Hereditary Cancers

About 5% to 12% of cancers are hereditary, meaning they are linked to an abnormal gene passed down from a parent.

Family History and Hereditary Cancers

Hereditary gene changes and cancer

Whilst most cancers are not linked to inherited gene changes, approximately 5% to 12% of cancers can be attributed to certain gene changes that are inherited from a parent.

How do I know if I have inherited a gene change?

We inherit our genes from our parents – 50% from our mother and 50% from our father.  If one of our parents carries a gene change, there is a 50% chance that we will have inherited the gene too.  Cancer is very common (around half of us will get it in our lifetime) but if there’s a strong family history of a specific type of cancer in your immediate family, especially diagnosed at a young age, then there may be an inherited gene change to blame.  If this is the case, you can ask your GP to arrange genetic testing to see if you have an inherited gene change.

What do I do if I have inherited a gene change?

If you do have an inherited gene change, this doesn’t necessarily mean you will definitely develop cancer, but it means you have an increased risk of developing some types of cancer, and at a younger age than most people.  If this is the case, then you can be closely monitored and take measures to reduce your risk such as medication, lifestyle changes or preventative surgery.

Click the button below to visit the Cancer Research UK website to find out more about family history and inherited cancers.

Inherited gene changes and types of cancer they cause

Most cancers are not linked to inherited gene mutations, and are caused by chance gene changes or an increased risk from environmental or lifestyle factors.  The following conditions are rare, but if you think you may have inherited any of these gene changes or have a strong family history of a particular cancer type then speak to your GP.

BRCA1 & BRCA2 Genes

Everyone has BRCA1 and BRCA2 (BReast CAncer) genes in their bodies, regardless of gender.  These genes stop cells from dividing out of control and are known as tumour suppressor genes.  A gene change in these genes means that cells can grow and divide in an uncontrolled way, which can cause cancer to develop.  Most people have only 1 in 400 chance of having BRCA1 gene changes or a 1 in 300 chance of having BRCA2 gene changes.  However, those of Ashkenazi Jewish ethnicity have a 1 in 40 chance of developing BRCA1 or BRCA2 gene changes.

What does it mean if I have BRCA1 or BRCA2 gene changes?

Breast cancer – 70% of women and 10% of men will develop breast cancer by age 80

Ovarian cancer – 45% of women with BRCA1 gene changes and 20% of women with BRCA2 gene changes will develop ovarian cancer by age 80

Prostate & pancreatic cancer – BRCA1 and BRCA2 gene changes increase your risk, but not as significantly as breast or ovarian cancer

Lynch Syndrome 

Lynch Syndrome (LS) is caused by changes to MLH1, MSH2, MSH6, PMS2 and EPCAM genes.  People with LS have a higher risk of developing bowel cancer, and at a younger age.  The risk depends on which gene is affected and also your gender.

70% of men with LS will develop bowel cancer

50% of women with LS will develop bowel cancer

People with LS also have increased risk of womb, ovarian, stomach, gallbladder, brain, prostate and urinary tract (eg bladder) cancers

Li-Fraumeni Syndrome 

Li-Fraumeni Syndrome (LFS) is caused by changes to TP53 gene.  This is a tumour suppressor gene that controls how and when cells divide, so changes to this gene can allow cells to grow out of control, and allow cancer to develop.

People with LFS have an increased risk of developing breast cancer.  Other cancers caused by LFS are bone cancer, acute myeloid leukaemia (AML), soft tissue sarcoma, brain tumours and cancer of the adrenal gland.

PTEN Hamartoma Tumour Syndrome 

PTEN Hamartoma Tumour Syndrome is caused by a mutation of the PTEN gene.  This syndrome includes Cowden Syndrome.  It causes people to have an increased risk of developing benign tumours and types of cancer including breast, thyroid, womb, bowel, kidney and melanoma skin cancer.

Familial Adenomatous Polyposis (FAP)

Familial adenomatous polyposis (FAP) is caused by a change in the APC gene, which allows hundreds or even thousands of non-cancerous polyps to grow in the bowel.  FAP is usually picked up at a young age (teens and twenties) and without treatment will almost certainly cause bowel cancer to develop by the age of 45.  People with FAP also have a higher risk of developing stomach, thyroid, small bowel (duodenal), pancreatic and liver cancers.  There is a milder form called attenuated familial adenomatous polyposis (AFAP) which causes fewer non-cancerous polyps to grow in the bowel.  People with AFAP have a 70% risk of developing bowel cancer and at a later age than those with classical FAP.

MUTYH Associated Polyposis (MAP)

MAP is caused by changes to the MUTYH gene.  People with MAP develop polyps in the large bowel, rectum and sometimes in the stomach and small bowel.  This increases your risk of developing bowel cancer at an early age (under the age of 60).  However, you have to have inherited a MUTYH gene change from both parents to be affected.  If you have only inherited a gene change from one parent, your risk of bowel cancer is not increased.

Peutz Jeghers Syndrome (PJS)

Caused by a change in the STK11 gene, signs of PJS often appear in childhood.  PJS presents as darker skin around the mouth, lips, fingers and toes and sometimes as freckles around and inside the mouth.

People with PJS have an increased risk of developing breast, bowel, pancreatic, stomach and ovarian cancers.

Juvenile Polyposis Syndrome (JPS)

Juvenile Polyposis syndrome (JPS) is caused by a change in either the BMPR1A or SMAD4 genes, causing polyps to develop in the colon and rectum and sometimes in the stomach and small intestine.

People with JPS have an increased risk of developing stomach, bowel, pancreatic and small bowel cancer.

PALB2 Gene 

PALB2 gene changes increase your risk of developing breast, pancreatic and ovarian cancer.  Around 45% of women with a PALB2 gene change will develop breast cancer by 80 years of age.

Von Hippel-Lindau Disease (VHL)

VHL can cause cancerous (malignant) and non-cancerous (benign) tumours to develop in different parts of the body.  It can also cause abnormal collections of blood vessels in the brain, spine and back of the eye.  This condition is rare, and most tumours that develop are benign.  However, there is an increased risk of developing pancreatic neuroendocrine tumours (pNETs) and renal cell carcinoma (a type of kidney cancer).

Tuberous Sclerosis (TS)

Tuberous sclerosis is caused by changes in the TSC1 and TSC2 genes.  This rare condition causes problems with the eyes, lungs, skin, brain, heart and kidneys.  There is also a slightly increased risk of developing renal cell carcinoma (a type of kidney cancer).

Birt-Hogg-Dube Syndrome (BHDS)

Caused by a faulty FLCN gene, BHDS causes multiple fibrofolliculomas (non-cancerous skin tumours) and cysts to develop on the scalp, face, neck and upper body.  Cysts can also grow in the lungs, causing pneumothorax (a collapsed lung).  This causes shortness of breath and chest pain, and is commonly the first symptom of BHDS in young adults.

People with BHDS have an increased risk of some types of kidney cancer, and possibly bowel cancer (although this needs more research to confirm).

Multiple Endocrine Neoplasia (MEN) type 1 and 2

MEN1 – causes tumours (either cancerous or non-cancerous) to develop in the pancrease, parathyroid gland and pituitary gland.  They sometimes develop in the adrenal glands, small bowel, stomach, thymus and lungs, but this is less common.

MEN2 – caused by a change in the RET gene, most people with MEN2 develop medullary thyroid cancer.  There’s also an increased risk of developing tumours in the adrenal glands and parathyroid gland.

RB1 Gene

Changes to the RB1 gene can cause an increased risk of developing retinoblastoma (a rare type of eye cancer), particularly in children under the age of 5.  It can affect one or both eyes.

Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM)

People with FAMMM tend to have a large number of moles, or unusual moles.  They have an increased risk of developing melanoma (skin cancer) and will have at least one close relative with a melanoma diagnosis.  FAMMM can also increase your risk of developing pancreatic cancer.

Hereditary Kidney Cancer Syndromes

Hereditary Papillary Renal Cell Carcinoma (HPRC) is caused by a change in the MET gene and usually causes more than one cancerous tumour in both kidneys.

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), also known as Fumarate Hydratase Tumor Predisposition Syndrome (FHTPS) is caused by a change in the FH gene and causes kidney cancer and also cutaneous leiomyomata (benign skin tumours) and uterine leiomyomata (fybroids in the womb).

CHEK2 Gene

CHEK2 is a gene that repairs DNA.  People with a change in the CHEK2 gene have a 25% – 30% chance of developing breast cancer in their lifetime, and an increased risk of developing prostate, kidney, thyroid and bowel cancer.  

Supporting Organisations for Hereditary Cancers

Charities and support organisations are a great resource to help support you or your loved ones on your cancer journey.  They can offer information and support in a variety of ways, practical, physical, emotional and financial.  Some offer helplines, with access to medically-trained staff, and others fund research into finding a cure or better treatment for cancer.  Please see below some charities and other organisations that offer help.

BRCA+ Chat

BRCA+ Chat

We are a UK charity that supports anyone navigating a gene alteration predisposing them to cancer (BRCA, LFS (TP53), PALB2, ATM, CHEK2, lynch…). Whether you are considering testing, already been tested, diagnosed with cancer, or someone wanting to help your family or...

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UK Cancer Genetics Group

UK Cancer Genetics Group

The UK Cancer Genetics Group (UKCGG) is a Specialist Interest Group of the British Society of Genetic Medicine (BSGM). UKCGG is a national, multidisciplinary organisation with membership including clinicians, counsellors and scientists with an interest in the...

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The National Hereditary Breast Cancer Helpline

The National Hereditary Breast Cancer Helpline

Welcome to the home of the Hereditary Breast Cancer Helpline We hope you will find useful information here to help your journey. Most breast cancer occurs by chance, however in some families an alteration in a gene can give rise to a hugely increased risk. It is...

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Lynch Syndrome UK

Lynch Syndrome UK

Lynch Syndrome UK aims to ensure that for the public benefit, people and their families affected by Lynch Syndrome are provided with support in the form of information, signposting, and listening, also to increase public awareness of the syndrome, educating members of...

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