Related Experiment Video

Updated: Jan 18, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

Associations between Pathogenic Germline Variants in BRCA and Non-Breast/Non-Ovarian Cancer Types in the German

Nicole Zilski^1,2, Robert Roehle³, Stephanie Stegen^1,4

¹Hereditary Breast and Ovarian Cancer Center, Department of Gynecology, Campus Mitte, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Geburtshilfe Und Frauenheilkunde

|January 16, 2026

Abstract

Introduction:

Families with pathogenic germline variants (pv) in BRCA1/2 may have besides breast and ovarian cancer an elevated lifetime risk for other cancer types.

Material And Methods:

Data and pedigree information from 1852 family members of 286 BRCA1/2 positive families were analyzed. Genetic testing was conducted between 2015 and 2017 at the HBOC center at Charité - Universitätsmedizin Berlin. Relative cancer risk (RR) was calculated by comparing observed cancer incidence with the expected incidence in the German population.

Results:

BRCA1/2 positive families showed an elevated cancer risk for gastric and cervical cancer regardless of BRCA status. The relative risk of gastric cancer was higher in BRCA2 carriers compared to BRCA1 carriers (gBRCA1 RR 1.42; 95% CI: 0.65-2.69 vs. gBRCA2 RR 1.88; 95% CI: 0.75-3.87). Similarly, the relative risk for cervical cancer was also greater in BRCA2 carriers than in BRCA1 carriers (gBRCA1 RR 1.88; 95% CI: 0.69-4.09 vs. gBRCA2 RR 2.09; 95% CI: 0.56-5.35). Additionally, BRCA2 families showed an increased risk of pancreatic cancer (RR 1.56; 95% CI, 0.50 to 3.63). No significant associations were found for other cancer entities.

Conclusion:

In the present study, an increased risk of gastrointestinal cancer was observed in German families with pathogenic BRCA1/2 variants, consistent with findings from previous research. Potential new associations with cervical cancer were also identified, warranting confirmation through large prospective studies. These findings highlight the importance of developing additional screening programs or preventive strategies for BRCA carriers, especially with regard to upper gastrointestinal tract malignancies.

Keywords:

BRCA (breast cancer antigen)cancer registry genetics

More Related Videos

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Identifying the Effects of BRCA1 Mutations on Homologous Recombination using Cells that Express Endogenous Wild-type BRCA1

Published on: February 17, 2011

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

In Vivo and Ex Vivo Approaches to Study Ovarian Cancer Metastatic Colonization of Milky Spot Structures in Peritoneal Adipose

Published on: October 14, 2015

Related Concept Videos

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Cancer Prevention

Cancer Prevention

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

Cancer-Critical Genes II: Tumor Suppressor Genes

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

Cancer-Critical Genes I: Proto-oncogenes

Cancer-Critical Genes I: Proto-oncogenes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

Articles linked to this work by shared authors, journal, and citation graph.

Dronabinol for nightmares in post-traumatic stress disorder: a randomized controlled trial.

Nature medicine·2026

Prospective evaluation of patient reported outcome measures (PROMs) and correlation with clinical parameters of chronic ocular graft-versus-host disease (GVHD).

The ocular surface·2026

Not all information is equally important: informed consent to genetic testing for hereditary cancer.

Journal of cancer research and clinical oncology·2026

Multiomic Factor Analysis for Pathologic Complete Response after Pembrolizumab + Trastuzumab + Pertuzumab in HER2-Enriched Early Breast Cancer: WSG-Keyriched-1 Trial.

Clinical cancer research : an official journal of the American Association for Cancer Research·2025

Prevalence of Incidental Breast Cancer and Precursor Lesions in Carriers of Pathogenic Germline Variants Undergoing Risk-Reducing Mastectomy.

Anticancer research·2025

Treating nightmares in post-traumatic stress disorder with the α-adrenergic agents clonidine and doxazosin: protocol for a phase II randomised, double-blind, placebo-controlled parallel-group study (ClonDoTrial).

BMJ open·2025

See all related articles