Document Detail

Familial prostate cancer: the damage done and lessons learnt.
MedLine Citation:
PMID:  23318356     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the presence of a prostate adenocarcinoma with a Gleason score of 7 (3+4). He was treated with radical prostatectomy. Repeat PSA tests revealed a gradual rise in PSA levels despite androgen deprivation therapy with bicalutamide and goserelin over the course of 3 years. Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis.
INVESTIGATIONS: PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene.
DIAGNOSIS: Early-onset and aggressive prostate cancer associated with a nonsense French Canadian BRCA2 founder mutation, c.5857G>T (p.Glu1953(*)).
MANAGEMENT: Radical prostatectomy, hormone therapy with bicalutamide and goserelin, palliative chemotherapy initially with docetaxel plus prednisone then with mitoxantrone plus prednisone, as well as genetic counselling and testing for the proband and his family members.
Nassim Taherian; Nancy Hamel; Louis R Bégin; Tarek A Bismar; David E Goldgar; Bing-Jian Feng; William D Foulkes
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2013-01-15
Journal Detail:
Title:  Nature reviews. Urology     Volume:  10     ISSN:  1759-4820     ISO Abbreviation:  Nat Rev Urol     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-02-11     Completed Date:  2013-10-29     Revised Date:  2014-02-06    
Medline Journal Info:
Nlm Unique ID:  101500082     Medline TA:  Nat Rev Urol     Country:  England    
Other Details:
Languages:  eng     Pagination:  116-22     Citation Subset:  IM    
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MeSH Terms
BRCA2 Protein / genetics
Fatal Outcome
Homeodomain Proteins / genetics
Middle Aged
Polymorphism, Single Nucleotide / genetics
Prostatic Neoplasms / diagnosis*,  genetics*
Grant Support
5U01CA089600-09/CA/NCI NIH HHS; U01 CA089600/CA/NCI NIH HHS
Reg. No./Substance:
0/BRCA2 Protein; 0/BRCA2 protein, human; 0/HOXB13 protein, human; 0/Homeodomain Proteins

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