Cancer is a common disease, so most families will have some members who have had cancer. This means even if cancer does not run in a family, a family member can still be at risk for some type of cancer in his or her lifetime.

Hereditary verses Sporadic Cancer


Sporadic cancer and hereditary cancer differ in several ways that may affect health care decisions:


Hereditary cancers are caused in part by gene mutations passed on from parents to their children. Other blood relatives may share these same gene changes. Sporadic cancers are believed to arise from gene damage acquired from environmental exposures, dietary factors, hormones, normal aging, and other influences.


Hereditary cancers often occur earlier than the sporadic form of the same cancer, so experts often recommend different screening, at a younger age for people with a gene mutation or hereditary cancer in their family.


Hereditary cancers can sometimes be more aggressive than the sporadic form of the same cancer. For example, hereditary prostate cancers tend to be more aggressive and more likely to spread than sporadic prostate cancers. 


Hereditary cancers may respond to different treatments than sporadic cancers. For example, PARP inhibitors are drugs that were designed to treat cancers associated with BRCA mutations. The agent Keytruda has been approved for treating cancers in people with one of the mutations that causes Lynch Syndrome. 


Individuals who have inherited a gene change may be at a higher risk for more than one type of cancer. For cancer survivors, this may affect cancer treatment options, prevention, or follow-up care.


"Hereditary cancers” are those caused by an inherited gene mutation that increases the risk for one or more types of cancer. "Hereditary Breast and Ovarian Cancer Syndrome" (also known as HBOC) is most commonly caused by mutations in one of two genes: BRCA1 and BRCA2. These mutations increase the risk for breast, ovarian, pancreatic, prostate, melanoma and possibly other cancers.

  • ovarian, fallopian tube, or primary peritoneal cancer

  • breast cancer at age 50 or younger

  • two separate breast cancers

  • a type of breast cancer called “triple negative breast cancer”

  • male breast cancer

  • pancreatic cancer

  • prostate cancer at age 55 or younger or metastatic prostate cancer (cancer that spread outside the prostate)

  • Eastern European Jewish ancestry and any of the above cancers at any age


       Especially, if more than one family member on the same side of your family has had:

  • breast cancer

  • ovarian, fallopian tube, primary peritoneal cancer

  • prostate cancer

  • pancreatic cancer  

People with the following should discuss the possibility of genetic testing with a genetic counselor: 
Early Detection is Critical

Some of the Genes We Assess For Mutations and Why We Do 


Women with mutations in the ATM gene have an increased risk for breast cancer, sometimes at relatively young ages. This increase in risk is not as high as the risk for women with mutations in the genes BRCA1 and BRCA2, but it is high enough to consider options to reduce cancer risk and increased screening to make sure that any cancers that do develop are caught as early as possible.


Breast cancer: About 12% of women in the general population will develop breast cancer sometime during their lives. By contrast, a recent large study estimated that about 72% of women who inherit a harmful BRCA1 mutation and about 69% of women who inherit a harmful BRCA2 mutation will develop breast cancer by the age of 80. Like women from the general population, those with harmful BRCA1 or BRCA2 mutations also have a high risk of developing a new primary cancer in the opposite (contralateral) breast in the years following a breast cancer diagnosis. It has been estimated that, by 20 years after a first breast cancer diagnosis, about 40% of women who inherit a harmful BRCA1 mutation and about 26% of women who inherit a harmful BRCA2 mutation will develop cancer in their other breast. Ovarian cancer: About 1.3% of women in the general population will develop ovarian cancer sometime during their lives. By contrast, it is estimated that about 44% of women who inherit a harmful BRCA1 mutation and about 17% of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by the age of 80. In women, mutations in BRCA1 and BRCA2 increase the risk of several cancers in addition to breast and ovarian cancer. These include fallopian tube cancer and peritoneal cancer.
In men with BRCA2 mutations, and to a lesser extent BRCA1 mutations, are also at increased risk of breast cancer and prostate cancer. Both men and women with BRCA1 or BRCA2 mutations are at increased risk of pancreatic cancer. Certain mutations in BRCA2 (also known as FANCD1), if they are inherited from both parents, can cause a rare form of Fanconi anemia (subtype FA-D1), a syndrome that is associated with childhood solid tumors and development of acute myeloid leukemia


Women with mutations in the BRIP1 gene have an increased risk for ovarian cancer. We have only recently learned about this BRIP1-associate risk, so we do not yet know the exact size of the increase, but it may be as much as 5 times higher than the risk of ovarian cancer in women who do not have mutations in BRIP1. Women with mutations in BRIP1 also have an increased risk for breast cancer. The size of this increased risk may be small, but we do not yet know for sure. At this time, we do not know of any cancer risks for men with BRIP1 mutations. Women with mutations in BRIP1 can talk with their doctors and other healthcare providers about possible individualized recommendations such as special screening or, in the case of ovarian cancer, preventive surgery.


Deletions in EPCAM are inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease-causing mutation and a 75% lifetime risk of developing colorectal cancer. Moreover, this syndrome is associated with a 30% risk of a second primary colorectal cancer arising within 10 years of the first. Women may also have an increased lifetime risk for endometrial cancer, but this risk appears to be much lower than what is typically seen with germline mutations in the mismatch repair genes. The risk for other tumor types typically seen in the Lynch syndrome is currently not thought to be increased. Germline deletions in EPCAM were only recently discovered as a cause of Lynch syndrome, therefore clarification of the risks of extra-colonic cancers in this condition will likely to occur as more individuals and families are identified.


Men and women with a mutation in MLH1 have a 52-82% lifetime risk (up to age 70) to develop colon or rectal cancer. Moreover, this syndrome is associated with a 30% risk of a second colon or rectal cancer appearing within 10 years of the first colon cancer. It is important to note that colorectal cancer risk remains higher after age 70. Women also have a 25-60% lifetime risk for endometrial cancer and 4-13% lifetime risk for ovarian cancer (up to age 70). People with Lynch syndrome are also at increased risk for other cancers that include cancer of the stomach, urinary tract, ovaries, small intestine, pancreas or bile ducts, sweat glands, and brain. Individuals with Lynch syndrome also tend to have more precancerous colon polyps that grow faster than individuals without Lynch syndrome. For this reason, anyone with Lynch should have frequent colonoscopies, even if they have several clear colonoscopies in a row.


People with mutations in both copies of their MUTYH gene have a condition known as MUTYH-associated Polyposis syndrome, or MAP. People with MAP have a high risk for developing large numbers of pre-cancerous polyps in their colon and rectum. An individual with MAP usually develops more than 10 and fewer than 100 polyps. Each of these polyps can develop into a cancer, and since there are so many of them, the risk for colorectal cancer is very high. Some people with MAP will develop colorectal cancer even without having many polyps. People with MAP also have an increased risk for small bowel cancer. What does it mean to have a mutation in only copy of the MUTYH gene?


People with mutations in the PTEN gene have a condition called PTEN Hamartoma Tumor Syndrome, or PHTS. In the past, people with PTEN mutations were sometimes given other diagnoses, depending on their individual symptoms. Examples include the diagnoses of Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba Syndrome (BRRS), PTEN-related Proteus Syndrome or Proteus-like Syndrome. We now know that all of these conditions are caused by mutations in the PTEN gene. People with PHTS have a high risk for female breast, endometrial, colorectal, melanoma, kidney, and thyroid cancers.

Can Cancer Be Prevented?

Most experts are convinced that many cancers can either be prevented or the risk of developing cancers can be markedly reduced. Some of the cancer prevention methods are simple; others are relatively extreme, depending on an individual's view. 


Cancer prevention, by avoiding its potential causes, is the simplest method. First on most clinicians and researchers list is to stop (or better, never start) smoking tobacco. Avoiding excess sunlight (by decreasing exposure or applying sunscreen and many of the chemicals and toxins are excellent ways to avoid cancers. Avoiding contact with certain viruses and other pathogens also are likely to prevent some cancers. People who have to work close to cancer-causing agents (chemical workers, X-ray technicians, ionizing radiation researchers, asbestos workers) should follow all safety precautions and minimize any exposure to such compounds.


People with a genetic predisposition to develop certain cancers and others with a history of cancers in their genetically linked relatives currently cannot change their genetic makeup.  However, some individuals who have a high possibility of developing genetically linked cancer can take actions to prevent cancer development.


Screening tests and studies for cancer are meant to help detect a cancer at an early stage when the cancer is more likely to be potentially cured with treatment. Such screening studies are breast exams, testicular exams, colon-rectal exams certain blood tests, prostate exams, urine tests and others.


People who have any suspicion that they may have cancer should discuss their concerns with their doctor as soon as possible. An individual patient's unique personal and family circumstances should always be considered by doctors in making recommendations about ordering or not ordering screening tests.

Why Take a Hereditary Cancer Test?

Because the genes we are born with may contribute to our risk of developing certain types of cancer, some people are genetically predisposed, and therefore, although they may not necessarily get cancer, they have a higher risk of developing the disease than those in the general population.


For example, a BRCA1 mutation can increase a woman’s chance of breast cancer up to 81% by age 80.  An APC gene mutation can increase a man or woman's chances of colorectal cancer up to 70-100% by age 80 without surgical intervention.


Statistics support that if diagnosed in stage one, breast cancer has 99% five-year survival rate, and colorectal cancer has a 92% five-year survival rate, if diagnosed in stage 4, their five - year survival rates respectively are 22% and 11%.


Additionally, these mutations are usually inherited from one or both of the person’s parents and are present in nearly every cell of the body. Because hereditary mutations are present in the DNA of sperm and egg cells, they can be passed down in families.


Throughout our chromosomes, of which we inherit 50% from our mother, and 50% from our father, are approximately 25,000 genes, which are functional units of DNA. Our cells use genes to make proteins and other substances that are necessary for life. In some genes, changes in the DNA called mutations have been linked to cancer.


Cancer may arise as a natural consequence of aging or when a cell’s DNA has been damaged. Such acquired mutations are only present in some of the body’s cells, and they are not passed on from parents to their children.


However, with the advent of the Human Genome Project, scientists have determined, through genetic DNA assessment, how to identify a number of hereditary mutations that can contribute to an individual’s risk of developing certain cancers, including breast, ovarian, colorectal, and prostate, as well as some other, less common cancer types.


Hereditary genetic DNA assessment involves a simple saliva test whose results will provide a more precise evaluation of your hereditary cancer risk. Our scientific test, overseen by highly trained molecular geneticists, utilizing the most advanced technology, produces medically actionable results. Additionally, hereditary disorders run in families, so your results could help your loved ones develop their own personalized risk assessment plan.

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Hereditary Breast and Ovarian cancer (HBOC) risk and genetic testing in MEN.

There is a mistaken and dangerous belief among some health care providers and many consumers that men cannot carry, or pass on a BRCA, or other mutation in a gene associated with HBOC. Equally dangerous is the mistaken belief that men who inherit mutations do not have increased cancer risk. Given the use of the words “breast and ovarian cancer” in the HBOC name, it is not surprising.


As in women, having a BRCA mutations can increase a man’s risk for pancreatic cancer and melanoma. BRCA mutations can also increase the risk for male breast cancer, although not as greatly as for women. The mutations can be associated with an increased risk for aggressive prostate cancer. Importantly, as with women, men can pass on their inherited mutation to their sons and daughters.


Despite these known risks, there is more media attention on women than men with mutations and very little research and resources have focused on genetic testing of men. This has led to common misperceptions about men and mutations associated with HBOC.

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