hereditary

A saliva test sold directly to the public that looks for a short list of known BRCA1 and BRCA2 changes. A negative result does not rule out an inherited BRCA change, because most such changes are not on the list.

A saliva test sold directly to the public that looks for two common changes in the MUTYH gene, which in two copies cause an inherited bowel polyp condition. A negative result does not rule out other MUTYH changes.

A saliva test sold directly to the public that looks for one change in the HOXB13 gene, which raises a man's risk of prostate cancer. A negative result does not rule out other inherited prostate cancer risk.

Ataxia-telangiectasia is a rare inherited condition, caused by two faulty copies of the ATM gene, that affects balance and movement, the immune system and the lungs, and raises the risk of lymphoma and leukaemia in childhood and of breast and other cancers later. Cancer treatment has to be adapted because people with it are very sensitive to radiotherapy and some chemotherapy.

Beckwith-Wiedemann syndrome is an overgrowth condition, caused by changes in a region of chromosome 11, that raises the risk of childhood kidney and liver tumours. Most children are offered a tummy ultrasound every three months until their seventh birthday so that any tumour is found small.

Birt-Hogg-Dubé syndrome is an inherited condition, caused by a fault in the FLCN gene, that causes small skin bumps, lung cysts that can collapse a lung, and a raised risk of kidney cancer. Kidney scans every one to two years from age 20 are recommended to find kidney tumours early.

Bloom syndrome is a rare inherited condition, caused by two faulty copies of the BLM gene, that causes small stature, a sun-sensitive facial rash and a high risk of many cancers from childhood. Colonoscopy from age 10 to 12, sun protection and care at a specialist centre are recommended, and cancer treatment has to be adapted.

A blood test from Ambry Genetics for 13 genes linked to inherited breast cancer, including BRCA1, BRCA2, PALB2 and TP53.

Ambry Genetics' multi-gene blood tests for inherited cancer risk: CancerNext covers 41 genes and CancerNext-Expanded 90, ordered through a clinician.

Carney complex is a rare inherited condition that causes spotty pigmentation of the skin and lining of the mouth, heart tumours called myxomas, and tumours of the hormone glands, skin and nerves. Children with it are offered regular checks under recommendations updated in 2025.

Color Health's test of 29 genes linked to inherited breast, ovarian, bowel, stomach, pancreatic, prostate and skin cancer risk.

Constitutional mismatch repair deficiency is a rare inherited condition in which a child has two faulty copies of a DNA spell-checking gene, one from each parent, and develops brain, blood and bowel cancers from early childhood. Six-monthly brain scans and early bowel checks find tumours sooner, and these cancers often respond to immunotherapy.

An inherited fault in the DDX41 gene is the commonest known inherited cause of myelodysplastic syndrome and acute myeloid leukaemia, and it usually shows itself in older adults rather than children. Finding it matters for treatment and for choosing a family stem cell donor.

Dyskeratosis congenita and the related telomere biology disorders are inherited conditions in which the protective ends of chromosomes are too short, causing bone marrow failure and a raised risk of leukaemia and of mouth and throat cancers. Regular blood counts, marrow checks and yearly mouth and throat examinations from age ten are recommended.

Natera's blood test for inherited cancer risk, offered as fixed gene panels or a gene list the clinician builds.

Familial melanoma is melanoma that runs in families, most often because of a fault in the CDKN2A gene, which also raises the risk of pancreatic cancer. People who carry it are offered skin checks every three to six months and, from age 40, regular pancreas scans.

Fanconi anaemia is a rare inherited condition in which DNA repair fails, so the bone marrow usually stops working in childhood and the risk of leukaemia and of mouth and throat cancers is very high. Regular blood and marrow checks guide the timing of a stem cell transplant, and mouth checks start at age ten.

Foundation Medicine's tests of inherited cancer genes from blood or saliva, which can be ordered alongside its tumour profiling: 50 genes, or 154 in the expanded version.

Gastric adenocarcinoma and proximal polyposis of the stomach is a rare inherited condition, caused by a change in the control region of the APC gene, that fills the upper stomach with polyps and raises the risk of stomach cancer rather than bowel cancer. Stomach checks start at 15, and removing the stomach is considered by 30 to 35.

Some people are born with a gene change that raises their risk of myelodysplastic syndrome or acute myeloid leukaemia, through genes such as DDX41, RUNX1, GATA2 and CEBPA or bone marrow failure conditions. Testing matters because it changes surveillance, treatment and which relative can safely donate stem cells.

Helix's test of 70 genes linked to inherited cancer risk, registered with the US genetic testing registry in 2026.

About 5-10% of cancers arise from an inherited gene fault. Recognising the syndromes (BRCA, Lynch, Li-Fraumeni, VHL, MEN, FAP, retinoblastoma and dozens more) changes screening, surgery and treatment for the patient and their relatives.

Hereditary diffuse gastric cancer is an inherited condition, usually caused by a fault in the CDH1 gene, that carries a high risk of a type of stomach cancer that spreads through the stomach wall and of lobular breast cancer. Removing the whole stomach before cancer develops is the recommended option, and expert endoscopy checks can be offered to people who want to delay surgery.

Hereditary papillary renal cell carcinoma is a rare inherited condition, caused by an activating change in the MET gene, that carries a very high lifetime risk of papillary kidney cancer. It is managed by kidney specialists with experience of inherited kidney cancer.

A small share of children with acute lymphoblastic leukaemia were born with a gene change, in genes such as PAX5, ETV6 or IKZF1, that raised their risk. Finding it guides follow-up, testing of brothers and sisters, and the choice of a family stem cell donor.

A blood test of 47 genes, authorised by the US regulator and ordered by a clinician, that finds inherited changes which raise cancer risk or explain a cancer already diagnosed.

Invitae's broad blood test for inherited cancer risk across many cancer types, now sold under Labcorp.

Juvenile polyposis syndrome is an inherited condition, often caused by a fault in SMAD4 or BMPR1A, that causes many non-cancerous polyps in the stomach and bowel and raises the risk of bowel and stomach cancer. Regular endoscopy from the teenage years removes the polyps before they bleed or turn into cancer.

Li-Fraumeni syndrome is an inherited fault in the TP53 gene giving a lifetime cancer risk near 100% in women and ~75% in men, with sarcomas, breast cancer, brain tumours, adrenal cancer and leukaemias often in childhood. Whole-body MRI surveillance saves lives.

The MEN syndromes are inherited faults in a single gene that cause tumours in several hormone glands over a lifetime. Because the gene can be found in childhood, at-risk relatives can be tested, watched and in MEN2 have the thyroid removed before cancer develops; and for MEN2 thyroid cancer that does spread there is now a precise pill, selpercatinib, that blocks the faulty RET protein.

MUTYH-associated polyposis is an inherited bowel condition in which a person has two faulty copies of the MUTYH gene, one from each parent, and develops many bowel polyps and a high risk of bowel cancer. Yearly colonoscopy from about 18 to 20, or surgery to remove the bowel, is recommended to prevent these cancers.

Myriad's multi-gene blood test for inherited cancer risk, covering 63 genes including BRCA1, BRCA2 and the Lynch syndrome genes, ordered through a clinician.

Neurofibromatosis type 1 is an inherited condition, affecting about one in 2,000 to 2,500 babies, that causes nerve tumours called neurofibromas and raises the risk of some cancers. Regular check-ups find problems early, and two tablets now shrink the large plexiform neurofibromas that cannot be removed by surgery.

NTHL1-associated polyposis is a rare inherited condition in which a person has two faulty copies of the NTHL1 gene and develops many bowel polyps, bowel cancer and, in women, womb cancer. Care is planned at a specialist centre because there are too few patients for a fixed schedule.

Peutz-Jeghers syndrome is an inherited condition, caused by a fault in the STK11 gene, that causes freckling of the lips and mouth and polyps in the bowel from childhood, and raises the risk of several cancers in adult life. Checks of the gut start at about eight years old, and removing large polyps prevents the bowel from telescoping into itself.

Polymerase proofreading-associated polyposis is a rare inherited condition, caused by a fault in the proofreading part of the POLE or POLD1 gene, that causes bowel polyps and early bowel cancer, and womb cancer with POLD1. Care is planned at a specialist centre because there are too few patients for a fixed schedule.

Quest Diagnostics' test of 66 genes linked to inherited cancer risk, ordered through a clinician.

An eye cancer of infants caused by loss of the RB1 gene, the first tumour-suppressor gene ever found. In rich countries almost every child survives and most eyes are saved by chemotherapy delivered through the eye's artery; in low-income countries, where most cases occur, survival depends on finding it early, and that is the global gap.

Rothmund-Thomson syndrome is a rare inherited condition with a distinctive skin rash called poikiloderma, and its type 2 form, caused by faults in RECQL4, carries a high risk of bone cancer in childhood. Families are taught the signs of bone cancer, and a baseline skeletal survey is done by age five.

This is an inherited fault in the RUNX1 gene that causes a low or poorly working platelet count and a lifetime risk of leukaemia estimated at 30 to 40 percent. Regular blood and marrow checks watch for change, and relatives are tested before anyone in the family donates stem cells.

Serrated polyposis syndrome means having many serrated polyps in the bowel, a type that can turn into cancer, and it raises bowel cancer risk for the person and their close relatives. Clearing the polyps and then yearly colonoscopy is recommended, and close relatives are offered a colonoscopy at 40.

Shwachman-Diamond syndrome is a rare inherited condition, usually caused by two faulty copies of the SBDS gene, that affects the pancreas, bones and bone marrow and raises the risk of myelodysplastic syndrome and leukaemia. Blood counts every three to four months and yearly marrow checks look for changes that would make a stem cell transplant the right step.

Tuberous sclerosis complex is an inherited condition, caused by a fault in TSC1 or TSC2, that grows non-cancerous tumours in the brain, kidneys, heart and skin and raises the risk of kidney cancer. Regular brain and kidney scans guide treatment, and tablets called mTOR inhibitors shrink several of these tumours.

Von Hippel-Lindau disease is an inherited condition causing kidney cancers, adrenal tumours, and blood-vessel tumours of the brain, spine, eye and pancreas from early adulthood. It taught us how cells sense oxygen and gave rise to the drug belzutifan, the first medicine for VHL tumours.

X-linked lymphoproliferative disease is a rare inherited immune deficiency, mainly in boys, caused by a fault in the SH2D1A gene, in which the glandular fever virus can trigger a life-threatening overreaction of the immune system or lymphoma. A stem cell transplant is the treatment that changes its course.