The Role Of Genetic Counseling Risk Assessment And Testing Guidelines
BRCA1BRCA2
Although these guidelines share similarities, there is still a clear need to establish uniform guidelines for risk assessment. It was recently reported that expanding testing to patients with a second cancer diagnosis may identify germline cancer alterations in > 10% of individuals however, restricting testing to the above guidelines may miss the majority of these patients.
Figure 1
Analysis of the Surveillance, Epidemiology, and End Results -17 registries according to age distribution of prostate cancer from 1988 to 2012 demonstrates a median age at onset of 66.4 years . The 10th percentile for the age of onset is 55 years.
Figure 2
What Are Brca1 And Brca2
BRCA1 and BRCA2 are genes that produce proteins that help repair damaged DNA. Everyone has two copies of each of these genesone copy inherited from each parent. BRCA1 and BRCA2 are sometimes called tumor suppressor genes because when they have certain changes, called harmful variants , cancer can develop.
People who inherit harmful variants in one of these genes have increased risks of several cancersmost notably breast and ovarian cancer, but also several additional types of cancer. People who have inherited a harmful variant in BRCA1 and BRCA2 also tend to develop cancer at younger ages than people who do not have such a variant.
A harmful variant in BRCA1 or BRCA2 can be inherited from either parent. Each child of a parent who carries any mutation in one of these genes has a 50% chance of inheriting the mutation. Inherited mutationsalso called germline mutations or variantsare present from birth in all cells in the body.
Even if someone has inherited a harmful variant in BRCA1 or BRCA2 from one parent, they would have inherited a normal copy of that gene from the other parent . But the normal copy can be lost or change in some cells in the body during that persons lifetime. Such a change is called a somatic alteration. Cells that dont have any functioning BRCA1 or BRCA2 proteins can grow out of control and become cancer.
Prognosis And Survival For Prostate Cancer
If you have prostate cancer, you may have questions about your prognosis. A prognosis is the doctor’s best estimate of how cancer will affect someone and how it will respond to treatment. Prognosis and survival depend on many factors. Only a doctor familiar with your medical history, the type and stage and other features of the cancer, the treatments chosen and the response to treatment can put all of this information together with survival statistics to arrive at a prognosis.
A prognostic factor is an aspect of the cancer or a characteristic of the person that the doctor will consider when making a prognosis. A predictive factor influences how a cancer will respond to a certain treatment. Prognostic and predictive factors are often discussed together. They both play a part in deciding on a treatment plan and a prognosis.
The following are prognostic and predictive factors for prostate cancer.
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Inherited Variants Associated With Prostate Cancer Aggressiveness
Prostate cancer is biologically and clinically heterogeneous. Many tumors are indolent and are successfully managed with observation alone. Other tumors are quite aggressive and prove deadly. Several variables are used to determine prostate cancer aggressiveness at the time of diagnosis, such as Gleason score and PSA, but these are imperfect. Additional markers are needed because sound treatment decisions depend on accurate prognostic information. Germline genetic variants are attractive markers because they are present, easily detectable, and static throughout life.
Findings to date regarding inherited risk of aggressive disease are considered preliminary. As described below, germline SNVs associated with prostate cancer aggressiveness are derived primarily from three methods of analysis: 1) annotation of common variants within candidate risk genes 2) assessment of known overall prostate cancer risk SNVs for aggressiveness and 3) GWAS for prostate cancer aggressiveness. Further work is needed to validate findings and assess these associations prospectively.
Like studies of the genetics of overall prostate cancer risk, initial studies of inherited risk of aggressive prostate cancer focused on polymorphisms in candidate genes. Next, as GWAS revealed prostate cancer risk SNVs, several research teams sought to determine whether certain overall risk SNVs were also associated with aggressiveness.
References
What Other Cancers Are Linked To Harmful Variants In Brca1 And Brca2
Harmful variants in BRCA1 and BRCA2 increase the risk of several additional cancers. In women, these include fallopian tube cancer and primary peritoneal cancer , both of which start in the same cells as the most common type of ovarian cancer. Men with BRCA2 variants, and to a lesser extent BRCA1 variants, are also at increased risk of breast cancer and prostate cancer . Both men and women with harmful BRCA1 or BRCA2 variants are at increased risk of pancreatic cancer, although the risk increase is low .
In addition, certain variants in BRCA1 and BRCA2 can cause subtypes of Fanconi anemia, a rare syndrome that is associated with childhood solid tumors and development of acute myeloid leukemia . The mutations that cause these Fanconi anemia subtypes have a milder effect on protein function than the mutations that cause breast and ovarian cancer. Children who inherit one of these variants from each parent will develop Fanconi anemia.
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Could You Have A Faulty Gene
Red flags that you may have inherited a gene that raises prostate cancer risk include:
- Multiple family members diagnosed with prostate cancer, especially before age 55.
- A family history of prostate cancer coupled with breast, ovarian, colon, or pancreatic cancer.
A simple blood test can help determine if you carry a worrisome gene. So be sure to share your familys cancer history with your doctor, Obeid advised. If appropriate, your doctor can refer you to a genetic counselor to help you decide if testing is right for you and to help you understand the results.
If genetic testing does reveal that you have an inherited risk of prostate cancer, early screening with a digital rectal exam and PSA blood tests could help doctors find any prostate cancer that develops and, if cancer is ever suspected, your doctor may recommend that a biopsy be performed. For men with an increased genetic risk for prostate cancer, biopsies may be recommended at a lower PSA level than usually is for those with no inherited risk.
Your family members might also want to consider genetic testing because they may have inherited the same abnormal gene.
Two Reasons Women Should Test For The Prostate Cancer Gene
While its true that women cant develop prostate cancer, they can still carry the gene. And learning whether you have the gene matters.
Dr. Caroline Peterson, OB-GYN and Director of Cancer Screening and Prevention for Kettering Health, says it matters for two reasons:
A woman can pass a gene for prostate cancer to a son and not realize it, says Dr. Peterson. You can carry a gene and pass a gene for a cancer that you may not get, but you can still pass it to children.
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Mutations In Tp53 Gene Linked To Aggressive Prostate Cancer
Findings suggest men undergoing cancer-risk genetic testing should be checked for mutations in this gene as well
University of Washington School of Medicine/UW Medicine
Men who have mutations in a gene called TP53 have a high risk of developing aggressive prostate cancer, a multicenter research team in the United States has found.
The findings were reported in the journal European Urology. Researchers from more than a dozen institutions across the United States collaborated on the study. Dr. Kara N. Maxwell, assistant professor of medicine at the Perelman School of Medicine at the University of Pennsylvania is the papers lead author.
The TP53 gene instructs cells to make tumor protein 53. This protein detects damaged DNA and determines if the DNA can be fixed. If it can, the protein initiates DNA repair. If it cannot, the protein triggers a process that causes the cell to self-destruct, thereby preventing it from replicating with damaged and potentially cancer-causing DNA.
TP53 is a tumor suppressor gene that, by detecting DNA damage, serves as the Guardian of the Genome.’ But mutations in TP53 commonly develop in cancers, and when its protection is lost the cancers can go wild, said Dr. Colin Pritchard, professor of laboratory medicine and pathology at the University of Washington School of Medicine. He is also a researcher at the Brotman Baty Institute for Precision Medicine in Seattle. Pritchard was the corresponding author for the study.
Who Should Think About Getting Tested
To find out if you have a genetic mutation linked to prostate cancer, you can take a simple blood or saliva test. If your urologist suggests genetic testing, they may send you to a genetic counselor. They may also order the test and then send you to a genetic counselor if the results are positive or uncertain.
There are two groups of men who may want to think about being tested for prostate cancer genes, Dr. Morgan said.
The first group are men with localized prostate cancer who have a family history of breast, colon, ovarian, pancreatic or prostate cancer.
Doctors may decide whether to suggest genetic testing based in part on his Gleason score-a grading system that describes how aggressive the cancer is.
The National Comprehensive Cancer Network, a not-for-profit group representing many leading cancer centers, suggests a man should think about genetic testing if he has a Gleason score of seven or higher and at least one of the following:
- At least one close blood relative with breast or ovarian cancer at age 50 or younger, or
- A least two family members with breast, ovarian or prostate cancers at any age.
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Hereditary Prostate Cancer: What Every Man Should Know
On a typical day, an average of nearly 480 men in the U.S. are newly diagnosed with prostate cancer.
Most men facing this cancer dont have a family history of the disease. Still, a family history does raise the risk of prostate cancer. For example, having a father or brother with prostate cancer more than doubles a mans chance of developing it too. That risk escalates for men with several affected relatives, especially if they were young when cancer struck.
Prostate Cancer Screening Programme May Be Up And Running Within Five Years
Around 50,000 men in the UK are told they have the disease each year and one in eight will be diagnosed in their lifetime
Effective prostate cancer screening could be ready in five years, a leading scientist has said, thanks to advances in genetics.
There is currently no national screening programme for the disease, but Ros Eeles from the Institute of Cancer Research has said she hopes that will change.
“With the advances in genetics and also imaging, particularly MRI, realistically we do need some more data, but we’re probably looking at getting close to a tailored screening programme in the next three to five years,” the professor of oncogenetics said.
“We might need to use all of them together… so we can find those who have significant disease,” she said on BBC Radio 4’s Today programme.
Around 50,000 men in the UK are told they have the disease each year and one in eight will be diagnosed in their lifetime.
Screening methods currently available can detect risk, but they are imperfect.
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Who Should Have Genetic Testing
If your family has a strong history of prostate cancer, you are at a higher risk of prostate cancer yourself. Your risk for familial prostate cancer is higher if you have:
- A first- or second-degree relative with metastatic prostate cancer, ovarian cancer, male breast cancer, female breast cancer diagnosed at 45 years of age or younger, colorectal or endometrial cancer diagnosed at 50 years of age or younger, or pancreatic cancer.
- Two or more first- or second-degree relatives with breast, prostate, colorectal or endometrial cancer at any age.
In a family with a history of prostate cancer, the first step may be to test a family member who has had prostate cancer. If that person is found to have a harmful genetic mutation, then other family members can be tested to see if they also have the same mutation. This information can be used to guide screening for prostate cancer.
If you are worried you or your family may have a genetic mutation or syndrome listed above, you should meet with a genetic counselor. A genetic counselor will discuss what having genetic testing can mean for you and your family. The genetic counselor will go over the risks and benefits of testing and how results will affect cancer screening and prevention recommendations for you.
Resources for More Information
Criteria For Genetic Testing In Prostate Cancer
The criteria for consideration of genetic testing for prostate cancer susceptibility varies depending on the emerging guidelines and expert opinion consensus as summarized in Table 2. Identification of men for inherited prostate cancer genetic testing is based upon family history criteria, personal/disease characteristics, and tumor sequencing results. Actual genes to test vary on the basis of specific guidelines or consensus conference recommendations. The National Comprehensive Cancer Network Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Cancer guideline is focused on BRCA1/BRCA2 testing on the basis of various testing criteria. The NCCN Prostate Cancer treatment guideline states to test BRCA1/BRCA2, ATM, CHEK2, PALB2, MLH1, MSH2, MSH6, and PMS2 for men meeting specific testing indications. A 2017 consensus conference addressed the role of genetic testing for inherited prostate cancer. Family historybased indications for testing included testing for BRCA1/BRCA2, HOXB13, or DNA mismatch repair genes. Tumor sequencing with potential findings of germline variants in BRCA1/BRCA2 or DNA MMR genes, as well as other genes, is recommended for confirmatory germline testing. Somatic findings for which germline testing is considered include:
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How Do Genes Cause Cancer
Cancer is a health condition where your body cells grow in an abnormal way.
Your body cells contain genes small sections of DNA. Genes control how your cells function and behave. Sometimes, your genes can change . These gene changes can make your cells grow and behave abnormally, leading to cancer.
Gene Mutations Linked To Prostate Cancer
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Men with TP53 gene mutations are at an increased risk of developing aggressive prostate cancer, a multicenter research team in the United States has found. The findings were reported in the journal European Urology. Researchers from more than a dozen institutions across the United States collaborated on the study. Dr. Kara N. Maxwell, assistant professor of medicine at the Perelman School of Medicine at the University of Pennsylvania, is the paper’s lead author.
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Does Prostate Cancer Run In Families
Yes. Prostate cancer can run in your family. This is called familial prostate cancer. It means that multiple people in your extended family have prostate cancer, but its not caused by specific inherited genes.
If you have family members with prostate cancer, your own risk goes up. Having a first-degree relative with prostate cancer makes you 2 to 3 times more likely to get it yourself. And your risk goes up even higher if you have multiple relatives with prostate cancer especially if they were young when diagnosed.
Candidate Gene Analysis Evidence
Subsequent to these reports, germline mutations have been found in the NBS gene in the Slavic population at a higher frequency in prostate cancer cases than controls and in the CHEK2 gene . This raises the possibility that prostate cancer predisposition may in some cases be due to mutations in genes in the DNA repair pathway that in the homozygous form give rise to a severe phenotype , but in the heterozygous form, would give a risk of prostate cancer.
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What Percentage Of Prostate Cancers Are Hereditary
Only a very small percentage of all cancers are hereditary.
Even though prostate cancer is among the most commonly diagnosed cancers in men analogous to breast cancer being the most common in women only 10 percent of men with aggressive forms of prostate cancer may have a hereditary component. That is, they may have inherited the predisposition to develop prostate cancer by inheriting a gene mutation, which can also overlap to cause a predisposition for breast cancer.
Since the genetic connection between breast and prostate cancers became evident in recent years, genetic counselors now look at the cancer risk for both male and female family members of men with hereditary prostate cancer. She says, when I see women with hereditary breast cancers, I always look around for its ripple effect. There could be other women or men in her family who could benefit from genetic testing.
How Do Brca1 And 2 Mutations Affect My Risk Of Getting Prostate Cancer
BRCA1 and BRCA2 are types of genes called tumor suppressor genes. These genes normally help your body repair mistakes in your DNA and tell your cells when to grow and die.
If you have a mutation in these genes, it can make it easier for cancer cells to grow in your body.
Inherited BRCA1 and BRCA2 mutations are especially well known for causing breast and ovarian cancer in women. But they can also cause prostate cancer especially if you have the BRCA2 mutation. A person with a BRCA2 mutation is 3 to 4 times more likely to get prostate cancer, particularly more aggressive forms. If you have this mutation, screening and early detection are especially important.
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