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Can Breast Cancer Be Hereditary

Questions To Ask The Health Care Team

Hereditary Breast Cancer Genetics in 2019 – Brittany Bychkovsky, MD, MSc

If you are concerned about your risk of cancer, talk with your health care team. It can be helpful to bring someone along to your appointments to take notes. Consider asking your health care team the following questions:

  • What is my risk of developing breast cancer and ovarian cancer?

  • What is my risk for other types of cancer?

  • What can I do to reduce my risk of cancer?

  • What are my options for cancer screening?

If you are concerned about your family history and think your family may have HBOC, consider asking the following questions:

  • Does my family history increase my risk of breast cancer, ovarian cancer, or other types of cancer?

  • Should I meet with a genetic counselor?

  • Should I consider genetic testing?

What Causes Triple Negative Breast Cancer

Many patients wonder what causes triple negative breast cancer. The breast cancer experts at Moffitt Cancer Center are often asked this question, but as of yet, there are no clear answers. As research continues, more is being learned about the causes of breast cancer in general, and triple negative breast cancer specifically.

Triple negative breast cancer differs from other types of breast cancer in that the cancer cells do not have receptors for estrogen, progesterone or HER-2/neu hormones. When these receptors are present and exposed to the corresponding hormones, they can stimulate the cancer to grow. But, this also means that triple negative breast cancer patients do not benefit from hormone-based treatments, such as tamoxifen and Herceptin, which are sometimes effective for treating hormone-receptor-positive cancers.

The current theories on what causes triple negative breast cancer and hormone-receptor-positive cancers also differ. For instance, some breast cancers that grow in response to hormone exposure have been linked to a womans childbearing characteristics, such as the age at which she gave birth for the first time. Triple negative breast cancer does not seem to share this link.

Some researchers believe that one possible cause of triple negative breast cancer is a faulty BRCA1 gene. Here are some of the factors that support this theory:


Worried About Your Breast Cancer Risk

Does breast cancer seem to run in your family? Have you had abnormal mammograms before? Roswell Parks High Risk Breast Cancer Program can help. Our team of specialists will assess your personal risk for breast cancer, based on your familys cancer history, your personal medical history, possible genetic mutations and more, and then provide you with a path forward for ongoing exams, surveillance, and preventive options.

Dont live in fear of your breast cancer risk. Let us help you learn your personal breast cancer risk and what you can do about it and leave the worry behind.

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The Current Genetic Landscape Of Triple

Shuwei Li, Hsiao-Mei Lu, Mary Helen Black

Ambry Genetics

Received: 13 October 2018 Accepted: 29 October 2018 Published: 30 October 2018.

doi: 10.21037/jlpm.2018.10.04

Since the discovery of the BRCA1 and BRCA2 genes, multiple predisposition genes have been identified and included on genetic testing panels for breast cancer . In fact, breast cancer is now recognized as a heterogeneous disease with a complex genetic architecture . However, the full spectrum of genetic variation contributing to triple-negative breast cancer , an aggressive breast cancer subtype, has not yet been fully elucidated. TNBC, which accounts for 1025% of breast tumors, is characterized by absence of expression of the estrogen receptor , progesterone receptor and lack of amplification of the human epidermal growth factor receptor 2 . Patients with TNBC do not benefit from hormonal or anti-HER2 therapy, and exhibit high recurrence risk and poor survival rate in the first 5 years following diagnosis . TNBC patients usually have an early onset of disease and positive family history of breast and/or ovarian cancer, suggesting a strong association with genetic factors . Emerging studies also suggest TNBC may have a genetic risk profile different from other subtypes of breast cancer . Establishing the genetic landscape of TNBC and identifying actionable mutations may lead to better clinical management and therapy response prediction for this aggressive and difficult-to-treat subtype.

Risks For Breast Cancer

Breast Cancer (Hereditary Factors)

A risk factor is something that increases the risk of developing cancer. It could be a behaviour, substance or condition. Most cancers are the result of many risk factors. But sometimes breast cancer develops in women who dont have any of the risk factors described below.

Most breast cancers occur in women. The main reason women develop breast cancer is because their breast cells are exposed to the female hormones estrogen and progesterone. These hormones, especially estrogen, are linked with breast cancer and encourage the growth of some breast cancers.

Breast cancer is more common in high-income, developed countries such as Canada, the United States and some European countries. The risk of developing breast cancer increases with age. Breast cancer mostly occurs in women between 50 and 69 years of age.

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Whether A Person Should Get Tested For Hereditary Kidney Cancer Depends On Certain Factors

Certain clues in a person’s medical history or family history may lead health professionals to think that an individual may have a hereditary syndrome. These individuals may benefit from genetic counseling and genetic testing. With kidney cancer, individuals who have one or more of the following criteria may be referred for genetic testing:

  • Multiple family members have had kidney cancer.
  • Cancer developed at a young age.
  • Multiple tumors in one kidney or cancer in both kidneys.
  • Diagnosis of a type of kidney cancer that is known to be commonly inherited.

What Should I Do If I Am Concerned

If you are concerned about a history of breast cancer in your family you should see your GP. They will want to take a family history. Before seeing your GP, it is a good idea to try to find out who in your family has been diagnosed with breast cancer , at what age they were diagnosed and their exact blood relationship to you.

Your GP will wish to know any relevant details about first- and second-degree relatives .

  • First-degree relatives are mother, father, daughters, sons, sisters, or brothers.
  • Second-degree relatives are grandparents, grandchildren, aunts, uncles, nieces, nephews, half-sisters and half-brothers.

On the basis of the family history, it is usually possible for your GP to assess your risk as either near-normal, moderate, or high. If your risk is moderate or high then, if you wish, you may be referred to a doctor who is a specialist for further assessment and counselling.

For details of the factors used to assess the risk, see the website of the National Institute for Health and Care Excellence under Further reading & references, below. It has produced guidelines which doctors can refer to when assessing the risk of breast cancer for individual women.

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Guidelines For Breast Cancer Screening

If you have a genetic risk factor for breast cancer, regular screening is an essential part of your care. Specialists have access to additional resources for calculating patients breast cancer risk, and can use these data to recommend screening schedules. Your doctor will recommend a screening plan thats most appropriate for you.

At Johns Hopkins, enhanced surveillance for high-risk patients consists of a breast exam every six months, alternating mammograms with MRI scans to minimize radiation exposure, says Ninan. For women with a family history of breast cancer but with no known gene mutation, screening can begin five years before the earliest age at diagnosis in the family. For example, if your mother was diagnosed when she was 35, you should begin screening when you are 30.

For women with a BRCA1 or BRCA2 mutation, screening could start as early as age 25, Ninan says. There is some concern that the radiation exposure from mammograms performed before age 30 could increase breast cancer risk, especially in BRCA1 and BRCA2 mutation carriers. With that in mind, screening early in life usually consists of breast exams and MRI scans, if called for.

What Is Hereditary Breast And Ovarian Cancer

Hereditary Breast Cancer – Mayo Clinic

A diagnosis of Hereditary Breast and Ovarian Cancer Syndrome is considered when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family. The chance that a family has HBOC increases in any of these situations:

  • 1 or more women are diagnosed at age 45 or younger

  • 1 or more women are diagnosed with breast cancer before age 50 with an additional family history of cancer, such as prostate cancer, melanoma, and pancreatic cancer

  • There are breast and/or ovarian cancers in multiple generations on the same side of the family, such as having both a grandmother and an aunt on the fathers side both diagnosed with these cancers

  • A woman is diagnosed with a second breast cancer in the same or the other breast or has both breast and ovarian cancers

  • A male relative is diagnosed with breast cancer

  • There is a history of breast cancer, ovarian cancer, prostate cancer, and/or pancreatic cancer on the same side of the family

  • Having Ashkenazi Jewish ancestry

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Understanding Breast Cancer Genetics

You don’t have to be a geneticist to understand the basics of breast cancer genetics. Genes are short segments of DNA, and DNA holds the instructions for building proteins. Proteins control the structure, growth, and function of all the cells in our bodies.

When DNA gets an incorrect set of instructions, cells don’t grow or function correctly. Any mistake in a gene will be in all the cells that contain that gene. These mistakes can be inherited, or they can happen over time as we age. It doesn’t mean they will be inherited or happen over time, only that they could be.

Gene mutations that are known to cause an increase in breast cancer risk are BRCA1 and BRCA2 . You may have heard doctors call them “brack-uh” or “breck-uh” genes. Everyone has these genes, and their function is to repair cell damage and keep breast and ovarian cells growing normally.

Genes come in pairs in your DNA strands. One comes from each parent. However, only one gene in a gene pair can be active. One gene is dormant, and the other is dominant. If a gene is dormant, it may do nothing right now, but you can pass it down to your children. Dominant genes are active in you and can also be passed to your children. In the case of BRCA genes, they’re always dominant. That means BRCA gene mutations will always increase your risk of getting breast cancer before age 70.

What Your Breast Cancer Genetic Tests Results Mean

Having a positive genetic test result doesnt mean youll get cancer. It means you have a higher risk of getting breast cancer than people without the mutation.

  • Women without breast cancer gene mutations have a 12% lifetime risk of breast cancer.
  • Women with a BRCA mutation have up to an 80% lifetime risk of breast cancer.
  • Women with the PTEN mutation have an 85% lifetime risk.
  • Men with the BRCA2 mutation have about an 8% lifetime risk, 80 times greater than males without the mutation.

Even if you get tested and get a negative result, dont skip mammograms or other health screenings, and continue to follow the American Cancer Societys guidelines.

Most cases of breast cancer arent hereditary, says Dr. Eng. A negative result means you dont have the known gene mutations for breast cancer. But you can still get breast cancer.

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Common Breast Cancer Mutations

Researchers have identified several key gene changes linked to breast cancer. Some of these pose a high risk, while others seem to be less significant.


The BRCA1 and BRCA2 inherited gene mutations are the most common cause of hereditary breast cancer. Mistakes in these genes account for up to 10% of all breast cancers. BRCA mutations also raise your chances for ovarian cancer, pancreatic cancer, and, in men, prostate cancer. A BRCA mutation may raise your chances of colon cancer. Women with a BRCA1 or BRCA2 mutation have up to a 72% chance of breast cancer during their lifetime.


Normally, the PALB2 gene makes a protein that works with the BRCA2 gene protein to repair damaged DNA and stop tumor growth. But defects in the gene can lead to a higher likelihood of breast cancer. Some studies suggest that women with a PALB2 mutation have a 14% chance of breast cancer by age 50 and a 35% chance by age 70.



The HER2 gene makes a protein called HER2 . This protein is found on the surface of all breast cells and that helps them grow. If the HER2 gene malfunctions and makes too many copies of itself, it tells cells to make too much HER2 protein. This causes the cells to grow out of control.




Researchers have discovered many other genes related to breast cancer.

Changes in the following genes may also raise your chances:

  • BARD1

What Genes Are Linked To Breast Cancer

Association between hereditary breast cancers and molecular ...

The term breast cancer genes means genes that, when altered , increase your risk of getting breast cancer. These gene mutations shut down some of your natural cancer-fighting genes. When you dont have your full army of genes fending off cancer, your risk of certain cancers goes up.

BRCA1 and BRCA2 are the most common breast cancer genes when mutated, followed closely by PTEN mutations, says Dr. Eng. But several other breast cancer gene mutations exist. We know of at least 14 different genes right now, and we are currently exploring several others, too.

These gene mutations arent limited to breast cancer risk. Some of these gene mutations may also increase the risk of:

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Having Radiation To Your Chest

Women who were treated with radiation therapy to the chest for another cancer when they were younger have a significantly higher risk for breast cancer. This risk depends on their age when they got radiation. The risk is highest for women who had radiation as a teen or young adult, when the breasts were still developing. Radiation treatment in older women does not seem to increase breast cancer risk.

Hereditary Leiomyomatosis And Renal Cell Cancer

HLRCC is a hereditary syndrome that increases the risk of kidney cancer. HLRCC is associated with a unique type of kidney cancer that can be fast growing and may lead to different treatment decisions. People with HLRCC can also develop skin lesions known as leiomyomas and uterinefibroids .

HLRCC is caused by mutations in the FHgene. The FH gene makes a protein called fumarase. Fumarase helps cells use oxygen and produce energy. When the FH gene is mutated, cells are not able to use oxygen, which may lead to cancer. These mutations are passed from parents to children. The syndrome caused by these mutations is inherited in an autosomal dominant fashion. If one parent has HLRCC, there is a 50% chance for a child to inherit the mutation.

Learn more about HLRCC from the NCATS Genetic and Rare Diseases Information Center.

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Symptoms Of Triple Negative Breast Cancer

The symptoms of triple negative breast cancer are similar to other breast cancer types.

Symptoms can include:

  • a new lump or thickening in your breast or armpit
  • a change in size, shape or feel of your breast
  • skin changes in the breast such as puckering, dimpling, a rash or redness of the skin
  • fluid leaking from the nipple in a woman who isnt pregnant or breast feeding
  • changes in the position of nipple

Make an appointment to see your GP if you notice anything different or unusual about the look and feel of your breasts.

Genetic Risk Factors For Breast Cancer: Clinical Applications

Hereditary Cancer Syndrome

As understanding of the genetic basis of breast cancer increases, further refinement in genetic risk models can be expected. The different genetic basis of tumor subtypes is a clear example of where refinement might take place as genetic profiles become predictive of tumor characteristics. At this stage, it is already well established that women with, or at higher risk for, ER+ cancer are a good candidates for treatment with tamoxifen or raloxifene that specifically targets ER+ disease.

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How Common Is Hboc

Most breast and ovarian cancers are sporadic, meaning they occur by chance with no known cause. Most women who have breast or ovarian cancer do not have HBOC.

Currently, it is estimated that less than 1% of the general population has a mutation in the BRCA1 or BRCA2 genes, and up to 10% of women and 20% of men diagnosed with breast cancer have a mutation in 1 of these genes. About 10% to 30% of women younger than 60 diagnosed with triple-negative breast cancer, which are cancers that do not have receptors for estrogen, progesterone, and HER2, have a BRCA1 or BRCA2 gene mutation, and others will have mutations in other breast cancer risk genes. Therefore, doctors recommend that women with triple-negative breast cancer receive genetic counseling and genetic testing .

HBOC is most common in families who have had multiple cases of breast cancer and/or ovarian cancer on the same side of the family. In families with 4 or more cases of breast cancer diagnosed before age 60, the chance of HBOC is about 80%. To compare, the chance of finding HBOC when only 1 woman has had breast cancer diagnosed before age 50 is estimated to be 10% or less.

Families with Ashkenazi Jewish ancestry have an increased chance of having HBOC. There are 3 specific gene mutations, known as founder mutations, that are common in these families:

  • 185delAG in BRCA1

  • 5382insC in BRCA1

  • 6174delT in BRCA2


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