Hereditary cancer syndromes
Many hereditary disorders are associated with an increased risk of cancer because of an inherited gene mutation. These disorders are called inherited or hereditary cancer syndromes. Although hereditary cancer syndromes are relatively rare, they can cause cancer in both children and adults. When cancer occurs in people with hereditary cancer syndromes, it is often at a younger age than usual.
Some hereditary disorders are more likely to occur among people with a particular ancestry. People in the same ethnic group often share certain changes in their genes, which have been passed down from common ancestors.
The table below gives examples of some hereditary cancer syndromes, the types of cancers associated with them and the mutated genes responsible for them.
| Syndrome | Main types of cancer | Gene |
|---|---|---|
ataxia-telangiectasiaataxia-telangiectasiaA rare genetic disease that affects the nervous system, immune system and other body systems. Signs and symptoms include loss of balance, poor coordination, frequent infections, red eyes (due to widening of blood vessels) and abnormal eye movements. | leukemia, lymphoma, breast, stomach (gastric), colon, pancreatic, brain, ovarian, liver (hepatocellular carcinoma), thyroid, skin cancer | ATM |
basal cell nevus syndrome (also called nevoid basal cell carcinoma syndrome or Gorlin syndrome) | basal cell skin, medulloblastoma, ovarian, sarcoma | PTCH |
Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndromeA rare genetic condition that affects how different parts of the body grow. Signs include large body size, large tongue, large organs, a defect in the abdominal wall and low blood sugar in newborns. | Wilms tumour, hepatoblastoma, neuroblastoma, rhabdomyosarcoma, adrenal | WT2 |
Bloom syndrome | leukemia, lymphoma, breast, cervical, colon, stomach, laryngeal, Wilms tumour, non-melanoma skin cancer | BLM |
Cowden syndromeCowden syndromeA genetic condition in which many non-cancerous (benign) growths (hamartomas) form in the skin, breast, thyroid, colon, intestines and inside the mouth. | breast, uterine (endometrial), colorectal, thyroid | PTEN |
colorectal, thyroid, stomach, small intestine, hepatoblastoma | APC | |
hereditary breast and ovarian cancer (HBOC) | early-onset breast or ovarian, male breast, prostate, pancreatic, Fallopian tube | BRCA1 BRCA2 |
hereditary diffuse gastric cancer (HDGC) | stomach | CDH1 |
hereditary melanoma (also called familial atypical multiple mole melanoma syndrome or FAMMM) | melanoma skin cancer, intraocular melanoma, pancreatic | CDKN2A CDK4 |
hereditary retinoblastoma | eye (retinoblastoma) | RB1 |
juvenile polyposis syndrome (JPS) | colorectal, stomach, small intestine, pancreatic | SMAD4 BMPR1A |
Li-Fraumeni syndromeLi-Fraumeni syndromeA rare genetic condition that is associated with an increased risk of developing certain types of cancers, including breast cancer, brain tumours, acute leukemia, soft tissue and bone sarcomas and adrenal cortical carcinomas. | leukemia, sarcomas (bone and soft tissue), breast, brain, adrenal, stomach, lung, leukemia, lymphoma | TP53 |
Lynch syndrome (also called hereditary non-polyposis colorectal cancer, or HNPCC) | colorectal, stomach, uterine (endometrial), ovarian, biliary tract, small intestine, kidney, pancreatic | MLH1 MSH2 MSH6 PMS2 |
multiple endocrine neoplasia (MEN)multiple endocrine neoplasia (MEN)A rare genetic condition that is associated with tumours in more than one endocrine gland and an increased risk of developing endocrine system cancers. type 1 | parathyroid, pituitary, adrenal, pancreatic, ovarian, neuroendocrine tumours | MEN1 |
multiple endocrine neoplasia (MEN) type 2 | medullary thyroid, adrenal | MEN2 RET |
MYH-associated polyposis (MAP) | colorectal | MUTYH (also called MYH) |
neurofibromatosis type 1 (also called von Recklinghausen disease) and neurofibromatosis type 2 | brain, malignant peripheral nerve sheath tumours, neuroblastoma, breast, leukemia, small intestine, adrenal, neuroendocrine tumours | NF1 NF2 |
Peutz-Jeghers syndromePeutz-Jeghers syndromeA genetic condition that causes dark spots on the mouth and fingers and polyps in the large and small intestine. | breast, pancreatic, ovarian, colorectal, small intestine, stomach, lung, cervical | STK11 |
von Hippel-Lindau syndrome (VHL)von Hippel-Lindau syndrome (VHL)A rare genetic condition that affects blood vessels in the eyes, brain, spinal cord, adrenal glands or other parts of the body, making them grow abnormally. | kidney (renal cell cancer), adrenal, brain, pancreatic | VHL |
WAGR syndrome Denys-Drash syndrome | Wilms tumour | WT1 |
xeroderma pigmentosum (XP) | skin (melanoma and non-melanoma), oral, adrenal | XP |
Many other hereditary or genetic conditions that are associated with cancer have not been listed here. For more information on, go to the Genetics Home Reference and the Familial Cancer Database.