↓ Skip to main content

Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Overview of attention for article published in BMC Cancer, February 2018
Altmetric Badge

Citations

dimensions_citation
6 Dimensions

Readers on

mendeley
22 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
Published in
BMC Cancer, February 2018
DOI 10.1186/s12885-018-4028-z
Pubmed ID
Authors

Tú Nguyen-Dumont, Zhi L. Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Andrew Lonie, Miroslav K. Kapuscinski, Khalid Mahmood, ABCFR, David E. Goldgar, Graham G. Giles, Ingrid Winship, John L. Hopper, Melissa C. Southey

Abstract

Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in other breast cancer susceptibility genes. In a family known to carry the high-risk mutation PALB2:c.3113G>A (p.Trp1038*), whole-exome sequencing was performed on germline DNA from four affected women, three of whom were mutation carriers. RNASEL:p.Glu265* was identified in one of the PALB2 carriers who had two primary invasive breast cancer diagnoses before 50 years. Gene-panel testing of BRCA1, BRCA2, PALB2 and RNASEL in the Australian Breast Cancer Family Registry identified five carriers of RNASEL:p.Glu265* in 591 early onset breast cancer cases. Three of the five women (60%) carrying RNASEL:p.Glu265* also carried a pathogenic mutation in a breast cancer susceptibility gene compared with 30 carriers of pathogenic mutations in the 586 non-carriers of RNASEL:p.Glu265* (5%) (p < 0.002). Taqman genotyping demonstrated that the allele frequency of RNASEL:p.Glu265* was similar in affected and unaffected Australian women, consistent with other populations. Our study suggests that RNASEL:p.Glu265* may be a genetic modifier of risk for early-onset breast cancer predisposition in carriers of high-risk mutations. Much larger case-case and case-control studies are warranted to test the association observed in this report.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 22 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 23%
Student > Ph. D. Student 5 23%
Other 1 5%
Lecturer > Senior Lecturer 1 5%
Librarian 1 5%
Other 1 5%
Unknown 8 36%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 41%
Medicine and Dentistry 3 14%
Agricultural and Biological Sciences 1 5%
Engineering 1 5%
Unknown 8 36%