Category: Disease Risk

BRCA Testing for Breast Cancer Awareness Month

Breast Cancer

Goal of Breast Cancer Awareness Month – Get BRCA Tested if you have a Family History of Breast or Ovarian Cancer

 

Breast cancer is the most common cancer in women, affecting one in eight women in their lifetime for a background population risk of 12.5%. In the US, last year, the national Cancer Institute estimated 231,840 new cases of female breast cancer. The majority of breast cancers are sporadic meaning there is not an inherited component. However 5 to 10% are due to inherited causes.

Although BRCA1 and BRCA2 were the first genes identified to be associated with this inherited risk for cancer they are only responsible for about 50% of hereditary breast cancer. However, additional genes have been discovered that are associated with increased breast cancer and ovarian cancer risk and with these other genes there is often other cancers such as pancreatic cancer, thyroid cancer or sarcoma in the family.

Genetic Cancer Risk

Indications for breast cancer testing

  • Early-onset breast cancer
  • Having a male relative with breast cancer
  • Having a history of breast and ovarian cancer in the same individual or in closely related family members
  • Multiple members of a family with breast cancer
  • Multiple members of the family with breast, uterine or thyroid cancer

Benefits of testing

Early detection improves the odds of survival

 

cancer survival

 

 

 

 

In addition, identifying and inherited susceptibility for certain cancers can change both screening and management of your health

  • Earlier acceptance of screening tools such as mammograms, ultrasound and MRI
  • Indication for risk reducing measures such as ovary removal after childbearing is complete
  • Identify other at risk family members
  • Consideration for medications for primary risk reduction

Expanded BRCA Test Panel – Now Available for Breast Cancer Awareness Month

Test description – our advanced BRCA panel includes BRCA1, BRCA2, CDH1, PALB2, PTEN, TP53 and many other genes associated with the increase risk of breast and ovarian cancer. In fact the current panel consists of 30 genes and represents a comprehensive genetic analysis for hereditary cancers including breast, ovarian, colorectal, pancreatic and other cancers as well.
Testing is performed in a CLIA certified laboratory with strong performance standards showing 100% accuracy, 100% sensitivity, 100% specificity with both repeatability and reproducibility

This Expanded BRCA Panel can be ordered on our Facebook page

 

 

BRCA alone or Expanded Breast Cancer Gene Panel

Breast Cancer

A Multigene breast cancer panel had a higher diagnostic yield than BRCA 1/2 Testing alone

A patient with a strong family history of breast and ovarian cancer wanted to know if there was any advantage to doing the broader panel vs. just BRCA 1/2.  Her family history was notable for breast cancer in her mother at age 52 and an aunt with ovarian cancer at age 47.  The family history was also notable for a maternal uncle with colon cancer and her maternal grandfather had Non-Hodgkins Lymphoma.  Unfortunately, her insurance had a very high deductible and she was going to pay out of pocket.  The BRCA 1/2 test alone can be done for $1500 but the multi-gene panels are much more expensive depending on the laboratory and the additional tests involved.

To answer this question we refer to a recent article published in the Annals of Surgical Oncology form July 2015. In the olden days prior to new methodology of next generation sequencing the strategy would always be to test sequentially.  In this case, that would be doing BRCA 1/2 first and if negative then move to the other genes that are less penetrant but confer an increased risk for breast/ovarian cancer.

In this study, they took patients that had undergone only BRCA 1/2 testing and then did further multi-gene panel testing.  The detection of BRCA 1/2 mutations were the same as would be expected because next-generation sequencing should also identify BRCA mutations.  However, approximately 4% of women were found to have non-BRCA mutations that were considered pathogenic or contributing to disease.  Most improtantly, almost 14% of women were identified to have Variants of Unknown Significance (VUS) in non-BRCA genes.

VUS usually require more interpretation in light of the family history but in cases where there is a strong family cancer history, many of them can be interpreted to be significant and contributing to breast / ovarian cancer risk and other cancer risk in that family and individual.

So what is our Testing Strategy:

  • BRCA 1/2 alone if the family history is significant for only breast cancer and/or ovarian cancer
  • Multi-gene panel if there is additional family history of non-breast / ovarian cancer.

If you have questions about testing strategy please call us at 352-235-9636 or toll-free at 855-474-8522

or

Schedule a Video Consultation

My PSA is high but I don’t have symptoms. Do I need a biopsy for possible prostate cancer?

PSA, PHI, Prosate Cancer

The Prostate Health Index (PHI) test and when it can be useful to diagnose prostate cancer

 

 

Our patient today had a PSA of 7.4.  He is a 67 year old Caucasion male with no other medical issues other than episodic high blood pressure.  He does report some mild urinary symptoms mostly involving going to the bathroom frequently but his urine stream is normal and he has no incontinence or dribbling.

He has had PSA testing in the past.  At one point it was 7.1 but after he saw a holistic practitioner it decreased to 4.5.  Approximately 6 months later it was 7 again and his primary care doctor thought it was worth evaluating further.  He did not want a biopsy and so had a prostate ultrasound performed and an examination by a Urologist.  His prostate was smooth and the ultrasound was benign so it was considered appropriate to just watch him.

The new PSA was 7.4 which does represent an increase from previous.  In addition, his urinary symptoms has worsened but not drastically so.  He still had a normal stream but had increased frequency in compared to before.

For a better risk assessment, we performed a Total and Free PSA.  Many physicians are not familiar with the Free PSA.

In men over 50 with an elevated Total PSA, the %Free PSA gives an estimate of the probability of prostate cancer

Our patient had a Total PSA = 7.4 and a %Free PSA – 22%. In this case, the ideal %Free PSA should be over 25%.  The lower the %Free PSA the greater the greater the probability of cancer.  Here is a table that shows the Estimated Probability of prostate cancer.

PSA(ng/mL)      Free PSA(%)     Estimated(x) Probability
                                     of Cancer(as%)
0-2.5              (*)               Approx. 1
2.6-4.0(1)         0-27(2)                   24(3)
4.1-10(4)          0-10                      56
                   11-15                     28
                   16-20                     20
                   21-25                     16
                   >or =26                   8
>10(+)             N/A                      >50


Given that our patient's Total was in the 7 range and the high Free PSA, the probability of cancer is low but still significant at 16%



Here is a nice graph from Quest: showing our possible decision tree.

 

This patient had a normal rectal examination so the liklihood of cancer based on the testing is still low but significant.  The next options are to refer for a biopsy, which he did not want, wait to re-test in 3-6 months to see how the numbers may change or to see if we can’t further risk stratify.

If we want to further risk stratify then we can consider using the Prostate Health Index (PHI).

This patient, like many, fall into that category that often result in a biopsy but don’t have cancer.  See our image above.  Of course, one never knows and that is why the biopsy is performed because who want to be the statistic that ends up with prostate cancer.

To help with this decision, researchers looked for an alternative biomarker which led to the discovery of the PHI.  PHI offers greater specificity in identifying patients that truly need a biopsy.

Phi is the only FDA approved blood test that is 3 X more specific than PSA alone.

The phi combines the use of another biomarker called p2PSA which is an isoform of free PSA that is the most prostate cancer specific biomarker found.  When p2PSA is used with the total PSA, and free PSA, the diagnostic accuracy improves to 71%

Phi-table-large

If you are like our patient who falls into this gray zone area and are concerned about getting a biopsy. Please call us at 352-235-9636 or Toll Free at 855-474-8522

or Schedule an Online Diagnostic Consultation

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