Communications

Fig. 1: Overview of the study design and sample cohort.

From: Impact of BRCA mutations, age, surgical indication, and hormone status on the molecular phenotype of the human Fallopian tube

Fig. 1

a Left: a total of 125 benign Fallopian tubes were collected: control FTs with no known pathogenic mutations (non-BRCAm; N = 70), pathogenic germline BRCA1 mutation carriers (BRCAm; N = 28), and pathogenic germline BRCA2 carriers (N = 27). Middle: Some sections from fimbria were imaged following H&E staining. Right: DNA, RNA, and protein extraction from FFPE to generate whole-genome bisulfite (WGBS), mRNA, and protein quantification matrices. b Distribution of 105 FTs which have data for one or more of the -omics assays. Sample number is shown by BRCA1/2 germline status colored by menopause status. From these 105 FTs, 92 have high quality data for all three assays. c Age distribution at the time of surgery was not different by BRCA status (F test P value = 0.54 from ANOVA model; BRCA1m n = 28; BRCA2m n = 27; non-BRCAm n = 70). d Distribution of postpartum samples and self-reported race by BRCA status; Black FTs were overrepresented in non-BRCAm and postpartum FTs were present exclusively in the non-BRCAm group. e, f Pathogenic germline mutations in our cohort were validated in the WGBS data. Mutations in BRCA1 included 11 frameshift, five missense, one splice site, six nonsense, and one large deletion. Mutations in BRCA2 included 13 frameshift, one missense, one splice site, and four nonsense mutations. The specific types of mutations were not known for one BRCA1 and one BRCA2 patient, and one BRCA1 sample had a large deletion spanning multiple exons; mutations for these 3 samples are not shown. Portions of this figure were created in BioRender. Beddows, I. (2025) https://BioRender.com/r66m378.

Back to article page