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Cancer Prone Disease Section
Review
Hereditary prostate cancer
Johanna Schleutker
Institute of Medical Technology, University of Tampere and Tampere University Hospital, Tampere, Finland
(JS)
Published in Atlas Database: June 2008
Online updated version : http://AtlasGeneticsOncology.org/Kprones/HeredProstateCancerID10055.html
DOI: 10.4267/2042/44502
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology
increases with increasing number of affected relatives
and their decreasing age at diagnosis. The incidence
and absolute risk of prostate cancer varies among
different ethnic backgrounds. However, increase in
relative risk for males with a positive family history of
the disease is essentially the same in all studied
populations.
In epidemiological studies increased risk of breast
cancer, ovarian cancer, gastric cancer and liver cancer,
Hodgkin's disease, leukaemia and melanoma have been
detected in relatives of prostate cancer patients.
Identity
Alias: Familial prostate cancer
Note: Form of prostate cancer with a familial
background, OMIM: 176807, 601518.
Inheritance: The inherited form is predicted to account
for 5-9% of prostate cancers. Multiple forms of
inheritance have been suggested based on segregation
analyses: autosomal dominant (rare, high-penetrant
gene, mostly linked to disease onset at a younger age),
autosomal recessive, X-linked (mostly linked to lateonset cases), multi-factorial and co-dominant.
Treatment
Curative treatment is possible for localized prostate
cancer.
Men with strong positive family history should be
offered risk assessment and regular follow-ups. Early
detection is possible through PSA (prostate specific
antigen) testing and DRE (digital rectal examination).
In rare families where known mutations are
segregating, genetic testing may be possible.
Clinics
Note
Hereditary/familial prostate cancer is a heterogeneous
disease entity with complex genetics.
Phenotype and clinics
The definition of hereditary prostate cancer (HPC) is
based on the family history (pedigree). The suggested
criteria include 1) nuclear family with three (or more)
cases of prostate cancer, 2) prostate cancer in three
successive generations, or 3) at least two men
diagnosed with the disease before the age of 55 years.
Familial aggregation of cases that don't fulfill the HPC
criteria are defined as familial prostate cancer. The
onset of HPC is on average 6 years earlier than of
sporadic prostate cancer but the clinical course is
otherwise no different.
Prognosis
Prognosis is more dependent on extent of the disease at
diagnosis than on the genetic susceptibility. PSA
testing is as efficient in HPC families as in the general
population.
Genes involved and proteins
Note
There is strong evidence from epidemiological and
family studies in support of genetic predisposition to
prostate cancer. Despite this, no major susceptibility
gene has been identified. It is commonly accepted that
predisposition may be mediated through multiple
common low-to-moderate-penetrance risk alleles. Only
few rare (high-risk) mutations in candidate genes have
Neoplastic risk
There is a greater risk of prostate cancer for brothers
and sons of men with the disease. The
relative risk of prostate cancer is about two-fold in
first-degree relatives of affected men and the risk
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Schleutker J
Probably involved in tRNA maturation, by removing a
3'-trailer from precursor tRNA.
Homology: Mouse, rat.
Mutations
Germinal: 4 mutations associated with prostate cancer
susceptibility, altogether about 20 variants described.
Two truncating nonsense mutations mutations have
been found in HPC families. In addition, two common
missense variants, Ser217Leu and Ala541Thr, have
also been associated with familial prostate cancer
susceptibility.
been found in families fulfilling the HPC definition.
Familial prostate cancer is likely a mixture of cases
caused by dominant high-risk genes, risk-modulating
genes, environmental risk factors and ageing.
RNASEL
Location
1q25
Note
Ribonuclease L (2',5'-oligoisoadenylate synthetasedependent), encodes an antiviral, proapoptotic and
interferon-activated RNase.
DNA/RNA
Description: 6 coding exons spanning 13,337 bases of
genomic DNA, mRNA has a size of 4,166 kb.
Protein
Description: 741 amino acids, 83,533 Da.
Expression: Highly expressed in spleen and thymus
followed by prostate, testis, uterus, small intestine,
colon and peripheral blood leukocytes.
Localisation: Cytoplasm and mitochondrion.
Function: Endoribonuclease, mediator of interferon
action, which play a role in mediating resistance to
virus infection and apoptosis. Possibly play a central
role in the regulation of mRNA turnover.
Homology: Mouse, rat.
Mutations
Germinal: About 20 mutations/variants described.
Met1Ile, Glu265>Stop and Arg462Gln were the first
identified risk alleles for HPC. Arg462Gln has three
times reduced enzymatic activity. A founder
471delAAAG has been found in Ashkenazi Jews.
Glu265>Stop and Asp/Asp genotype of codon 541
have been associated with familial prostate cancer risk
in Finnish and Japanese populations, respectively.
These mutations are often associated with early age of
onset.
MSR1
Location
8p22
DNA/RNA
Note: Three isoforms. Isoform type 1 has a total length
of 67,904; processed length of 1,356 and protein
product length of 451. Isoform 2 has a total length of
53,475; processed length of 2,960 and mRNA product
length of 2,960. Isoform 3 has a total length of 67,904;
processed length of 1,167 and protein product length of
388. The isoforms type 1 and type 2 are functional
receptors and are able to mediate the endocytosis of
modified low density lipoproteins (LDLs). The isoform
type 3 does not internalize modified LDL (acetyl-LDL)
despite having the domain shown to mediate this
function in the types 1 and 2 isoforms. It has an altered
intracellular processing and is trapped within the
endoplasmic reticulum, making it unable to perform
endocytosis.
Description: 9 (8) coding exons spanning 84.914 bases
of genomic DNA, mRNA has a size of 1,167-3,761.
Protein
Note: Macrophage scavenger receptor types I and II.
Description: I 451 amino acids, 49,762 Da; II 358
amino acids, 39,584 Da
Expression: Widely expressed. Highly expressed in
heart, placenta, liver, skeletal muscle, kidney, pancreas,
testis and ovary. Weakly expressed in brain, lung,
spleen, thymus, prostate, small intestine, colon and
leukocytes.
Localisation: Membrane; Single-pass type II membrane
protein.
Function: Membrane glycoproteins implicated in the
pathologic deposition of cholesterol in arterial walls
during atherogenesis. Two types of receptor subunits
exist. These receptors mediate the endocytosis of a
diverse group of macromolecules, including modified
low density lipoproteins (LDL).
Homology: Mouse, rat.
Mutations
Germinal: Truncating mutations originally found in
African-American and European-American men.
Arg293X truncating mutation results in a dominant
negative mutant of the gene.
ELAC2
Location
17p11.2
DNA/RNA
Description: 24 coding exons spanning 25,658 bases of
genomic DNA, mRNA has a size of 3,026.
Protein
Note: Zinc phosphodiesterase ELAC protein 2.
Description: Protein product of 826 amino acids;
92,219 Da.
Expression: Highly expressed in heart, placenta, liver,
skeletal muscle, kidney, pancreas, testis and ovary.
Weakly expressed in brain, lung, spleen, thymus,
prostate, small intestine, colon and leukocytes.
Localisation: Nucleus.
Function: Zinc phosphodiesterase, which displays some
tRNA 3'-processing endonuclease activity.
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(6)
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To be noted
chromosome 1q42.2-43.
Jun;62(6):1416-24
Note
In addition to the three strong candidate susceptibility
genes (RNASEL, ELAC2 and MSR1), a number of
other loci have been identified in genome-wide genetic
linkage studies using HPC families. These include for
example 1p35-36 (CAPB), 1q42-43 (PCAP), 16q23,
17q22, 20q13 (HPC20) and Xq27-28 (HPCX).
However, many of the reported loci have been hard to
validate in other populations and therefore the results of
the linkage analyses have remained disparate. More
recently, using genome-wide SNP analyses, even more
susceptibility loci have been localized, including
repeatedly detected 3p, 8q24, 10q11, 11q13, 17q and
Xp11. In addition, association with familial prostate
cancer has been detected with mutations of CHEK2
(22q12.1), BRCA2 (13q12), CDKN1B (12p13.1-p12),
PON1 (7q21.3), SRD5A2 (2p23) and PALB2
(16p12.1) although the results are not fully consistent
in all populations and ethnic groups studied.
Schaid DJ, McDonnell SK, Blute ML, Thibodeau SN. Evidence
for autosomal dominant inheritance of prostate cancer. Am J
Hum Genet. 1998 Jun;62(6):1425-38
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