Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis

Frontiers in Oncology
Tang TangJun Jiang

Abstract

Mutation-caused loss-of-function of factors involved in DNA damage response (DDR) is responsible for the development and progression of ~20% of prostate cancer (PCa). Some mutations can be used in cancer risk assessment and informed treatment decisions. Target capture-based deep sequencing of 11 genes was conducted with total DNA purified from the proband's peripheral blood. Sanger sequencing was conducted to screen potential germline mutations in the proband's family members. Targeted sequencing of a panel of 1,021 genes was done with DNA purified from the tumor tissue. Two previously unreported germline mutations in the DDR pathway, BRCA2 (c.8474_8487delCATACCCTATACAG, p.A2825Vfs*15) and PALB2 (c.472delC, p.Q158Rfs*19) were identified in a patient with metastatic PCa. A specific therapeutic regimen including androgen deprivation therapy, locally radical radiotherapy, and systemic platinum chemotherapy worked well against his cancer. In addition, the metastatic ovarian cancer in the proband's half-sister harboring the same BRCA2 germline mutation also responded well to platinum chemotherapy. The newly identified germline mutations in DDR plays important role in PCa development. Since specific regimen worked well against this c...Continue Reading

References

Jun 1, 1995·Cancer·S J FabozziA M el-Mahdi
Nov 2, 1994·Journal of the National Cancer Institute·D E GoldgarM H Skolnick
Jun 24, 2006·Molecular Cell·Bing XiaDavid M Livingston
Jul 28, 2006·Cold Spring Harbor Symposia on Quantitative Biology·A N J TuttA Ashworth
Feb 9, 2007·Nature·Hannele ErkkoRobert Winqvist
Oct 29, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·David S P TanMartin E Gore
Apr 10, 2013·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Elena CastroRosalind Eeles
Dec 4, 2013·European Urology·C PezaroG Attard
Jan 23, 2014·Nature Communications·Krishna L KanchiLi Ding
Dec 4, 2014·European Urology·Ola Bratt, Niklas Loman
Sep 9, 2015·Annals of Oncology : Official Journal of the European Society for Medical Oncology·E CastroUNKNOWN UKGPCS, EMBRACE and IMPACT studies
Oct 29, 2015·The New England Journal of Medicine·Joaquin MateoJohann S de Bono
Nov 7, 2015·Cell·UNKNOWN Cancer Genome Atlas Research Network
Jul 20, 2016·The New England Journal of Medicine·Colin C PritchardPeter S Nelson
Jan 10, 2017·Nature Communications·Renea A TaylorRobert G Bristow
Jul 18, 2017·Current Problems in Cancer·Patricia BanksShahneen Sandhu
Jul 16, 2015·Cell·Dan RobinsonArul M Chinnaiyan
Dec 14, 2017·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Veda N GiriLeonard G Gomella
May 16, 2019·Journal of the National Comprehensive Cancer Network : JNCCN·James L MohlerDeborah A Freedman-Cass
Jul 12, 2019·Breast Cancer Research and Treatment·Raquel AndrésMaria José Cardiel
Jul 20, 2019·International Journal of Oncology·Shona H LangRuben G W Quek
Aug 8, 2019·Journal of the National Comprehensive Cancer Network : JNCCN·Deborah K ArmstrongAnita M Engh
Jan 9, 2020·CA: a Cancer Journal for Clinicians·Rebecca L SiegelAhmedin Jemal
Feb 23, 2020·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Wassim AbidaSimon Chowdhury
Jul 9, 2020·European Urology·Alan H BryceJohann de Bono
Aug 17, 2020·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Wassim AbidaUNKNOWN TRITON2 investigators

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
biopsy

Software Mentioned

Integrative Genomic Viewer

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.