Genetic Testing for Hereditary Breast Cancer

BRCA Testing at Pune Breast Care

At Pune Breast Care, we offer Genetic Testing for BRCA and other genes responsible for inherited risk of breast cancer. Genetic Testing has now become affordable and accessible to most women and families who can benefit from it. These include

Breast Cancer Patients

Breast cancers diagnosed in patients who are BRCA positive are treated differently from others.

Patients already treated for breast cancer, may still benefit from such testing and take measures to reduce their risk of new breast cancers and ovarian cancer 

Strong Family History

A strong family history of cancer of cancers causes  significant anxiety about breast cancer. Genetic testing can help quantify this risk. 

If there is a known familial mutation, a negative test can be reassuring. A positive test can help patients take appropriate steps towards prevention and early detection.

Asymptomatic Carriers

Close blood relatives of patients who have a known harmful  BRCA or other mutation, are advised to screen for the  gene known to run in the family.

A carrier of the mutation can be offered options of increased surveillance vs prophylactic surgery or chemo-prevention to minimise their chances of getting cancer

 Hereditary Breast Cancer

About 5-10 percent of all breast cancers are said to be hereditary and caused by known inherited mutations in specific genes. 80-90% of these are caused by mutations in BRCA1 or BRCA2 gene. TP53, PTEN,CDH1, ATM, CHEK2 and PALB2 are other genes responsible for hereditary cancers. 

     Suspicion of Genetic causes

The possibility of a genetic mutation is suspected in scenarios such as

  • Young Breast cancer: Breast Cancer is diagnosed at or before age 50 years

  • Bilateral Breast Cancer: Breast Cancer is present in Both Breasts

  • Ovarian cancer: of epithelial origin.

  • Multiple  breast cancers: either developing at one time or sequentially

  • Male breast cancer: At any age

  • Triple-negative breast cancer:  in women diagnosed at age < 60 years.

  • Breast cancer in a patient who has a close relative having breast, ovarian, pancreatic, or high grade prostate cancer.

  • A previously identified BRCA1 or BRCA2 gene mutation in the family

  • Breast cancer in ethnicities where the mutation is common (e.g.Ashkenazi Jewish ancestry)

The Genetic Testing Process

We follow a 3-step process for genetic testing

A)Pre-test Genetic Counselling:  Here we assess your need for testing. We ask you about your history, the composition of your family tree and known cancers in the family. We may verify some pathology reports and do a physical exam. We explain to you the benefits of testing and any possible downside. We discuss options available in the scenarios of obtaining a  positive, negative or inconclusive result. We outline how to best proceed with testing.

B)Genetic Testing: A simple blood draw provides a good sample for the test.We usually collect 3 ml of blood for the test. A saliva sample can also be used. No biopsy or other procedure needs to be done. The sample is sent to a genetics lab. A genetic test report is generated, which describes any gene mutations which may be found. The entire process can take 4-6 weeks.

C) Post Test Counselling: During this session we help you understand and interpret your test reports. We also guide you on how to use this   information  to make positive health decisions. We also guide you on how to disclose your reports to close blood relatives for their benefit when needed.

Have Questions About Genetic Testing?

Management BRCA positive patients

Management of a BRCA positive patient, i.e. a patient with a suspected harmful genetic mutation involves shared decision making between the breast surgeon and the patient. This decision may be influenced by the patients age, details of her family history, whether the patient has completed her family, whether she has already been diagnosed with cancer or other high-risk pathology. The options of management include

 

Risk Reducing Surgery 

As BRCA gene increase a woman’s risk of ovarian and fallopian tube cancer. This risk is dramatically reduced by surgical removal of the tubes and ovaries. This procedure is usually advised after a woman has completed her family. This procedure also reduces her risk of future breast cancer. The most effective way to reduce the high risk of breast cancer however is removal of the breast gland with a bilateral mastectomy. Bilateral prophylactic mastectomy when performed using nipple-skin sparing technique and immediate reconstruction can be done with excellent cosmetic results 

 

Increased Surveillance

Women who are not yet ready for surgery, can choose to undergo more frequent breast cancer screening. We usually advise 6 monthly visits and typically alternate digital mammography with breast MRI for 6 monthly evaluations. For ovarian cancer screening, a yearly transvaginal /pelvic ultrasound and a blood test for CA-125 levels are typically used. Aggressive surveillance does not decrease risk, but allows early detection of potential cancers that are likely to develop.

 

Chemo-prevention

Some patients may be prescribed chemoprevention such as tamoxifen. These medications can potentially lower risk but  do not prevent all cancers in these patients. As they have certain side effects, they should only be used under guidance from your breast surgeon or oncologist.

Need Advice on Your  Family History & Genetic Testing?

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Copyright 2020. All rights reserved by Dr. Pranjali Gadgil

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