Cancer is a multifactorial disease with genetic, environment and lifestyle factors all playing roles. While most cancers are caused by gene faults that happen during an individual’s lifetime, some people have an increased risk of particular types of cancer because they have inherited a faulty gene.
Knowledge of cancer genetics is rapidly improving and is helping identify people in high risk groups, tailor treatment to the individual and supporting the development of new treatments. This growing knowledge and expertise has significant implication for cancer management across the spectrum of prevention, screening and treatment.
Family history can often be the first step in identifying people with high of very high lifetime risk of developing cancer. Genetic testing is now used, in many areas, to identify the specific variant that cause of this increased inherited risk and helps determine whether family members have inherited the disease related variant.
Recognising and identifying individuals and families is of central importance in beginning this journey. Once identified, these people can then be supported by an expert service that includes genetic testing, genetic counselling risk assessment and the development of a management plan.
| Inherited Genes and Cancer Types | |
| BRCA1 and BRCA2 Genes | Everyone has BRCA1 and BRCA2 genes. BRCA stands for BReast CAncer gene. They are import genes that stop cells in our body from growing and dividing out of control. Doctors call these tumour suppressor genes. Faulty BRCA1 and BRCA2 genes are rare. Only 1 in every 400 people have a faulty BRCA1 or BRCA2 gene. Both men and women can have faulty BRCA! Or BRCA2 genes. People who inherit faulty versions of these genes have an increased risk of developing different types of cancer including: Breast Cancer. Ovarian Cancer: Prostate Cancer:Pancreatic Cancer: |
| Lynch Syndrome | Lynch Syndrome is also called hereditary non-polyposis colon cancer (HNPCC) and is caused by the faults in the following genes: MLH1.MSH1.MSH6.PMS2. People with Lynch Syndrome have an increased risk of developing bowel cancer. Up to 70% of people with Lynch Syndrome will develop bowel cancer, with most developing it before the age of 50. Lynch Syndrome can also increase your risk of developing other types of cancer including: Stomach cancer.Gallbladder cancer.Prostate cancer. Cancer of the urinary tract e.g. bladder cancer. |
| Li-Fraumeni Syndrome | Li-Fraumeni Syndrome is caused by a fault in the TP53 gene, which controls when cells divide. It is called a tumour suppressor gene. People with Li-Fraumeni Syndrome have an increased risk of developing a number of cancers includ Womb cancer. Breast cancer.Bone cancer.Acute Myeloid Leukaemia (AML).Soft Tissue Sarcoma.Brain tumours.Cancer of the adrenal gland. |
| PTEN Hamartoma Tumour Syndrome | This syndrome includes Cowden Syndrome and is caused by a fault in the PTEN gene. This syndrome increases your risk of developing benign tumours and different types of cancers, including: Breast cancer.Thyroid cancer.Womb cancer.Bowel cancer.Kidney cancer.Melanoma. |
| Familial Adenomatous Polyposis (PAP) | FAP is caused by a fault in the APC gene. It is a rare disease that is linked to around 1% of bowel cancers. A faulty APC gene can cause many non-cancerous (benign) growths called polyps to develop in the bowel at a young age. If left untreated, people have a very high risk of developing bowel cancer by their 40s. People with FAP also have an increased risk of developing: Stomach cancer.Pancreatic cancer.Liver cancer. |
| Peutz Jeghers Syndrome (PJS) | Peutz Jeghers Syndrome is caused by a fault in the STK11gene. Some signs of PJS can appear during childhood. It includes darker skin around the mouth, lips, fingers and toes. People with PJS have an increased risk of developing: breast cancer bowel cancer pancreatic cancer stomach cancer ovarian cancer |
| Juvenile Polyposis Syndrome (JPS) | JPS is linked to the BMPR1A and SMAD4 genes. A fault in one of these genes can cause polyps in the stomach and small bowel. Juvenile is the name of the type of polyp and is not related to the age at which the polyps develop. People with JPS have an increased risk of developing stomach and bowel cancer. |
| PALB2 gene | Faults in the PALB2 gene increase the risk of developing breast cancer. Up to 50 in every 100 women (up to 50%) with a faulty PALB2 gene will develop breast cancer by the age of 70. |
| Von Hippel Lindau syndrome (VHL) | VHL is a rare inherited condition caused by a change in the von Hippel-Lindau gene. It can affect different parts of the body. People who have this condition have an increased risk of developing: Pancreatic Neuroendocrine Tumours (pNETs). Renal cell carcinoma |
| Tuberous sclerosis (TS) | Tuberous sclerosis is a rare condition caused by faults in the TSC1 and TSC2 genes. It can cause skin, brain, heart and kidney problems. Researchers think that people with TS also have an increased risk of developing renal cell carcinoma. Renal cell carcinoma is a type of kidney cancer. |
| Birt-Hogg-Dube syndrome (BHDS) | Birt-Hogg-Dube syndrome is caused by faults in the FLCN gene. People with BHDS often develop multiple benign skin tumours (fibrofolliculomas) on the face, neck and upper body. They also have an increased risk of developing kidney cancer. Researchers think that BHDS may also increase your risk of bowel and breast cancer. But they need more research to find out for sure. |
| Multiple endocrine neoplasia (MEN) type 1 and 2 | MEN is a rare inherited condition in which tumours develop in different parts of the body. There are 2 types, MEN1 and MEN2. People with MEN1 usually develop tumours in the pancreas, parathyroid gland and pituitary gland. Tumours can also develop in the: Bowel. Stomach. Adrenal glands The tumours can be non-cancerous (benign) or cancerous (malignant). MEN2 is caused by a fault in the RET gene. MEN2 can cause a type of thyroid cancer called medullary thyroid cancer. People with MEN2 also have an increased risk of developing adrenal gland tumours. |
| RB1 gene | A fault in the RB1 gene can increase the risk of developing a rare type of eye cancer called retinoblastoma. Retinoblastoma most commonly affects children under the age of 5. It can affect one or both eyes. |
| Familial atypical multiple mole melanoma syndrome (FAMMM) | FAMMM is a syndrome that increases your risk of developing melanoma skin cancer. People with FAMMM tend to have large numbers of moles or moles that are unusual. They also have at least one close relative with a diagnosis of melanoma. A close relative is a parent, brother or sister, or child. Scientists think that FAMMM is linked to a fault in the CDKN2A gene. It may also increase your risk of developing pancreatic cancer. But doctors need more research to find out for sure. |
| Hereditary papillary cancer | Hereditary papillary cancer is linked with a high risk of developing kidney cancer, including: hereditary papillary renal cell carcinoma (HPRCC). hereditary leiomyomatosis and renal cell cancer (HLRCC) HPRCC is caused by faults in the MET gene. People with HPRCC usually have more than one tumour in both kidneys. HLRCC is caused by faults in the FH gene and it causes: benign skin tumours called cutaneous leiomyomata. fibroids in the womb or uterine leiomyomata kidney cancer |
Understanding if an individual is at increased risk of developing cancer can have important management implications and may lead to specific interventions aimed at reducing risk. It can also support the individual in making lifestyle, healthcare and other related decisions.