Tag: gene testing

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

Breast Cancer in Men

Men

Men with Breast Cancer?

Say it isn’t so.  But yes it is.  Men can and do get breast cancer.  There were about 2500 cases of breast cancer in the US last year.

male breast cancer

What kind of symptoms do men with breast cancer get?

In men, breast cancer is usually a PAINLESS lump.  Usually it is hard and does not move and is in the area just around the nipple.  The lump can be deep and does not need to be on the surface of the skin.  Since men don’t usually check their breast or chest area, breast cancer is usually advanced in men by the time of diagnosis.  Most men have advanced stage III or IV disease by the time they get diagnosed.

As a man, am I at risk for Breast Cancer?

You may be at risk for breast cancer if there are other family members with breast cancer.  If you have two or more members of your family with breast or ovarian cancer or breast cancer at a young age, it would be advisable to first test the affected family members for the BRCA1 or BRCA2 genes before getting tested first.

 

 

High Risk Breast Cancer Checklist

Checklist for Needing BRCA Testing

As part of Breast Cancer Awareness Month, our goal is to disseminate information about high risk Breast Cancer.  The most important question that needs to be answered is

What is my risk for developing Breast Cancer?

The need for further genetic testing and strategies for prevention start with answering this question.  It is a fairly difficult question to answer.  Most women are inaccurate in determining their risk for breast cancer.  We use a comprehensive statistical evaluation tool that looks at all risk factors for breast cancer to determine if an individual falls into the high risk category or not.  For a more detailed look at breast cancer risk factors see out other post. Breast Cancer Risk Factors

Breast Cancer
BRCA Testing Saves Lives

Table of Breast Cancer Risk Factors: http://geneticmedicineclinic.com/dev/breast-cancer-risk-factors/

Indications for Breast Cancer Genetic Testing

If you have numerous factors that place you in the high risk category or if you answer yes to any of the questions in our checklist below:

  • Do you have bilateral breast cancer?
  • Do you have breast cancer < age 45?
  • Are there two members of your family with breast and/or ovarian cancer?
  • Do you have ovarian cancer?
  • Are you of Ashkenazi Jewish ethnicity?

What tests diagnose high risk Breast Cancer?

Here is a nice video from Ambry Genetics, one of our testing partners on BRCA1 and BRCA2

A Typical Genetics Consultation

genetics consultation

What to Expect with a Genetics Consultation

The goal of a Genetic Consultation can be for Diagnostic, Disease Management and Optimization or Counseling purposes.  As we learn more about the role of genes and their contribution to birth defects, diseases, disease risks, and medication metabolism (pharmacogenetics), we can use this information to provide Personal Medicine and Precision Medicine.

Before the Genetics Consultation or Genetics Visit

A Genetics Consultation is more involved than a typical medical office visit.  To assess the role of Genetics in the disease process, we need a lot of information in order to make the most of your visit.  Typically, visits may last from 60-90 minutes.

Before the appointment:

  • Write down your main questions and what you would like answered
  • In advance, please have your medical records sent to us so they can be reviewed prior to your visit
  • Please ask your family members and get as much family health history as possible
  • Please bring all of your medications or a list of them with dosages

What to Expect during your Visit

  • A review of your Medical History
  • A review of your pregnancy and childhood history
  • A review of your developmental history
  • A review of your family history
  • A Physical Examination
  • A review of your Laboratory testing, x-ray studies and any other testing you may have performed

Genetic Counseling

Depending on your condition and the reason for your visit, anticipate that we may begin the education process to help you understand the:

  • Role of genes and heredity in contributing to the disease process
  • Risk of disease manifestation and disease recurrence and risk of transmission to other family members
  • Different testing options and the advantages and disadvantages of each
  • Prognosis and options for management

For more information about our Genetics Consultation services, please contact us at 855-474-8522

To refer a patient for Genetics Evaluation Services, please fax a Referral Request to 877-465-6936

Genetic Medicine Clinic | TeleGenetics |Personalized Medicine | 352-235-9636

Testosterone in XYY Syndrome

Testosterone in XYY

How and When to Supplement with Testosterone in XYY Syndrome

We recently had a patient with XYY Syndrome.  XYY syndrome is a rare chromosomal abnormality that affects males.  There are many misconceptions about this disorder.  Our patient recently went to see his Primary Care Doctor who decided NOT to treat with Testosterone because the patients total testosterone was low normal.  No further testing was performed.

One of my medical school professors once told me: “You treat the patient, NOT the numbers,” and this patient is a great example.  Despite his low-normal levels of testosterone, upon talking to him further, he reported that he had a number of symptoms.  He had difficulty focusing and had some impulsivity (both seen in patients with XYY syndrome). Getting some childhood history, he was very tall but had delayed onset of puberty.  He had gynecomastia (breast development despite significant weight training) and small testes.  He reported issues with libido and problems with both erection and ejaculation.

For this patient, it is important not to “chase the numbers” but to provide treatment titrated to his symptoms. The goal is a level of free and bioavailable testosterone at the mid to mid-high levels of normal measured at a trough level (right before an injection).  There is no medical evidence to support this but the goal is to achieve a level that would be physiological and that would result in a physiological response in men (that don’t have XYY  or a chromosomal abnormality). The goal is to maintain testosterone levels at this mid level so depot forms of testosterone given every other week intramuscular is a good starting point but most patients require more frequent dosing.  I often suggest 200 mg every 10 days or every 7 days.  Most of the intramuscular preparations of testosterone are oil based so there is little difference between them in terms of efficacy.  Often, testosterone injections can be supplemented with topical testosterone gel, cream or foam.  This prevents severe troughs and a higher baseline level.  Also subcutaneous testosterone can be considered and there is much medical data that subcutaneous injection of the same dose but divided over a few days can result in better long-term maintenance.

Author: Dr. Maulik Shah

Genetic Medicine Clinic | TeleGenetics |Personalized Medicine | 352-235-9636

 

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