Tag: Breast Cancer Risk

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

Genetic Testing for BRCA

BRCA Testing
Breast Cancer Counseling

Genetic Testing for the BRCA genes in Hereditary Breast and Ovarian Cancer

is an important method for identifying patients who are at high risk.  The difficulty has always been identifying those at high risk.

Testing only Women with a family history of breast or ovarian cancer will identify only half the women with mutations

There becomes two issues: 1: Identifying Women at High Risk for Breast and Ovarian Cancer and 2:The established criteria where insurance will pay for testing.

The National Comprehensive Cancer Network (NCCN) criteria for patients who should have BRCA1 and BRCA2 testing are:

Family History of Breast Cancer
  • Relative with a previously identified BRCA1 or BRCA2 mutation
  • 1st/2nd-degree blood relative who meets any criteria in below sections
  • 3rd-degree relative with breasta and/or ovarianb cancer and ≥2 close blood relativesc with breast and/or ovarianb cancer
Personal History of Breast Cancera
Age at Diagnosis Additional Criteria (only 1 of the following is necessary)
≤45 y
  • No additional criteria necessary
≤50 y
  • ≥2 primary breast tumorsd
  • ≥1 close blood relativec with breast cancer
  • Limited family history
≤60 y
  • Breast cancer that is negative for ER, PR, and HER2 (triple negative)
Any age
  • Patient is male
  • ≥1 close blood relativec with breast cancer diagnosed by age 50 or with epithelial ovarian cancer diagnosed at any age
  • ≥2 close blood relativesc with breast cancer
  • ≥2 close blood relativesc with prostate cancer (Gleason score ≥7) or pancreatic cancer
  • ≥1 close male blood relativec with breast cancer
  • Ethnicity (eg, Ashkenazi Jewish) associated with higher mutation frequency
Personal History of Other (Nonbreast) Cancers
  • Epithelial ovarian cancerb
  • Pancreatic or prostate cancer with ≥2e close blood relativesc diagnosed with breast, ovarian,b pancreatic, or prostate cancer (Gleason score ≥7)

Breast Cancer Risk Factors

Breast Cancer

Breast Cancer Risk Factors

We published a paper almost a decade ago in the Journal of Women’s Health which showed that most women were very INACCURATE in determining their breast cancer risk.  This conclusion was surprising because there is a wealth of information about breast cancer available on the internet, through health and medical websites and from health-care practitioners who are much more educated about Breast Cancer then they were in the past.

Why are Women mistaken about their Breast Cancer Risk?

From our study, it turns out that most women were somewhat familiar with Breast Cancer risk factors but were unable to understand how these risk factors should be weighted to determine a cumulative or combined risk.  For example, despite as strong family history of Breast Cancer (which increases breast cancer risk substantially), daily exercise was given as a reason for a woman believing her risk was minimal.  What she did not understand is that although daily exercise can reduce risk, it does not offset the tremendous increase in risk due to genetics and heredity.

 

 

List of Breast Cancer Risk Factors

Risk Factor Decreased Risk Slight Increased Risk Significant Increased Risk
First Degree Relative (Mother, Sister) with breast cacner  

↑↑

Mostly Jewish Ancestry    
Height > 5’7”    
Weight gain of 20-40 lbs since starting period    
Weight gain >40lbs since starting period     ↑↑↑
Birth Weight > 8.5 lbs    
Periods starting at age 15 or greater    
Given birth to two or more children    
First child born after the age of 35      
Diagnosis of benign breast disease  
Menopause starting greater than age > 55    
Oral Contraceptive Use    
Use of Estrogen for > 5 years    
Use of Estrogen/Progesterone < 5 years    
Use of Estrogen/Progesterone >5 years     ↑↑↑
Alcohol use > 1 drink/day    
Daily Exercise > 30 min    

Tamoxifen use > 5 years

   

For a Comprehensive Breast Cancer Risk Assessment, CONTACT US Map: https://goo.gl/maps/WYIkW Telemedicine or Video Consultation @ CLICK HERE

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