Table 10 Hereditary cancer and the associated genes for which high risk variants have been identified (the list is not exhaustive)
Primary organ affectedSyndrome, further informationGene symbolEstimated frequency within the cancer type
Bowel (fourth most common in U.K., 41804 in 2015)Familial adenomatous polypsisAPC1% of bowel cancer
MYH associated polyposisMYHRare
Lynch syndrome (also increased risk of other cancers, see below)MLH1, MSH2, MSH6, PMS23% of bowel cancer
Peutz Jeghers syndrome (also increased risk of other cancers)STK11Very rare
Juvenile Polyposis SyndromeBMPR1A, SMAD4Unknown
Breast (most common cancer in women, approximately 12.5%, 55122 in 2015)BRCA1, BRCA1, TP53, PTEN, PALB25–10% of breast cancers are associated with the inheritance of high risk variants
Kidney (seventh most common in U.K.)VHL syndromeVHL2–4% of kidney cancer
Tuberous sclerosisTSC1, TSC2
Birt Hogg Dube syndromeFLCN
Isolated hereditary papillary renal cell cancerMET
Hereditary leiomyomatosis and renal carcinomaFH
Melanocyte/skin (melanoma: approximately 15400/year)Familial melanomaCDKN2A and unknownApproximately 10% of melanoma
Ovary (approximately 2% women)BRCA1, BRCA25–15% of ovarian cancer
Lynch syndrome(as above)
Pancreas (1.4% people)Unknown or as part of several other syndromesApproximately 10% of pancreatic cancer
Prostate (approximately 12.5% men, 47151 in 2015)BRCA2 (MLH1, MSH2, MSH6)
Retina (approximately 45 children/year)Familial retinoblastomaRBApproximately 40% of retinoblastoma
Thyroid (approximately 3400/year)Medullary thyroid cancer (3–10% of thyroid cancer)UnknownApproximately 25% of medullary thyroid cancer
Uterus (approximately 2% women)Unknown
Lynch syndrome(as above)
Cowden syndromePTEN
  • The population frequency % given under organ affected, indicates the proportion of individuals in the U.K. that are likely to develop this cancer at some point in their life. Numbers indicate new cases diagnosed in the U.K. Statistics were derived from the Cancer Research UK website.