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EN Family history
Overview
Every single cell in your body is a structure called the nucleus. The nucleus is the control centre of the cell. Inside the nucleus are 23 pairs of chromosomes made up of genes. Genes are coded messages that tell cells how to behave. They control how our bodies grow and develop. We each have about 25,000 genes. All cancers develop because something has gone wrong with one or more of the genes in a cell. A change in a gene is called a mutation or fault. These mutations can make a cell stop working properly. It may then become cancerous then divide and grow uncontrollably. Most gene changes happen during our lifetime but some can be inherited from a parent.
Some mutation genes that increase the risk of cancer can be passed on from parent to child. These are inherited cancer gene mutations. They occur when there is a mutation in the genes of an egg or sperm cell at the time of conception. These mutations in the initial sperm or egg cell are copied into every single cell in the body. The faulty genes can then pass from generation to generation. They are called germline mutations.We inherit genes from both our parents. If a parent has a gene mutation, then each child has a 1 in 2 chance (50%) of inheriting it. So, some children will have the faulty gene and an increased risk of developing cancer and some children won’t. Being born with inherited faulty genes doesn’t mean that a person will definitely get cancer. But they have a higher risk of developing particular types of cancer than other people. They are also more likely to develop cancer at a younger age.
Most people who have relatives with cancer will not have inherited a faulty gene. Cancer mostly occurs in older people. It is a common disease. Having a couple of relatives diagnosed with cancer doesn’t mean there is a cancer gene fault running in the family. In families with an inherited faulty gene, there is usually a pattern of specific types of cancer running in the family. The strength of family history depends on:
1) Who in your family has had cancer
2) The types of cancer they have had
3) How old they were at diagnosis
4) How closely related the relatives with cancer are to each other
The more relatives who have had the same or related types of cancer, and the younger they were at diagnosis, the stronger someone’s family history is. This means that it is more likely that the cancers are being caused by an inherited faulty gene.
Inherited genes and cancer types
Most cancers are not linked to inherited faulty genes . Only few cancers diagnosed are linked to an inherited faulty gene. It’s important that most cancers develop because of a combination of chance and our environment, not because we have inherited a cancer gene fault.
1) BRCA1 and BRCA2 genesEveryone has BRCA1 and BRCA2 genes. BRCA stands for BReast CAncer gene. They are important genes that stop the cells in our body from growing and dividing out of control. It was called tumour suppressor genes. A mutation in the BRCA1 or BRCA2 gene means that the cells can grow out of control. Both men and women can have a faulty BRCA1 or BRCA2 genes. People who inherit faulty versions of these genes have an increased risk of developing different types of cancers which includes breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer.
- Breast cancer, Around 70% women with a faulty BRCA1 or BRCA2 gene will develop breast cancer by the age of 80 and 10% men with a faulty BRCA2 will develop breast cancer.
- Ovarian cancer, Almost 45% with a faulty BRCA1 gene will develop ovarian cancer by the age of 80 and almost 20% with a faulty BRCA2 gene.
- Prostate and Pancreatic cancer, Faulty BRCA1 and BRCA2 genes can also increase the risk of developing prostate and pancreatic cancer.
2) Lynch syndromeLynch syndrome is also called hereditary non polyposis colon cancer .It is caused by faults of MLH1, MSH2, MSH6 and PMS2 genes. People with Lynch syndrome have an increased risk of developing bowel cancer. Up to 70% with Lynch syndrome will develop bowel cancer. Most people will develop bowel cancer before the age of 50.
Lynch syndrome can also increase the risk of developing other types of cancers. This includes womb cancer, ovarian cancer, stomach cancer , gallbladder cancer, prostate cancer and bladder cancer.
3) Li-Fraumeni syndrome (LFS)
Li-Fraumeni syndrome is caused by a fault in the TP53 gene. The TP53 gene controls when a cell divides. It is called a tumour suppressor gene. People with Li-Fraumeni syndrome have an increased risk of developing a number of cancers. This includes breast cancer, bone cancer, acute myeloid leukaemia (AML), soft tissue sarcoma, brain tumours, adrenal gland cancer.
4) PTEN Hamartoma tumour syndromeThis syndrome includes Cowden syndrome. It is caused by a fault in the PTEN gene. This syndrome increases your risk of developing benign tumours and different types of cancers. This includes breast cancer, thyroid cancer, womb cancer, bowel cancer, kidney cancer, skin cancer (melanoma)
5) Familial adenomatous polyposis (FAP)
FAP is caused by a fault in the APC gene. It is around 1% bowel cancers diagnosed. A faulty APC gene can cause hundreds of non cancerous (benign) growths called polyps to develop in the bowel at a young age. If left untreated, people will almost certainly develop bowel cancer by their 40s. People with FAP also have an increased risk of developing stomach cancer, pancreatic cancer and liver cancer.
6) MYH-associated polyposis (MAP)
MAP is caused by faults in the MYH gene. To have MAP, a person needs to have 2 faulty copies of the MYH gene, 1 from each parent. People with MAP develop polyps and are likely to develop bowel cancer under the age of 60. People with MAP may have increased risk of developing ovarian cancer, bladder cancer, breast cancer and womb cancer.
7) Peutz Jeghers syndrome (PJS)
Peutz Jeghers syndrome is caused by a fault in the STK11 gene. 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 and ovarian cancer.
8) 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.
9) PALB2 gene
Faults in the PALB2 gene increase the risk of developing breast cancer. Up to 50% with a faulty PALB2 gene will develop breast cancer by the age of 70.
10) 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) and renal cell carcinoma
11) 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.
12) 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.
13) 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 medullary thyroid cancer. People with MEN2 also have an increased risk of developing adrenal gland tumours.
14) 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.
15) 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.
16) Hereditary papillary cancerHereditary papillary cancer is linked with a high risk of developing kidney cancer. This includes hereditary papillary renal cell carcinoma (HPRCC) and 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 and kidney cancer.