Table 10. Hereditary cancer and the associated genes for which high risk variants have been identified (the list is not exhaustive).
| Primary organ affected | Syndrome, further information | Gene symbol | Estimated frequency within the cancer type |
|---|---|---|---|
| Bowel (fourth most common in U.K., 41804 in 2015) | Familial adenomatous polypsis | APC | 1% of bowel cancer |
| MYH associated polyposis | MYH | Rare | |
| Lynch syndrome (also increased risk of other cancers, see below) | MLH1, MSH2, MSH6, PMS2 | 3% of bowel cancer | |
| Peutz Jeghers syndrome (also increased risk of other cancers) | STK11 | Very rare | |
| Juvenile Polyposis Syndrome | BMPR1A, SMAD4 | Unknown | |
| Breast (most common cancer in women, approximately 12.5%, 55122 in 2015) | BRCA1, BRCA1, TP53, PTEN, PALB2 | 5–10% of breast cancers are associated with the inheritance of high risk variants | |
| Kidney (seventh most common in U.K.) | VHL syndrome | VHL | 2–4% of kidney cancer |
| Tuberous sclerosis | TSC1, TSC2 | ||
| Birt Hogg Dube syndrome | FLCN | ||
| Isolated hereditary papillary renal cell cancer | MET | ||
| Hereditary leiomyomatosis and renal carcinoma | FH | ||
| Melanocyte/skin (melanoma: approximately 15400/year) | Familial melanoma | CDKN2A and unknown | Approximately 10% of melanoma |
| Ovary (approximately 2% women) | BRCA1, BRCA2 | 5–15% of ovarian cancer | |
| Lynch syndrome | (as above) | ||
| Pancreas (1.4% people) | Unknown or as part of several other syndromes | Approximately 10% of pancreatic cancer | |
| Prostate (approximately 12.5% men, 47151 in 2015) | BRCA2 (MLH1, MSH2, MSH6) | ||
| Retina (approximately 45 children/year) | Familial retinoblastoma | RB | Approximately 40% of retinoblastoma |
| Thyroid (approximately 3400/year) | Medullary thyroid cancer (3–10% of thyroid cancer) | Unknown | Approximately 25% of medullary thyroid cancer |
| Uterus (approximately 2% women) | Unknown | ||
| Lynch syndrome | (as above) | ||
| Cowden syndrome | PTEN |
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.