The Cancer Connection

Breast cancer affects about 1 in 8 women; making it the most common cancer diagnosis in women in the United States. Ovarian cancer affects about 1 in 75 women. Women with a genetic mutation linked to breast and/or ovarian cancer are at much higher risk of developing these diseases at an earlier age than women born with a normal set of genes. Genetic differences do act as signposts for breast and ovarian cancer, but it’s incredibly important to understand that most cancer isn’t actually the result of an inherited mutation.

In fact, only about 10-15% of cancer is hereditary. The majority of cancers are part of a group called “sporadic” – cancers that occur by chance and may be tied to things like your lifestyle or the environment. Most of breast and ovarian cancer cases occur in older women with little or no family history – and also no genetic risk.

And even if you do have a mutation, it doesn’t automatically mean you’ll get cancer. No matter your risk level, there’s always something you can do to be proactive and reduce your risk.

The Cancer Connection

The Family Connection—What It Means

The Family Connection – What It Means

Healthcare providers and genetic counselors look for patterns in your family health history that help tell if you’re at higher risk of developing breast and/or ovarian cancer. If cancer runs in your family, a mutation may be to blame. But some families have a significant cancer history, with no identifiable mutations. Histories like these are called “familial,” with the cancer connection caused by things like environment, lifestyle, or even other gene mutations that simply haven’t been identified or studied yet (though note: the identification and study of new mutations is advancing at a rapid rate).

As you work through your own family history, you’re aiming for complete information – parents, children, brothers, sisters, grandparents, aunts, uncles, nieces, nephews, and cousins – going back three generations. More information is better, but gaps are OK. Find out which relatives had cancer, what kind of cancer they had and how old they were when they were diagnosed. While breast and ovarian cancers are important, other cancers can be indicators – so do your best to capture everything you can.

COMPLETE OUR FAMILY HEALTH HISTORY WORKSHEET
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Cancer Connection
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BRCA and Beyond

If you’ve talked to your healthcare provider or read much about breast and ovarian cancer, you may already be familiar with the most well known gene mutations – BRCA1 and BRCA2. A whole new generation of geneticists has steadily identified and confirmed more and more gene mutations linked to breast and ovarian cancer– you can learn about a lot of them below – and helped socialize the idea that testing is a smart way to stay proactive about your health.

As you’re looking at the information below, remember that the percentages show lifetime risk, the chance that a woman carrying a specific gene mutation will be diagnosed with breast or ovarian cancer.

  • Hereditary Breast and Ovarian Cancer Syndrome (BRCA1)

    BRCA1 indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

    BREAST CANCER
    Up to 87%
    OVARIAN CANCER
    Up to 54%

    Also associated with pancreatic, prostate, melanoma, as well as other cancers.

  • Hereditary Breast and Ovarian Cancer Syndrome (BRCA2)

    BRCA2 indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

    BREAST CANCER
    Up to 84%
    OVARIAN CANCER
    Up to 27%

    Also associated with pancreatic, prostate, melanoma, as well as other cancers.

  • Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)

    Lynch syndrome indicates a high risk for developing ovarian cancer over the course of a lifetime.

    OVARIAN CANCER
    Up to 4%–12%

    Also associated with colon, endometrium, stomach, as well as other cancers

  • Li-Fraumeni Syndrome (TP53)

    Li-Fraumeni syndrome indicates a high risk for developing breast cancer over the course of a lifetime.

    BREAST CANCER
    Up to 79%
    OVARIAN CANCER
    Increased*

    Also associated with soft tissue and bone sarcomas, leukemia, as well as brain, adrenocortical, choroid plexus, bronchoalveolar lung, kidney, skin and other cancers.

    *Mutations in this gene are still being studied to determine the extent of the risk of developing ovarian cancer.

  • Cowden Syndrome (PTEN)

    Cowden syndrome indicates a high risk for developing breast cancer over the course of a lifetime. Note that the risk of cancer begins rising around age 25, since the mutation starts to present itself in women between 25 and 40.

    BREAST CANCER
    Up to 55%–85%

    Also associated with an increased risk of endometrial, melanoma, thyroid, brain, kidney, and colon cancers.

  • Peutz-Jeghers Syndrome (STK11)

    Peutz-Jeghers syndrome indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

    BREAST CANCER
    Up to 44%–50%
    OVARIAN CANCER
    Up to 18%–21%

    Also associated with cancers of the small bowel, stomach, colorectal, pancreas, lung, endometrium and other health issues such as specific types of polyps in your gastrointestinal tract and patches of darker colored skin on your lips and mouth.

  • Hereditary Diffuse Gastric Cancer (CDH1)

    Hereditary diffuse gastric cancer indicates a high risk for developing breast cancer over the course of a lifetime.

    BREAST CANCER
    Up to 39–52%

    Also associated with a high risk of diffuse gastric cancer.

BRCA1 indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

BREAST CANCER
Up to 87%
OVARIAN CANCER
Up to 54%

Also associated with pancreatic, prostate, melanoma, as well as other cancers.

BRCA2 indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

BREAST CANCER
Up to 84%
OVARIAN CANCER
Up to 27%

Also associated with pancreatic, prostate, melanoma, as well as other cancers.

Lynch syndrome indicates a high risk for developing ovarian cancer over the course of a lifetime.

OVARIAN CANCER
Up to 4%–12%

Also associated with colon, endometrium, stomach, as well as other cancers

Li-Fraumeni syndrome indicates a high risk for developing breast cancer over the course of a lifetime.

BREAST CANCER
Up to 79%
OVARIAN CANCER
Increased*

Also associated with soft tissue and bone sarcomas, leukemia, as well as brain, adrenocortical, choroid plexus, bronchoalveolar lung, kidney, skin and other cancers.

*Mutations in this gene are still being studied to determine the extent of the risk of developing ovarian cancer.

Cowden syndrome indicates a high risk for developing breast cancer over the course of a lifetime. Note that the risk of cancer begins rising around age 25, since the mutation starts to present itself in women between 25 and 40.

BREAST CANCER
Up to 55%–85%

Also associated with an increased risk of endometrial, melanoma, thyroid, brain, kidney, and colon cancers.

Peutz-Jeghers syndrome indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

BREAST CANCER
Up to 44%–50%
OVARIAN CANCER
Up to 18%–21%

Also associated with cancers of the small bowel, stomach, colorectal, pancreas, lung, endometrium and other health issues such as specific types of polyps in your gastrointestinal tract and patches of darker colored skin on your lips and mouth.

Hereditary diffuse gastric cancer indicates a high risk for developing breast cancer over the course of a lifetime.

BREAST CANCER
Up to 39–52%

Also associated with a high risk of diffuse gastric cancer.

  • PALB2

    PALB2 indicates a high risk for developing breast cancer over the course of a lifetime.

    BREAST CANCER
    Up to 33%–58%

    Also associated with pancreatic cancer and possibly ovarian cancer.

  • CHEK2

    CHEK2 indicates a high risk for developing breast cancer over the course of a lifetime.

    BREAST CANCER
    Up to 28%–37%

    Also associated with prostate, colorectal, thyroid, lung, and kidney cancers.

  • ATM

    ATM indicates a high risk for developing breast cancer over the course of a lifetime.

    BREAST CANCER
    Up to 15%–20%

    Also associated with pancreatic, stomach, leukemia, lymphoma, and lung cancers.

  • NBN

    NBN indicates a high risk for developing breast cancer over the course of a lifetime.

    BREAST CANCER
    Up to 30%

  • BARD1

    BARD1 indicates a high risk for developing ovarian cancer over the course of a lifetime.

    OVARIAN CANCER
    3X more likely to develop

    Mutations in this gene are still being studied to determine the extent of the risk of developing breast cancer.

  • BRIP1

    BRIP1 indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime. Women with this mutation are 3X more likely to develop ovarian cancer than those without it.

    BREAST CANCER
    Up to 20%
    OVARIAN CANCER
    Up to 8%

  • RAD51C

    RAD51C indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

    BREAST CANCER
    Increased*
    OVARIAN CANCER
    Up to 6.5%

    *Mutations in this gene are still being studied to determine the extent of the risk of developing breast cancer.

  • RAD51D

    RAD51D indicates a high risk for developing ovarian cancer over the course of a lifetime.

    OVARIAN CANCER
    Up to 7–10%

    Mutations in this gene are still being studied to determine the extent of the risk.

PALB2 indicates a high risk for developing breast cancer over the course of a lifetime.

BREAST CANCER
Up to 33%–58%

Also associated with pancreatic cancer and possibly ovarian cancer.

CHEK2 indicates a high risk for developing breast cancer over the course of a lifetime.

BREAST CANCER
Up to 28%–37%

Also associated with prostate, colorectal, thyroid, lung, and kidney cancers.

ATM indicates a high risk for developing breast cancer over the course of a lifetime.

BREAST CANCER
Up to 15%–20%

Also associated with pancreatic, stomach, leukemia, lymphoma, and lung cancers.

NBN indicates a high risk for developing breast cancer over the course of a lifetime.

BREAST CANCER
Up to 30%

BARD1 indicates a high risk for developing ovarian cancer over the course of a lifetime.

OVARIAN CANCER
3X more likely to develop

Mutations in this gene are still being studied to determine the extent of the risk of developing breast cancer.

BRIP1 indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime. Women with this mutation are 3X more likely to develop ovarian cancer than those without it.

BREAST CANCER
Up to 20%
OVARIAN CANCER
Up to 8%

RAD51C indicates a high risk for developing breast and/or ovarian cancer over the course of a lifetime.

BREAST CANCER
Increased*
OVARIAN CANCER
Up to 6.5%

*Mutations in this gene are still being studied to determine the extent of the risk of developing breast cancer.

RAD51D indicates a high risk for developing ovarian cancer over the course of a lifetime.

OVARIAN CANCER
Up to 7–10%

Mutations in this gene are still being studied to determine the extent of the risk.

Testing for genetic mutations can be part of a smart, proactive strategy as you plan for the future. Your results can also help you make important healthcare choices – like medication, advanced screenings, or risk-reducing surgeries – that can reduce your risk of breast and ovarian cancer or detect these diseases at early non-life threatening stages.

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