A hereditary ovarian cancer family with rare pathogenic splicing mutation: Implications for variant interpretation.

Cancer Genetics
Ke WangJinpu Yu

Abstract

The BRCA1/2 gene is important for assessing the risk of familial/hereditary ovarian cancer (OC). This case is a patient with OC, and two of her immediate family members are cancer patients. We sequenced the coding and splicing regions of 42 OC susceptibility genes, and found a rare pathogenic splicing mutation BRCA1:c.132C > T (p.cys44 =) in 2 patients. Although the mutation is synonymous, software prediction and functional verification have shown that it affects alternative splicing and leads to frameshift mutations (c.131_134del). Chromosome microarray analysis of the tissue samples revealed the presence of a BRCA1 gene deletion with a fragment size of 1.42 Mb and an HRD score of 71. In addition, the proband showed a sensitive response to platinum treatment. This case suggests the clinical significance of OC susceptibility genes sequencing and HRD scoring in screening hereditary OC families.

References

Apr 10, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Sining Chen, Giovanni Parmigiani
Oct 19, 2011·Proceedings of the National Academy of Sciences of the United States of America·Tom WalshElizabeth M Swisher
Jun 20, 2012·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Kathryn AlsopGillian Mitchell
Mar 29, 2014·European Journal of Human Genetics : EJHG·Ane Y SteffensenThomas vO Hansen
Aug 6, 2014·Breast Cancer Research : BCR·Johnathan A WatkinsAndrew N J Tutt
Feb 6, 2015·CA: a Cancer Journal for Clinicians·Lindsey A TorreAhmedin Jemal
Jun 16, 2015·BioMed Research International·Angela TossLaura Cortesi
Apr 12, 2016·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Jonathan A LedermannRebecca S Kristeleit
Jan 6, 2017·CA: a Cancer Journal for Clinicians·Rebecca L SiegelAhmedin Jemal
Apr 11, 2017·Gynecologic Oncology·Whitney S GraybillBradley J Monk
Feb 16, 2018·Human Mutation·Timothy R RebbeckKatherine L Nathanson
May 5, 2018·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Angel ChaoRen-Chin Wu

❮ Previous
Next ❯

Related Concepts

Related Feeds

Breast Cancer: BRCA1 & BRCA2

Mutations involving BRCA1, found on chromosome 17, and BRCA2, found on chromosome 13, increase the risk for specific cancers, such as breast cancer. Discover the last research on breast cancer BRCA1 and BRCA2 here.

Alternative splicing

Alternative splicing a regulated gene expression process that allows a single genetic sequence to code for multiple proteins. Here is that latest research.

Related Papers

Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft
Y A Guseva, S D Denisov
The Journal of Family Practice
Kate Rowland, Sarah-Anne Schumann
Best Practice & Research. Clinical Obstetrics & Gynaecology
Noa AminAngela George
© 2021 Meta ULC. All rights reserved