Increased Risk Of Breast Cancer

When a woman is diagnosed with cancer, she needs to consider her family’s history of cancer. Some cancers are inherited; however, most are spontaneous. If there is a concern with a family pattern of cancer, then a thorough family history should be taken. Sometimes this leads to formal genetic counseling with blood testing for specific gene mutations. If you have a specific gene mutation putting you at risk for breast or ovarian cancer, then surveillance testing or procedures are different from those with a spontaneous cancer. Therefore, start with telling your oncologist your family history. I'm not sure what is standard, but my gynecologist is going to give me internal ultrasounds to check my ovaries yearly until I'm 40 years old. Then when I turn 40, the plan right now is to have my ovaries removed. Unless anything funny looks like it's going on, then they get pulled then. I should note I'm 32 right now, so that may change.
My breast specialist thought this plan was fine so we're running with it.

Having one gynecologic cancer does not increase your risk of having other types of gynecologic cancer. However, women with a hereditary cancer syndrome are at increased risk of developing a gynecologic cancer. These syndromes include Hereditary Breast and Ovarian Cancer (HBOC) caused by a BRCA mutation as well as Lynch syndrome, also called hereditary nonpolyposis colorectal cancer (HNPCC). Women with HBOC syndrome have markedly elevated risks of breast cancer and ovarian cancer, with a lifetime risk of breast cancer of 50 to 85 percent and a 15 to 40 percent chance of developing ovarian cancer. There is also an increased risk of a second breast cancer diagnosis.

Lynch syndrome is associated with cancer diagnosis at an early age and the development of multiple cancer types, particularly colon and endometrial cancer. Until recently, the majority of attention and research related to Lynch syndrome has focused on colorectal cancer. However, women with Lynch syndrome have a 27 to 71% risk of endometrial cancer, which equals or exceeds their risk of colorectal cancer. This is significantly higher than the 3% risk of endometrial cancer in the general population. In addition, women with Lynch syndrome have a 8-11% risk of ovarian cancer, compared with 1.5% in the general population. The management of endometrial and ovarian cancer risks in women with HBOC or Lynch syndrome includes surveillance, chemoprevention and risk-reducing surgery.
Having one gynecologic cancer does not increase your risk of having other types of gynecologic cancer. However, women with a hereditary cancer syndrome are at increased risk of developing a gynecologic cancer. These syndromes include Hereditary Breast and Ovarian Cancer (HBOC) caused by a BRCA mutation as well as Lynch syndrome, also called hereditary nonpolyposis colorectal cancer (HNPCC). Women with HBOC syndrome have markedly elevated risks of breast cancer and ovarian cancer, with a lifetime risk of breast cancer of 50 to 85 percent and a 15 to 40 percent chance of developing ovarian cancer. There is also an increased risk of a second breast cancer diagnosis.

Lynch syndrome is associated with cancer diagnosis at an early age and the development of multiple cancer types, particularly colon and endometrial cancer. Until recently, the majority of attention and research related to Lynch syndrome has focused on colorectal cancer. However, women with Lynch syndrome have a 27 to 71% risk of endometrial cancer, which equals or exceeds their risk of colorectal cancer. This is significantly higher than the 3% risk of endometrial cancer in the general population. In addition, women with Lynch syndrome have a 8-11% risk of ovarian cancer, compared with 1.5% in the general population. The management of endometrial and ovarian cancer risks in women with HBOC or Lynch syndrome includes surveillance, chemoprevention and risk-reducing surgery.

A nice review of hereditary breast cancer is found in the textbook The Breast by Bland and Copeland. The chapter by Lynch, Marcus, Lynch Snyder and Rubenstein (chapter 21), reviews hereditary predisposition.

BRCA 1 and 2 account for the majority of inherited breast cancer. Other syndromes which include increased risk of breast cancer are:
Li-Fraumeni (p53)
Cowden's disease (pTEN)
Hereditary diffuse gastric cancer (CDH1)
CHEK 2
Peutz-Jeghers syndrome

Ataxia telangiectasia, Fanconi's anemia and Bloom's syndrome also confer increased risk. A nice review of hereditary breast cancer is found in the textbook The Breast by Bland and Copeland. The chapter by Lynch, Marcus, Lynch Snyder and Rubenstein (chapter 21), reviews hereditary predisposition.

BRCA 1 and 2 account for the majority of inherited breast cancer. Other syndromes which include increased risk of breast cancer are:
Li-Fraumeni (p53)
Cowden's disease (pTEN)
Hereditary diffuse gastric cancer (CDH1)
CHEK 2
Peutz-Jeghers syndrome

Ataxia telangiectasia, Fanconi's anemia and Bloom's syndrome also confer increased risk.

I use the definition used in the NSABP chemoprevention trials NSABP-P01 and -P02. In those studies the Gail model was used and high risk was defined as a five year risk of 1.67 or greater. This number is the cut-off for referral for consideration for tamoxifen or raloxifene to decrease risk. The Gail model takes into account current age, ethnicity, age of first menstrual period, age of first live birth, family history of breast cancer (first degree relatives), number of excisional biopsies and whether or not atypia was found on those biopsies. Other models exist such as BRCAPRO, Claus, or Tyrer-Cuzick. The American Cancer Society recommends annual MRI for patients who have a lifetime risk of breast cancer of 20% or higher.

I am a pragmatist by nature, and I know that when I am on the phone with an insurance company to obtain pre-certification for a screening breast MRI for one of my patients, I will be asked the Gail model lifetime risk. Therefore this is the model I use most often, the calculator for which I carry in my pocket.

The model can underestimate risk when there is inherited predisposition, such as BRCA 1 or 2 positivity. As I'm sure many of the readers of this website know, female carriers of a deleterious mutation of BRCA 1 or 2 have a lifetime risk of breast cancer of 50-80%. I use the definition used in the NSABP chemoprevention trials NSABP-P01 and -P02. In those studies the Gail model was used and high risk was defined as a five year risk of 1.67 or greater. This number is the cut-off for referral for consideration for tamoxifen or raloxifene to decrease risk. The Gail model takes into account current age, ethnicity, age of first menstrual period, age of first live birth, family history of breast cancer (first degree relatives), number of excisional biopsies and whether or not atypia was found on those biopsies. Other models exist such as BRCAPRO, Claus, or Tyrer-Cuzick. The American Cancer Society recommends annual MRI for patients who have a lifetime risk of breast cancer of 20% or higher.

I am a pragmatist by nature, and I know that when I am on the phone with an insurance company to obtain pre-certification for a screening breast MRI for one of my patients, I will be asked the Gail model lifetime risk. Therefore this is the model I use most often, the calculator for which I carry in my pocket.

The model can underestimate risk when there is inherited predisposition, such as BRCA 1 or 2 positivity. As I'm sure many of the readers of this website know, female carriers of a deleterious mutation of BRCA 1 or 2 have a lifetime risk of breast cancer of 50-80%.

Having atypical ductal hyperplasia (ADH - typically found on a needle biopsy performed for concerning calcifications on a mammogram) does indicate an increased risk for the future development of breast cancer. If ADH is found on a needle biopsy, most would recommend surgery to remove that area as there is a small possibility that a cancer might be present, just missed on the needle biopsy. If no cancer is present, options include close surveillance (which might include MRI exams in addition to mammograms) and consideration for the use of tamoxifen or raloxifene as preventative agents. It is important to understand that the increased risk for the future development of breast cancer can be in either breast, not just the one that had the ADH. Having atypical ductal hyperplasia (ADH - typically found on a needle biopsy performed for concerning calcifications on a mammogram) does indicate an increased risk for the future development of breast cancer. If ADH is found on a needle biopsy, most would recommend surgery to remove that area as there is a small possibility that a cancer might be present, just missed on the needle biopsy. If no cancer is present, options include close surveillance (which might include MRI exams in addition to mammograms) and consideration for the use of tamoxifen or raloxifene as preventative agents. It is important to understand that the increased risk for the future development of breast cancer can be in either breast, not just the one that had the ADH.