Knowing about hereditary risk for cancer can be important information for you and your family members.
Explore the cancer types below to learn about some of the hereditary conditions seen in our Cancer Genetics and Prevention Clinic.
Hereditary Cancer Conditions
More About the Conditions We Treat
Breast cancer is the most common type of cancer among individuals assigned female at birth in the United States. Risk factors can include certain breast biopsy findings, reproductive history, and lifestyle, including excess weight, alcohol consumption, lack of exercise, and family history.
About 5-10% of people with breast cancer have an inherited risk due to a gene mutation.
Signs of Hereditary Breast Cancer Risk
Factors that may indicate a hereditary risk for breast cancer include a personal or family history of:
- Breast cancer diagnosed before age 50
- Breast cancer in both breasts (bilateral breast cancer), or having breast cancer more than once
- Triple-negative breast cancer (cancers that do not have receptors for estrogen, progesterone, or a protein called HER2)
- An individual assigned male at birth with breast cancer
- Multiple relatives with breast cancer
- Other related cancers, including ovarian cancer, prostate cancer, and pancreatic cancer
- Ashkenazi (Eastern European) Jewish ancestry
There may be other factors that can raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for breast cancer in you or your family can be important for your health, or the health of your family members. Hereditary conditions that predispose to breast cancer may be linked to higher risks for other forms of cancer as well.
For People with Breast Cancer
Genetic testing may influence treatment:
- Surgical options
- Targeted therapies or medicines for cancer treatment
- Screening and risk-reduction options for other types of cancer
For People with or without Breast Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Earlier and/or more frequent screening for breast cancer, such as mammograms and/or breast MRIs
- Taking medication to reduce cancer risk
- Risk-reducing surgery to remove both breasts (bilateral mastectomy)
- Screening and risk-reduction options for other types of cancer, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Breast Cancers
There are many different genes associated with hereditary breast cancer risk. Our team will work with you to determine the best genetic test based on your personal and family history of cancer.
- Hereditary breast and ovarian cancer syndrome: BRCA1, BRCA2
- PALB2-associated breast cancer risk: PALB2
- ATM-associated breast cancer risk: ATM
- CHEK2-associated breast cancer risk: CHEK2
- RAD51C- and RAD51D-associated breast cancer risk: RAD51C, RAD51D
- BARD1-associated breast cancer risk: BARD1
- Hereditary diffuse gastric and lobular breast cancer syndrome: CDH1
- Li-Fraumeni syndrome: TP53
- PTEN hamartoma tumor syndrome/Cowden syndrome: PTEN
- Peutz-Jeghers syndrome: STK11
- Neurofibromatosis type 1: NF1
Gynecologic cancers are types of cancer that start in female reproductive organs, such as the ovaries, uterus, cervix, or vagina.
Some types of gynecologic cancers have a stronger hereditary component than others. About 10% of people with uterine or endometrial cancers and 20-25% of people with ovarian cancers are thought to have an inherited risk due to a gene mutation.
Other gynecologic cancers (such as cervical, vaginal, or vulvar) are more often explained by other risk factors such as viral exposures, and they are not usually thought to be hereditary.
Signs of Hereditary Gynecologic Cancer Risk
Factors that may indicate a hereditary risk for gynecologic cancers include a personal or family history of:
- Uterine (endometrial) cancer diagnosed before age 50
- Diagnosis of certain rare cancer types at any age, including ovarian cancer, fallopian tube cancer, or peritoneal cancer
- Multiple relatives diagnosed with uterine (endometrial) or ovarian cancers on the same side of a family
- Other related cancers, including colon cancer, pancreatic cancer, and breast cancer
There may be other factors that raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present.
Genetic testing may help to find the source of hereditary risk. For individuals diagnosed with cancer, various tests may be performed on the cancer or tumor cells to assess the likelihood of a hereditary condition. These tests include:
- Immunohistochemistry (IHC)
- Microsatellite instability (MSI)
- Tumor (somatic) genetic testing
Benefits of Genetic Testing
Knowing that there is an inherited risk for gynecologic cancer in you or your family can be important for your health or the health of your family members. Hereditary conditions that predispose to gynecologic cancer may be linked to higher risks for other forms of cancer as well.
For People with Gynecologic Cancer
Genetic testing may influence treatment, including:
- Surgical options
- Targeted therapies or medicines for cancer treatment
- Screening and risk-reduction options for other types of cancer
For People with or without Gynecologic Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including risk-reducing surgeries (also known as prophylactic or preventative surgeries) such as:
- Hysterectomy (removal of the uterus)
- Oophorectomy (removal of the ovaries)
- Salpingectomy (removal of the fallopian tubes)
Since it is challenging to detect gynecologic cancers at early stages, these procedures greatly reduce the chance of these cancers developing. The type of surgery and appropriate timing should be discussed with a physician and may vary based on the specific gene mutation, family history, family planning, and other factors.
Other ways to manage risk include:
- Extra imaging or blood work: Some physicians may recommend ultrasounds and blood tests as a next-best alternative; however, research has shown these options are not effective at detecting these types of cancer at early stages.
- Taking medication to reduce cancer risk
- Screening and risk-reduction options for other types of cancer, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Gynecologic Cancers
There are many different genes associated with hereditary gynecologic cancer risk. Our team will work with you to determine the best genetic test based on your personal and family history of cancer.
- Hereditary breast and ovarian cancer syndrome: BRCA1, BRCA2
- Lynch syndrome or hereditary nonpolyposis colorectal cancer: MLH1, MSH2, MSH6, PMS2, EPCAM
- PALB2-associated cancer risk: PALB2
- BRIP1-associated cancer risk: BRIP1
- RAD51C-associated cancer risk: RAD51C
- RAD51D-associated cancer risk: RAD51D
- ATM-associated cancer risk: ATM
- PTEN hamartoma tumor syndrome or Cowden syndrome: PTEN
- Peutz-Jeghers syndrome: STK11
- DICER1 tumor predisposition syndrome: DICER1
Colorectal cancer is a type of cancer that starts in the colon or the rectum. Many risk factors contribute to colorectal cancer, including lifestyle, environmental exposures, and family history.
About 5-10% of people with colorectal cancer have an inherited risk due to a mutation in a gene.
Signs of Hereditary Colorectal Cancer Risk
Factors that may indicate a hereditary risk for colorectal cancer include a personal or family history of:
- Colorectal cancer diagnosed before age 50
- Multiple polyps (abnormal growths in the lining of the colon or rectum) — typically 10 or more — but could be fewer based on certain features
- There are different types of colon polyps, and some may raise our suspicion for hereditary risk more than others. It is important to know the type, size, and location of polyps identified when assessing inherited risks.
- Multiple relatives with colorectal cancer or polyps
- Other related cancers, including uterine (endometrial) cancer, ovarian cancer, stomach cancer, pancreatic cancer, small intestine cancer, and brain tumors
There may be other factors that can raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present.
Genetic testing may help to find the source of hereditary risk. For individuals diagnosed with cancer, various tests may be performed on the cancer or tumor cells to assess the likelihood of a hereditary condition. These tests include:
- Immunohistochemistry (IHC)
- Microsatellite instability (MSI)
- Tumor (somatic) genetic testing
Benefits of Genetic Testing
Knowing that there is an inherited risk for colorectal cancer in you or your family can be important for your health, or the health of your family members. Hereditary conditions that predispose to colorectal cancer may be linked to higher risks for other forms of cancer as well.
For People with Colorectal Cancer
Genetic testing may influence treatment:
- Surgical options
- Targeted therapies or medicines for cancer treatment
- Screening and risk-reduction for other types of cancer
For People with or without Colorectal Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Earlier or more frequent screening with colonoscopies
- Taking medicine to reduce the risk for cancer
- Risk-reducing surgery to remove part or all of the colon (colectomy)
- Screening and risk-reduction for other types of cancer, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Colorectal Cancers
There are many different genes associated with hereditary colorectal cancer risk. Our team will work with you to determine the best genetic test based on your personal and family history of cancer.
- Lynch syndrome or Hereditary nonpolyposis colorectal cancer: MLH1, MSH2, MSH6, PMS2, EPCAM
- Familial adenomatous polyposis (FAP)/attenuated familial adenomatous polyposis (AFAP): APC
- MUTYH-associated polyposis (MAP): MUTYH
- NTHL1-associated polyposis: NTHL1
- MSH3-associated polyposis: MSH3
- Juvenile polyposis syndrome: BMPR1A, SMAD4
- Peutz-Jeghers syndrome: STK11
- PTEN hamartoma tumor syndrome: PTEN
- Li-Fraumeni syndrome: TP53
- Oligodontia-colorectal cancer syndrome: AXIN2
- Polymerase proofreading-associated polyposis (PPAP): POLE, POLD1
- Hereditary mixed polyposis syndrome: GREM1
- MBD4-associated neoplasia syndrome: MBD4
Pancreatic cancer is a relatively rare type of cancer, accounting for about 3% of all cancers in the United States. Many risk factors contribute to pancreatic cancer, including environmental exposures such as smoking or heavy alcohol use, weight, some health conditions such as diabetes or chronic pancreatitis, and family history.
About 10% of people with pancreatic cancer have an inherited risk due to a mutation in a gene.
Signs of Hereditary Pancreatic Cancer Risk
Factors that may indicate a hereditary risk for pancreatic cancer include a personal or family history of:
- Pancreatic ductal adenocarcinoma (PDAC), which starts in the cells that line the ducts of the pancreas
- All patients with PDAC and their close relatives are candidates for genetic testing
- Multiple relatives with pancreatic cancer on the same side of the family
- Other related cancers, including breast cancer, ovarian cancer, prostate cancer, cancers of the GI tract (colorectal, stomach, or small intestine), melanoma, and biliary tract cancers
Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for pancreatic cancer in you or your family can help guide individualized medical management recommendations to reduce the risk for cancer, or to detect a cancer early. Many hereditary conditions that predispose to pancreatic cancer are linked to higher risks for other forms of cancer as well.
For People with Pancreatic Cancer
Genetic testing may influence treatment:
- Targeted therapies/medicines for cancer treatment
- Screening and risk-reduction for other types of cancer
For People without Pancreatic Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Screening for pancreatic cancer, which is not routinely done in the general population. This may include a specialized pancreatic MRI (called MRCP) and endoscopic ultrasound of the pancreas.
- Screening and risk-reduction options for other types of cancer, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Pancreatic Cancer
There are many different genes associated with hereditary pancreatic cancer risk. Our team will work with you to determine the best genetic test based on your personal and family history of cancer.
- Hereditary breast and ovarian cancer syndrome: BRCA1, BRCA2
- Lynch syndrome: MLH1, MSH2, MSH6, PMS2, EPCAM
- Familial atypical multiple mole melanoma (FAMMM) syndrome (also called melanoma-pancreatic cancer syndrome): CDKN2A
- PALB2-associated cancer risk: PALB2
- ATM-associated cancer risk: ATM
- Peutz-Jeghers syndrome: STK11
- Li-Fraumeni syndrome: TP53
- Hereditary pancreatitis: PRSS1
Stomach (gastric) cancer is one of the most diagnosed cancers in the world. Many risk factors contribute to stomach cancer, including H. pylori bacterial infections, chronic gastritis (inflammation of the stomach), gastroesophageal reflux disease (GERD), pernicious anemia (a type of Vitamin B12 deficiency) diet, environmental exposures, and family history.
About 10% of people with stomach cancer have an inherited risk due to a mutation in a gene.
Signs of Hereditary Gastric Cancer Risk
Factors that may indicate a hereditary risk for stomach cancer include a personal or family history of:
- Stomach cancer diagnosed before age 50
- A diagnosis of diffuse gastric cancer (also known as Signet ring cell cancer). This is a type of cancer that grows in the stomach lining, rather than forming a mass or a tumor.
- Multiple polyps of the gastrointestinal (GI) tract (stomach, small intestine, or colon)
- Other related cancers, including breast cancer (especially lobular type), colorectal cancer, uterine (endometrial) cancer, pancreatic cancer, small intestine cancer, and ovarian cancer
There may be other factors that can raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for stomach cancer in you or your family can be important for your health, or the health of your family members. Hereditary conditions that predispose to gastric cancer may be linked to other forms of cancer as well.
For People with Gastric Cancer
Genetic testing may influence their treatment, including:
- Surgical options
- Targeted therapies or medicines for cancer treatment
- Screening and risk-reduction for other types of cancer
For People with or without Gastric Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Specialized screening for gastric cancer
- Endoscopy screening may start at an earlier age
- Endoscopy screening may be done more frequently
- Risk-reducing surgery to remove the stomach (gastrectomy)
- Screening and risk-reduction options for other types of cancers, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Gastric Cancer
There are a number of different genes associated with hereditary gastric cancer risk. Our team will work with you to determine the best genetic test based on your personal and family history of cancer.
- Hereditary diffuse gastric and lobular breast cancer syndrome: CDH1, CTNNA1
- Familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): APC
- Lynch syndrome: MLH1, MSH2, MSH6, PMS2, EPCAM
- Peutz-Jeghers syndrome: STK11
- Juvenile Polyposis syndrome: SMAD4, BMPR1A
- Li-Fraumeni syndrome: TP53
Hematologic malignancies are cancers of the blood, bone marrow, and immune system. These cancers are typically named by their cell type of origin. Examples include leukemia, myelodysplastic syndrome (MDS), lymphoma, and multiple myeloma.
Many risk factors contribute to hematologic malignancies, including aging, smoking, exposure to radiation and certain chemicals, prior chemotherapy, viral infection, and family history.
About 10-20% of children and adults with a hematologic malignancy have an inherited risk due to a mutation in a gene.
Signs of Hereditary Hematologic Malignancy Risk
Some factors that may indicate a hereditary risk for a hematologic malignancy include a personal or family history of:
- Having a longstanding history of unusually high or low blood counts of unknown cause
- Multiple relatives with the same or related form of hematologic malignancy
- Poorly functioning immune system with frequent infections in addition to a history of cancer
- Hematologic malignancy at an earlier than typical age for that cancer
- Certain sub-types of hematologic cancers, such as hypodiploid ALL, which have a significant chance of having a hereditary cause
There may be other factors that can raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present.
Genetic testing may help to find the source of hereditary risk. For someone with a cancer diagnosis, tests may be performed that could increase suspicion of a hereditary condition. Examples include the Rapid Heme Panel (RHP) or bone marrow biopsy that may find changes suggestive of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for hematologic malignancies in you or your family can be important for your health, or the health of your family members. Hereditary conditions that predispose to hematologic malignancies may be linked to higher risks for other forms of cancer as well. Early detection may lead to better outcomes.
For People with a Hematologic Malignancy
Genetic testing may influence treatment, including:
- Targeted therapy for treatment
- Assistance with optimal selection of a donor for stem cell transplant
- Medical preparation for stem cell transplant, called “conditioning,” may be influenced by the presence of a hereditary condition
- Genetic testing is often done using a blood or saliva sample.
- Genetic testing also may require a skin biopsy in which a tiny (4 mm) amount of skin is removed using local anesthetic.
For People without a Hematologic Malignancy
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Complete blood counts (CBCs) with differential regularly depending on the presence or absence of blood count abnormalities
- Annual clinical exam for signs or symptoms of a hematologic malignancy which may include fatigue, infections, unusual bruising or bleeding, and skin changes
- Tailored additional evaluation as needed
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Hematologic Malignancies
There are many different genes associated with hereditary hematologic malignancies. Our team will work with you to determine the best genetic test based on your personal and family history of cancer.
- ANKRD26-related thrombocytopenia: ANKRD26
- Ataxia-pancytopenia syndrome: SAMD9L
- CEBPA-associated familial AML: CEBPA
- DDX41-associated familial MDS and AML: DDX41
- ERCC6L2 bone marrow failure syndrome: ERCC6L2
- ETV6 thrombocytopenia and predisposition to leukemia: ETV6
- GATA2 deficiency: GATA2
- Li-Fraumeni syndrome: TP53
- MBD4 deficiency (hypermutated AML): MBD4
- MECOM-associated syndrome: MECOM
- MIRAGE syndrome: SAMD9
- PAX5-associated predisposition to ALL: PAX5
- RUNX1 familial platelet disorder: RUNX1
We also have expertise in the following hereditary hematologic cancer conditions:
- Ataxia telangiectasia
- Fanconi anemia
- Shwachman-Diamond syndrome
- Telomere biology disorders
Learn more about these hematologic malignancies in Bone Marrow Failure in Children.
Endocrine tumors are abnormal growths that arise in the endocrine tissues, which include the thyroid, pituitary, pancreas, and others. In many cases, endocrine tumors are benign (non-cancerous) but some can be malignant (cancerous). Types of endocrine tumors include Neuroendocrine tumors (NETs), Paragangliomas (PGLs), and Pheochromocytomas (PCCs).
Many risk factors contribute to endocrine tumors developing, including tobacco smoking, alcohol use, immune system suppression disorders, aging, and family history.
About 5% of people with an endocrine tumor may have an inherited risk due to a mutation in a gene. PGLs and PCCs have up to a 40% chance to be associated with hereditary risk.
Signs of Hereditary Endocrine Tumor Risk
Factors that may indicate a hereditary risk for endocrine tumors include a personal or family history of:
- More than one endocrine tumor occurrence in the same individual
- Multiple people on the same side of the family with the same or related types of endocrine tumors
- Hyperparathyroidism (over-active parathyroid), especially before age 50
- Rare tumors such as paragangliomas (PGLs) and pheochromocytomas (PCCs), especially when present in both adrenal glands
- Medullary thyroid cancer (MTC) and its precursor, C-cell hyperplasia. Of all thyroid cancer, only 1-2% is MTC.
- Neuroendocrine tumors (NETs) of the duodenum (first part of the small intestine) and pancreas called gastrinomas, non-functioning NETs, and insulinomas
- Certain physical features such as mucosal neuromas (benign growths around the mouth, tongue, or eyelids)
There may be other factors that can raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is inherited risk for endocrine tumors and/or cancer in your family can be important for your health and the health of your family members. Hereditary conditions that predispose to endocrine tumors are linked to higher risks for other forms of cancer as well.
For people with or without an endocrine tumor identified with hereditary risk, recommendations may include:
- Regular physical exams monitoring for signs and symptoms of possible tumors
- Specialized bloodwork and biochemical testing
- Regular targeted imaging that may include MRI, CT, and/or ultrasound depending on the hereditary condition
- Preventive removal of the thyroid for those at risk for medullary thyroid cancer (MTC)
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children. In addition, some of these hereditary conditions can affect screening and cancer prevention recommendations for children.
Hereditary Conditions and Genes Associated with Endocrine Tumors
There are many different genes associated with hereditary endocrine tumors. Our team will work with you to determine the best genetic test to order based on your personal and family history.
- Multiple endocrine neoplasia type I (MEN1): MEN1
- Multiple endocrine neoplasia type 2 (MEN2): RET
- Familial medullary thyroid carcinoma (FMTC): RET
- Multiple endocrine neoplasia type 4 (MEN4): CDKN1B
- Hereditary paraganglioma (PGL) / pheochromocytoma syndrome (PCC): SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, MDH2, MAX, K1F1B, TMEM127
- Carney Stratakis syndrome (CSS)
- Carney complex
- Carney triad
- Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC): FH
- Neurofibromatosis (NF1): NF1
- Von Hippel-Lindau syndrome (VHL): VHL
- Cowden syndrome (PTEN hamartoma syndrome): PTEN
- DICER1 syndrome: DICER1
Most kidney cancer (also called “renal cancer”) occurs by chance, or may be related to other risk factors such as aging, smoking, or a history of kidney disease. About 5% of people with kidney cancer have an inherited risk due to a mutation in a gene.
Signs of Hereditary Kidney Cancer Risk
Factors that may indicate a hereditary risk for kidney cancer include a personal or family history of:
- Kidney cancer diagnosed at age 46 or younger
- Someone having multiple kidney tumors, in the same kidney or on both kidneys
- Multiple close relatives diagnosed with kidney cancer (2 or more)
- Certain rare types of kidney cancer:
- For example: Succinate dehydrogenase (SDH)-deficient kidney cancer, fumarate hydratase (FH)-deficient kidney cancer, or chromophobe kidney cancer
- Other cancers or tumors that can be related, including brain tumors or cancers, tumors that affect hearing and/or vision, neuroendocrine tumors, cardiac tumors, melanomas, mesothelioma, and other skin cancers.
- Other benign (non-cancer) medical features, including uterine fibroids, lung cysts or collapsed lung, pancreatic or liver cysts, and characteristic skin findings.
There may be other factors that raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for kidney cancer in you or your family can be important for your health or the health of your family members. Hereditary conditions that predispose to kidney cancer may be linked to higher risks for other forms of cancer as well.
For People with Kidney Cancer
Genetic testing may influence treatment:
- Surgical options
- Targeted therapies or medicines for cancer treatment
For People with or without Kidney Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Regular kidney imaging (ultrasound or MRI)
- Screening and risk-reduction options for other types of related cancers, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Kidney Cancer
There are a number of different genes associated with hereditary kidney cancer risk. Our team will work with you to determine the best genetic test to order based on your personal and/or family history of cancer.
- Hereditary leiomyomatosis and renal cell cancer (HLRCC): FH
- MITF-associated cancer risk: MITF
- Von Hippel-Lindau syndrome: VHL
- Birt-Hogg-Dube (BHD) syndrome: FLCN
- BAP1 tumor predisposition syndrome: BAP1
- Hereditary papillary renal cancer: MET
- Hereditary paraganglioma-pheochromocytoma syndrome: SDHA, SDHB, SDHC, SDHD
- Tuberous sclerosis complex: TSC1, TSC2
- PTEN hamartoma tumor syndrome or Cowden syndrome: PTEN
- CHEK2-associated cancer risk: CHEK2
- Lynch syndrome or hereditary nonpolyposis colorectal cancer syndrome: MLH1, MSH2, MSH6, PMS2, EPCAM
- Li-Fraumeni syndrome: TP53
Prostate cancer is the most common type of cancer among individuals assigned male at birth in the United States. Prostate cancer is more common as men get older. Other risk factors include family history and race. Prostate cancer is more common in Black men than Asian or White men, and most cases are not caused by inherited genetic risks. About 5-15% of people with prostate cancer have an inherited risk due to a mutation in a gene.
Signs of Hereditary Prostate Cancer Risk
Factors that may indicate a hereditary risk for prostate cancer include a personal or family history of:
- Metastatic prostate cancer (cancer that has spread from the prostate to other parts of the body)
- High-risk or very-high-risk prostate cancer (classification determined by oncologists based on specific features of the cancer such as Gleason score, PSA level, and/or biopsy results)
- Prostate cancer diagnosed before age 55
- Other related cancers, including breast cancer, ovarian cancer, and pancreatic cancer
There may be other factors that can raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for prostate cancer in you or your family can be important for your health or the health of your family members. Hereditary conditions that predispose to prostate cancer may be linked to higher risks for other forms of cancer as well.
For People with Prostate Cancer
Genetic testing may influence treatment, including:
- Targeted therapies or medicines for cancer treatment
- Screening and risk-reduction for other types of cancer
For People with or without Prostate Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Earlier and more frequent screening for prostate cancer, including PSA blood tests, digital rectal exam (DRE), and/or prostate MRIs
- Screening and risk-reduction options for other types of cancer, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Prostate Cancer
There are many different genes associated with hereditary prostate cancer risk. Our team will work with you to determine the best genetic test to order based on your personal and/or family history of cancer.
Lung cancer has historically been linked to smoking and other environmental exposures, such as asbestos or air pollution. However, there is an increasing proportion of lung cancers developing in people who have never smoked and have no known exposures.
Some lung cancers may be linked to inherited risk. This may be particularly true in those who have never smoked, but also among smoking-related lung cancer. Up to 10% of people with lung cancer may have an inherited risk of cancer due to a gene mutation. More research is needed to better understand the link between inherited gene mutations and lung cancer risk.
Signs of Hereditary Lung Cancer Risk
Factors that may indicate a hereditary risk for lung cancer include a personal or family history of:
- Lung cancer diagnosed at age 50 or younger
- Multiple close relatives diagnosed with lung cancer or in several generations of family members
- Lung cancer in someone without any history of smoking or known exposures
- A mutation in the gene called EGFR (epidermal growth factor receptor)
- These mutations are more commonly found in the lung cancer cells only (somatic), but they can also be found throughout all the body’s cells (germline or hereditary)
- Having multiple separate lung cancers, in the same lung or on both lungs
- A diagnosis of lung cancer and another separate cancer in the same person
There may be other factors that raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine whether there may be significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for lung cancer in you or your family can be important for your health or the health of your family members. Hereditary conditions that predispose to lung cancer may be linked to higher risks for other forms of cancer as well.
For People with Lung Cancer
Genetic testing may influence treatment:
- Surgical options
- Targeted therapies or medicines for cancer treatment
For People with or without Lung Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- Regular chest CT scans
- Screening and risk-reduction options for other types of related cancers, or other non-cancer medical issues
Some people found to have hereditary risk for cancer are interested in using this information for family planning. This may include in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes Associated with Lung Cancer
There are several genes associated with hereditary lung cancer risk. Our team will work with you to determine the best genetic test to order based on your personal and/or family history of cancer.
- EGFR-associated cancer risk: EGFR
- Li-Fraumeni syndrome: TP53
Mesothelioma only:
- BAP1 tumor predisposition syndrome: BAP1
There may be other genes associated with increased lung cancer risk (ERBB2, BRCA1, BRCA2, ATM), but further research is needed.
Learn more about ongoing research studies:
Skin cancer is among the most common forms of cancer found in 20% of adults in the United States. Risk factors include sunburn, skin pigmentation, and family history. Skin cancer is divided into two main types: melanoma and non-melanoma skin cancer.
Non-melanoma skin cancer includes basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). Most BCC and SCC are related to sun exposure or sun damage.
Melanoma is less common. About 5-10% of people with melanoma have an inherited risk due to a gene mutation.
Signs of Hereditary Skin Cancer Risk
- Dysplastic moles, which are irregularly shaped, larger than normal, and vary in color
- Having more than 50 dysplastic moles
- Multiple instances of skin cancers, especially multiple melanomas
- Skin cancer occurring in areas not typically exposed to the sun, like the sole of the foot
- Melanoma of the eye (ocular melanoma)
- Skin cancer diagnosis in addition to other forms of cancer in the same individual
- Skin cancer diagnosis in close blood relatives on the same side of the family
- Thin, easily breakable fingernails along with multiple warts and/or whitish discoloration in the mouth (leukoplakia)
- Skin cancer diagnosed in childhood
There may be other factors that can raise or lower our suspicion for a hereditary risk for cancer. Our team can evaluate your personal and family history to determine if there is significant hereditary risk present. Genetic testing may help to find the source of hereditary risk.
Benefits of Genetic Testing
Knowing that there is an inherited risk for skin cancer in you or your family can be important for your health, or the health of your family members. Hereditary conditions that predispose to skin cancer may also be linked to higher risks for other forms of cancer.
For People with Skin Cancer
Genetic testing may influence treatment:
- Targeted therapies or medicines for cancer treatment
For People with or without Skin Cancer
Genetic testing can guide recommendations to reduce risk for cancer or detect cancer early, including:
- More frequent screening for skin cancer with a dermatologist
- Starting skin cancer screening at an earlier age
- Full body photography to monitor moles
- Careful sun protection
- Screening and risk-reduction options for other types of related cancers, or other non-cancer medical issues
Some people found to have hereditary risk for cancer may use this information for family planning, including in vitro fertilization (IVF) with preimplantation genetic testing to reduce the chance of passing along hereditary risk to children.
Hereditary Conditions and Genes by Skin Cancer Type
There are many different genes that can lead to hereditary skin cancer risk. Our team will work with you to determine the best genetic test based on your personal and/or family history of cancer.
Basal Cell Carcinoma
- Basal cell nevus syndrome (also called Gorlin syndrome): PTCH1, PTCH2, SUFU
Squamous Cell Carcinoma
- Rothmund-Thomson syndrome: RECQL4 (recessive)
- Bloom syndrome: BLM (recessive)
- Werner syndrome: WRN (recessive)
Melanoma
- Familial atypical multiple mole-melanoma syndrome: CDKN2A, CDK4
- MITF-associated melanoma: MITF
- Hereditary breast and ovarian cancer syndrome: BRCA1, BRCA2
- Li-Fraumeni syndrome: TP53
Multiple Types of Skin Cancer
- BAP1 tumor predisposition syndrome: BAP1
- Xeroderma Pigmentosa: XP
- Telomere Biology Disorders
While most cancers are sporadic due to a combination of chance, age, lifestyle, and environmental factors, about 5-10% have an inherited risk due to gene mutations. Our team evaluates personal and family history to identify significant hereditary risk.
We offer expertise in a variety of hereditary cancer conditions and types. In addition to common cancers, we assess hereditary risk for:
- Brain Tumors and Cancer
- Gastrointestinal Stromal Tumors (GIST)
- Sarcoma
- Small Bowel and other Gastrointestinal Cancers
- Pediatric Cancers
- Some childhood cancers have inherited risk, and cancer screening may start in childhood. Learn more about our Pediatric Cancer Genetic Risk Program.
Genetic testing may help find the source of hereditary risk and uncover increased risk for other cancers. This may be important information for your medical care or the care of your family members.
Dana-Farber's Cancer Genetics and Prevention Clinic includes specialty centers that provide personalized and comprehensive care for people with hereditary cancer conditions. These centers offer ongoing follow-up care by a multidisciplinary team of experts, supported by world-class research and state-of-the-art diagnostics.
This content is for information purposes only. While this page provides information on many conditions that we commonly see through the Center for Cancer Genetics and Prevention, there may be additional indications and genetic conditions not listed here that we are still able to evaluate in our program. If you have questions or would like to discuss your personal and/or family history of cancer further, please contact us to schedule a visit in our clinic.
The information on this page is not designed to and does not provide medical advice or professional diagnosis. Recommendations on management for your individual cancer risk should be discussed with a healthcare provider who has expertise in hereditary cancer conditions.
Information about hereditary cancer conditions changes rapidly as the field of cancer genetics advances and we learn more. The information on this page is updated periodically, and may not contain the most up-to-date, complete, or exhaustive information. For the most up-to-date and accurate information, please contact us to schedule a visit in our clinic.