Genetic Testing Is Helpful In Detecting Hereditary Breast Cancer
Wed, April 21, 2021

Genetic Testing Is Helpful In Detecting Hereditary Breast Cancer


Some women inherit mutations in certain genes that increase their likelihood of developing breast cancer, explained, an online resource on cancers. Two years ago, Lisa DeAngelico found out she had Stage 4 breast cancer at 47 years, narrated Sarah Elizabeth Richards of The Washington Post, an American daily newspaper. 

Her doctor asked if she wanted to undergo DNA testing to understand her family genetics, she agreed to provide a blood sample and meet with a genetic counselor. DeAngelico, a hospital administrative coordinator in East Boston, said, “I hoped that if it did tell me I had a gene, I could tell others in my family that they should get tested early. The test revealed that she also had a mutation in the BRCA2 gene, as well as a risk for developing ovarian cancer.


Breast Cancer Awareness and Attitudes and Breast Examination Among Female Jordanian Students (2014)

Amal K. Suleiman distributed a self-administered survey via a pre-validated pre-piloted questionnaire to 900 female students aged between 18 and 37, who were recruited from the University of Jordan in Amman. Suleiman found that 51.8% were aware of breast cancer while 48.2% were not aware.

Of those who were aware of breast cancer, 22.7% said it was caused by a medical condition, followed by a lack of breastfeeding (13.3%), heredity (12.3%), old age (16.3%), late marriage (10.3%), late pregnancy (7.5%), brassier use (4.1%), excessive breastfeeding (3.9%), and spirituality (2.6%).

Of respondents who were aware of breast cancer, 45.5% would undergo screening or perform BSE (breast self-examination) if it would benefit them, 25.5% said if their family agreed, and 19.3% said if there was a known cure for breast cancer.



BRCA Mutations More Prevalent In Older Women Diagnosed with Breast Cancer (2020)

Allison W. Kurian, MD, MSc, and colleagues looked at information from 4,517 women who were part of the Women’s Health Initiative (WHI) trial that has information from over 161,608 postmenopausal women aged 50 to 70 when they joined the trail between 1993 and 1998, quoted Jamie DePolo of Breast, an information website on breast cancer.

Of the women included in the present study, 2,195 were diagnosed with breast cancer during the WHI and 2,322 had not been diagnosed with breast cancer as of September 20, 2017. Of those who were diagnosed with breast cancer, half were older than 73 when they were diagnosed and half of the women were diagnosed when they were younger.

Of those who were not diagnosed, half were older than 81 at the last follow-up visit and half were younger. The researchers conducted genetic testing on all women using a Myriad Genetics test that looked for mutations in 28 genes, including BRCA1, BRCA2, ATM, BARD1, CDH1, CHEK2, NBN, PALB2, STK11, and TP53. All these were correlated with a higher risk of breast cancer.

Harmful mutations were found in 148 women who had been diagnosed with breast cancer and 93 women who had not been diagnosed, totaling to 241. A harmful mutation was found in a gene associated with breast cancer in 3.55% of women who had been diagnosed and 1.29% of women who had been diagnosed.



When specifically looking at harmful mutations in the BRCA1 or BRCA2 genes, they found that 2.21% of women diagnosed with breast cancer when they were younger than 65 had a BRCA1 or BRCA2 mutation compared to 1.09% of women diagnosed with breast cancer when they were age 65 or older.

Of women who had a harmful mutation in the BRCA 1 or BRCA 2 genes, 30.8% of women diagnosed with breast cancer met NCCN genetic testing guidelines while only 20% of women not diagnosed with breast cancer met the guidelines.

Of those who had a harmful mutation in another breast cancer-associated gene, 34% of women diagnosed with breast cancer met NCCN genetic testing guidelines versus while only 16% who had not been diagnosed met the guidelines.


The Critical Role of Genetics

More doctors are recommending breast cancer patients to have their DNA sequenced through a blood test. The test will then reveal mutations that can be passed from parent to child. Allison Kurian, an oncologist at Stanford Cancer Center said, “There are new drugs for people with these inherited mutations that could help them control their cancer.”

Kurain referred to two targeted therapies knowns as PARP inhibitors for patients with metastatic breast cancer who have a mutation in either the BRCA 1 or BRCA2 genes. It’s not clear how these drugs can keep one’s cancer at bay. Some of them lived several months longer while others still respond to the drugs years later.

She said, “But if we don’t test them, we won’t find out if they could benefit.” said most doctors agree that not all women with breast cancer need to undergo genetic testing and counseling.

However, genetic testing is helpful when a woman is diagnosed with breast cancer at a younger age or diagnosed with breast cancer a second time. The latter should not be a recurrence of the first cancer.

A woman can consider testing if she is of Ashkenazi Jewish descent or she has a family history of breast cancer, ovarian cancer, pancreatic cancer, or prostate cancer. If a person has a known family history of a BRCA mutation, they can also undergo genetic testing.



The Emotional Turmoil People Feel Upon Finding Out the Truth About Their Genes

Doctors struggle to work out the details on who should be tested and when. Kevin Hughes, surgical director of breast screening at Massachusetts General Hospital and professor of surgery at Harvard Medical School in Boston, said genetic testing should not be any different than a mammogram. He argued that testing helps more women survive and prevents them from going through chemotherapy.

Meanwhile, genetic counselors try to help patients cope with their emotions after finding out there is something in their DNA that increases their risk of breast cancer (or other cancers).  There are cases of “variants of unknown significance,” but most of them are benign, said Lisa Madlensky, director of the family cancer genetics program at the University of California at San Diego. A friend recommended Kristal Baffa to get genetic testing after she was diagnosed with Stage 3 breast cancer.

Baffa did not have a BRCA mutation but the result was overshadowed by a genetic variant of unknown significance. She said, “With this kind of variant, there’s no action to take. You just wait around for science to tell us more.”

It will take time before researchers can understand a person’s genetic code in creating disease. However, counselors agree that genetic testing can help warn family members that they may be at risk of breast cancer. Gillian Hooker, president of the National Society of Genetic Counselors, lamented, “There’s a perception of guilt. You don’t get to decide what genes you pass on, but it’s still an emotion that comes up.”

There should be increased awareness of breast cancer among women and men. This includes misconceptions, risk factors, and early intervention treatment plans. Genetic testing should also be encouraged to help family members be more aware of their risk of having breast cancer.



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