# Hereditary cancer syndromes

Source: https://onco.cc/terms/hereditary-cancer-syndromes/  
OnCo record `hereditary-cancer-syndromes` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

The main syndromes: hereditary breast-ovarian (BRCA1/2, PALB2), Lynch (MLH1/MSH2/MSH6/PMS2/EPCAM; colorectal, endometrial, urothelial and more), Li-Fraumeni (TP53; sarcoma, breast, brain, adrenocortical, leukaemia; whole-body MRI surveillance halves cancer mortality), familial adenomatous polyposis (APC), von Hippel-Lindau (VHL; RCC, phaeochromocytoma, haemangioblastoma; belzutifan approved 2021), MEN1/MEN2 (RET; medullary thyroid), hereditary retinoblastoma (RB1), Peutz-Jeghers, Cowden (PTEN), hereditary diffuse gastric cancer (CDH1), hereditary paraganglioma (SDHx), DICER1, and moderate-penetrance genes (CHEK2, ATM). Practice: germline multigene panel testing is now recommended for all patients with ovarian, pancreatic, metastatic prostate, male breast, and many breast and colorectal cancers (NCCN), with cascade testing of relatives; risk-reducing surgery (mastectomy, salpingo-oophorectomy, colectomy, thyroidectomy), intensified surveillance (MRI, colonoscopy), chemoprevention (aspirin in Lynch, CAPP2), and therapy selection (PARP inhibitors, immunotherapy for Lynch tumours, belzutifan in VHL). Population-based BRCA/Lynch screening and polygenic risk scores are the frontier.

## Fields

- Kind: Term
- Last checked: 2026-09-08
- Also known as: hereditary cancer; hereditary cancers; hereditary cancer syndrome; inherited cancer; inherited cancer syndrome; inherited risk; cancer predisposition; cancer susceptibility; familial cancer
- Tags: gap-fill; hereditary

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Hereditary_cancer_syndrome
- NCCN Genetic/Familial High-Risk Assessment: https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503
- NCI Cancer Genetics Overview (PDQ): https://www.cancer.gov/about-cancer/causes-prevention/genetics/overview-pdq

## Connected records

- targets: [BRCA1 / BRCA2 (HRD)](https://onco.cc/targets/brca/), [POLD1](https://onco.cc/targets/pold1/)
- terms: [BAP1 loss](https://onco.cc/terms/bap1-loss/), [CAPS: the Cancer of the Pancreas Screening consortium and its surveillance studies (CAPS1 to CAPS5)](https://onco.cc/terms/caps-consortium-pancreatic-screening/), [CDKN2A/B homozygous deletion](https://onco.cc/terms/cdkn2a-homozygous-deletion/), [Colectomy](https://onco.cc/terms/colectomy/), [Early detection](https://onco.cc/terms/early-detection-term/), [Founder variant](https://onco.cc/terms/founder-variant/), [Germline BRCA mutation (gBRCA)](https://onco.cc/terms/gbrca-mutation/), [Germline vs somatic mutations](https://onco.cc/terms/germline-vs-somatic/), [Inherited syndromes that cause skin cancer: Gorlin syndrome and xeroderma pigmentosum](https://onco.cc/terms/inherited-skin-cancer-syndromes/), [Li-Fraumeni syndrome (germline TP53)](https://onco.cc/terms/li-fraumeni/), [Lynch syndrome](https://onco.cc/terms/lynch-syndrome/), [MEN1 and hereditary neuroendocrine syndromes](https://onco.cc/terms/men1-hereditary-net/), [MLH1 promoter methylation (sporadic versus Lynch mismatch repair loss)](https://onco.cc/terms/mlh1-promoter-methylation/), [PRETEXT and CHIC risk groups (hepatoblastoma)](https://onco.cc/terms/pretext-chic/), [PTEN loss](https://onco.cc/terms/pten-loss/), [Risk factor](https://onco.cc/terms/risk-factor/), [SDH deficiency (SDHB immunohistochemistry loss)](https://onco.cc/terms/sdh-deficiency/), [Somatic mutation theory of cancer](https://onco.cc/terms/somatic-mutation-theory/), [Tumour suppressor gene](https://onco.cc/terms/tumour-suppressor-gene/), [Variant of uncertain significance (VUS)](https://onco.cc/terms/vus/), [Von Hippel-Lindau disease](https://onco.cc/terms/vhl-disease/), [Wilms tumour risk markers (anaplasia, 1p/16q loss, 1q gain, SIOP and COG risk groups)](https://onco.cc/terms/wilms-risk-markers/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/), [Risk-reducing and opportunistic salpingectomy](https://onco.cc/technologies/risk-reducing-salpingectomy/), [Whole-body MRI](https://onco.cc/technologies/whole-body-mri/)
- cancers: [Adrenocortical carcinoma](https://onco.cc/cancers/adrenocortical/), [Ampullary cancer (ampulla of Vater)](https://onco.cc/cancers/ampullary/), [Atypical teratoid/rhabdoid tumour (ATRT)](https://onco.cc/cancers/atrt/), [Childhood lung and airway tumours (pleuropulmonary blastoma, tracheobronchial tumours)](https://onco.cc/cancers/pleuropulmonary-blastoma/), [Colorectal cancer](https://onco.cc/cancers/colorectal/), [Fumarate hydratase-deficient renal cell carcinoma (HLRCC-associated)](https://onco.cc/cancers/fh-deficient-renal-cell-carcinoma/), [Hereditary pheochromocytoma and paraganglioma (SDHx, VHL, RET, NF1, MAX and TMEM127)](https://onco.cc/cancers/hereditary-ppgl/), [Hyperparathyroidism-jaw tumour syndrome (CDC73-related parathyroid carcinoma)](https://onco.cc/cancers/hyperparathyroidism-jaw-tumour-syndrome/), [Localised small bowel adenocarcinoma (stage I to III, resected)](https://onco.cc/cancers/localised-small-bowel-adenocarcinoma/), [Male breast cancer](https://onco.cc/cancers/male-breast-cancer/), [Multiple endocrine neoplasia syndromes (MEN1, MEN2, MEN4)](https://onco.cc/cancers/multiple-endocrine-neoplasia/), [Multiple endocrine neoplasia type 1 (MEN1)](https://onco.cc/cancers/men1-syndrome/), [Multiple endocrine neoplasia type 2 (MEN2A and MEN2B)](https://onco.cc/cancers/men2-syndrome/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/), [Parathyroid carcinoma](https://onco.cc/cancers/parathyroid-carcinoma/), [Pheochromocytoma and paraganglioma (PPGL)](https://onco.cc/cancers/pheochromocytoma-paraganglioma/), [Rare cancers of childhood (NCI PDQ umbrella)](https://onco.cc/cancers/rare-childhood-cancers/), [Retinoblastoma](https://onco.cc/cancers/retinoblastoma/), [Small intestine cancer (small bowel adenocarcinoma)](https://onco.cc/cancers/small-bowel/), [Succinate dehydrogenase-deficient renal cell carcinoma](https://onco.cc/cancers/sdh-deficient-renal-cell-carcinoma/)
- journals: [Familial cancer](https://onco.cc/journals/familial-cancer/)
- key papers: [Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer](https://onco.cc/key-papers/paper-hu-germline-mutations-pancreatic-cancer-risk-jama-2018/), [Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas](https://onco.cc/key-papers/paper-palles-germline-pole-pold1-proofreading-nat-genet-2013/), [Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1](https://onco.cc/key-papers/paper-ligtenberg-epcam-deletion-msh2-silencing-nat-genet-2009/), [Identification of Lynch syndrome among patients with colorectal cancer](https://onco.cc/key-papers/paper-moreira-lynch-syndrome-identification-jama-2012/), [Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium](https://onco.cc/key-papers/paper-caps-consortium-surveillance-recommendations-gut-2020/), [Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer](https://onco.cc/key-papers/paper-roberts-familial-pancreatic-whole-genome-cancer-discov-2016/)
- people: [Angelina Jolie](https://onco.cc/people/angelina-jolie/), [Gilda Radner](https://onco.cc/people/gilda-radner/), [Jon M. Huntsman Sr.](https://onco.cc/people/jon-huntsman/), [Mary-Claire King](https://onco.cc/people/mary-claire-king/)
- institutions: [A.C. Camargo Cancer Center](https://onco.cc/institutions/ac-camargo/), [Hospital de Clínicas de Porto Alegre](https://onco.cc/institutions/hcpa-porto-alegre/)
- pathways: [Double-strand break repair: HR versus end joining](https://onco.cc/pathways/homologous-recombination-repair/), [Drivers, passengers & the two-hit model](https://onco.cc/pathways/oncogene-activation-two-hit/)
- collections: [FORCE: Facing Our Risk of Cancer Empowered](https://onco.cc/collections/force-facing-our-risk/), [NHS Jewish BRCA Testing Programme](https://onco.cc/collections/nhs-jewish-brca-testing/), [Sharsheret](https://onco.cc/collections/sharsheret/)

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