ABGC Cancer Conditions 2026

Familial Adenomatous Polyposis Syndrome (FAP) - Cancers and Risk

Colorectal (100%), Duodenal (10%), Gastric (5%), Thyroid (2%), Pancreas (2%), Liver (2%), CNS (medulloblastoma, 1%)

Attenuated Familial Adenomatous Polyposis Syndrome (AFAP) - Cancers and Risk

Colorectal (70%), Duodenal (

Turcot Syndrome - Definition

Colorectal Cancer that presents with 100+ Colorectal polyps and CNS tumors. Type 1: Lynch-associated; Type 2: FAP-associated

Gardener Syndrome - Definition

FAP that presents with 100+ Colorectal polyps and connective/soft (desmoid)/bone (osteomas) tissue tumors

Muir-Torre Syndrome - Definition

Lynch Syndrome that presents with Colorectal Cancer and sebaceous adenomas/carcinomas (oil gland growths)

Familial Adenomatous Polyposis Syndrome (FAP) - Unique Features

Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE), Dental Abns. (extra/missing teeth),

Left Sided CRC, >100 colon adenomatous polyps

Attenuated Familial Adenomatous Polyposis Syndrome (AFAP) - Unique Features

Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE), Dental Abns. (extra/missing teeth),

Right Sided CRC, 10-99 colon adenomatous polyps

Familial Adenomatous Polyposis Syndrome (FAP) - Genetics and Inheritance

AD; APC

Attenuated Familial Adenomatous Polyposis Syndrome (AFAP) - Genetics and Inheritance

AD: APC (usually 5' or 3' end variants)

Familial Adenomatous Polyposis Syndrome (FAP) - Onset and Progression

Adolescent Onset, 40y lifespan

Attenuated Familial Adenomatous Polyposis Syndrome (AFAP) - Onset and Progression

50y onset, normal life expectancy

Familial Adenomatous Polyposis Syndrome (FAP) - Treatment

Resection (removal) of polyps >5mm, Most likely colectomy and removal of part of the colon as preventative measures, Gastrectomy in event of severe gastric involvement; Chemo/Radiation for desmoid tumors.

Attenuated Familial Adenomatous Polyposis Syndrome (AFAP) - Treatment

Resection (removal) of polyps >5mm, Less likely colectomy and removal of part of the colon as preventative measures, Gastrectomy in event of severe gastric involvement; Chemo/Radiation for desmoid tumors.

MUTYH-Associated Polyposis (MAP) - Cancers and Risks

Colorectal (90%), Ovarian (10%), Bladder (20% for men, 10% for women), Duodenal (4%)

MUTYH-Associated Polyposis (MAP) - Unique Features

Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE), Dental Abns. (extra/missing teeth),

Left Sided CRC, 10-99 colon adenomatous polyps

MUTYH-Associated Polyposis (MAP) - Genetics and Inheritance

AR; MUTYH (carriers have moderate risk for cancers)

MUTYH-Associated Polyposis (MAP) - Onset and Progression

30y onset; normal lifespan

MUTYH-Associated Polyposis (MAP) - Treatment

Resection (removal) of polyps, Likely colectomy and removal of part of the colon as preventative measures

Adenomatous Polyposis Syndromes

FAP, AFAP, MAP

Hamartomatous Polyposis Syndromes

Juvenile Polyposis Syndrome, Peutz-Jegher Syndrome, Cowden Syndrome

Juvenile Polyposis Syndrome - Cancers and Risk

Colorectal (50%), Gastric (10-80%), Pancreatic (

Juvenile Polyposis Syndrome - Unique Features

4 to hundreds of Hamartomatous Polyps; rectal bleeding; also presents with Hereditary Hemorrhagic Telangiectasia (red spots made up on tiny capillaries (AVM's) on fingers/nose/lips/GI) (HHT) in individuals with SMAD4 variants

Juvenile Polyposis Syndrome - Genetics and Inheritance

AD; BMPR1A and SMAD4, 45% unknown

Juvenile Polyposis Syndrome - Onset and Progression

20y Onset; normal lifespan

Juvenile Polyposis Syndrome - Treatment

Resection (removal) of polyps, Less likely colectomy and removal of part of the colon as preventative measures, standard treatment for HHT

Cowden Syndrome - Cancers and Risks

Breast (85%), Endometrial/Uterine (25%), Liver (RCC, 20%) Thyroid (20%), Renal (15%), Colorectal (10%)

Cowden Syndrome - Unique Features

Macrocephaly, Mouth warts (trichilemmomas/papules), Multinodal Goiter, CNS involvement +seizures +Autism, >50 GI hamartomatous polyps

Cowden Syndrome - Genetics and Inheritance

AD; PTEN

Cowden Syndrome - Onset and Progression

20-30y onset (macrocephaly at birth or childhood); normal lifespan

Cowden Syndrome - Treatment

Multidisciplinary Care; Double mastectomy and TAH-SPO recommended; Resection (removal) of hamartomatous polyps; Standard care for cutaneous lesions

Peutz-Jeghers Syndrome - Cancers and Risks

Breast (45%), Colorectal (40%), Gastric (30%), Pancreatic (25%), Ovarian (20%), Lung (10%), Cervical (10%), Endometrial (10%), Testicular (10%)

Peutz-Jeghers Syndrome - Unique Features

Mucocutaneous pigmentation (hyperpigmented lips/eyes/nostrils/fingers that fade with time), 2 or more hamartomatous polyps in the GI tract

Peutz-Jeghers Syndrome - Genetics and Inheritance

AD; STK11

Peutz-Jeghers Syndrome - Onset and Progression

Childhood; Reduced lifespan due to 93% cummulative cancer risk

Peutz-Jeghers Syndrome - Treatment

Endoscopy/Enteroscopy of GI for removal of hamartomatous polyps in GI, Double mastectomy and TAH-SPO not recommended, standard surveillance for other cancers

Lynch Syndrome - Cancers and Risks

Colorectal (80%, higher in males), Endometrial/Uterine (60%), Ovarian (40%), Genitourinary (Kidney/Bladder/Ureter, 15%), Gastric (10%), Pancreatic (5%), CNS (glioblastomas, 2%)

Lynch Syndrome - Autosomal Recessive Considerations

AR biallelic mutations in the same gene = Constitutional Mismatch Repair Deficiency (CMMRD)

Constitutional Mismatch Repair Deficiency (CMMRD) - Cancers and Risks

CNS (glioblastomas and medulloblastomas, 70%), Hematologic (Leukemia and Non-Hodgkin Lymphoma, 40%), Colorectal (40%)

Constitutional Mismatch Repair Deficiency (CMMRD) - Unique Features

Cafe-au-Lait macules, hypopigmentation patches

Constitutional Mismatch Repair Deficiency (CMMRD) - Genetics and Inheritance

AR; MSH2, MSH6, PMS2, MLH1, EPCAM (must inherit biallelic pathogenic variants of the same gene)

Constitutional Mismatch Repair Deficiency (CMMRD) - Onset and Progression

Childhood onset; 20y avg. lifespan

Constitutional Mismatch Repair Deficiency (CMMRD) - Treatment

Immunotherapy very effective; Brain MRI's and Colonoscopies/Endoscopies

Lynch Syndrome - Unique Features

Right sided non-polyposis adenomas

Lynch Syndrome - Genetics and Inheritance

AD; MSH2, EPCAM, MSH6, MLH1, PMS2

Lynch Syndrome - Onset and Progression

40y onset; normal lifespan

Lynch Syndrome - Treatment

Frequent colonoscopies; TAH-SPO recommended, no need for colectomy

BRCA1 Hereditary Breast and Ovarian Cancer - Cancers and Risks

Breast (80%), Ovarian (40%), Prostate (20%), Male Breast (5%), Pancreatic (3%)

BRCA2 Hereditary Breast and Ovarian Cancer - Cancers and Risks

Breast (60%), Ovarian (20%), Prostate (60%), Pancreatic (7%), Male Breast (7%)

BRCA1 Hereditary Breast and Ovarian Cancer - Genetics and Inheritance

AD; BRCA1

BRCA1 Hereditary Breast and Ovarian Cancer - Autosomal Recessive Considerations

AR biallelic mutations in the same gene = Fanconi Anemia Type S

BRCA2 Hereditary Breast and Ovarian Cancer - Autosomal Recessive Considerations

AR biallelic mutations in the same gene = Fanconi Anemia Type D1

BRCA2 Hereditary Breast and Ovarian Cancer - Genetics and Inheritance

AD; BRCA2

BRCA1 Hereditary Breast and Ovarian Cancer - Onset and Progression

30-40y onset; normal lifespan

BRCA2 Hereditary Breast and Ovarian Cancer - Onset and Progression

50-60y onset; normal lifespan

BRCA1 Hereditary Breast and Ovarian Cancer - Treatment

Double Mastectomy and TAH-SPO recommended 35-40y

BRCA2 Hereditary Breast and Ovarian Cancer - Treatment

Double Mastectomy and TAH-SPO recommended 40-45y, Pancreatic and early Prostate screening recommended

Hereditary Diffuse Gastric Cancer - Cancers and Risks

Stomach (70%, higher for women), Breast (50%)

BRCA1 Hereditary Breast and Ovarian Cancer - Unique Features

Invasive ductal carcinoma, often triple negative breast cancer

BRCA2 Hereditary Breast and Ovarian Cancer - Unique Features

Invasive ductal carcinoma, hormone receptor-positive breast cancer, HER2 negative

Hereditary Diffuse Gastric Cancer - Unique Features

Lobular breast cancer, leather bottle stomach, signet ring adenocarcinoma

Hereditary Diffuse Gastric Cancer - Genetics and Inheritance

AD; CDH1

Hereditary Diffuse Gastric Cancer - Onset and Progression

Wide onset, avg. 30-40y onset, typical lifespan

Hereditary Diffuse Gastric Cancer - Treatment

Gastrectomy recommended, Early Mammogram, Double Mastectomy recommended

Li Fraumeni Syndrome - Cancers and Risks

4 Core: Breast (60%), Sarcoma (10-20%), Adrenocortical (10%), CNS (15%) (ABC'S); Many Others but NOT OVARIAN.

Li Fraumeni Syndrome - Unique Features

Multiple primary tumors, radiation treatment sensitivity

Li Fraumeni Syndrome - Genetics and Inheritance

AD; TP53

Li Fraumeni Syndrome - Onset and Progression

Early onset cancers, 20y avg. onset, can have average lifespan

Li Fraumeni Syndrome - Treatment

AVOID RADIATION; Bilateral mastectomy recommended, increased colonoscopy screening, annual whole body MRI

PALB2-Related Cancer Predisposition - Cancers and Risks

Breast (40%), Pancreatic (3%)

PALB2-Related Cancer Predisposition - Autosomal Recessive Considerations

AR biallelic mutations in the same gene = Fanconi Anemia Type N

PALB2-Related Cancer Predisposition - Genetics and Inheritance

AD; PALB2

PALB2-Related Cancer Predisposition - Onset and Progression

45-55y avg. onset, no lifespan impact

PALB2-Related Cancer Predisposition - Treatment

Double Mastectomy discussed as an option

CHEK2-Related Cancer Predisposition - Cancers and Risks

Breast (25%), Prostate (20%)

CHEK2-Related Cancer Predisposition - Genetics and Inheritance

AD; CHEK2

CHEK2-Related Cancer Predisposition - Onset and Progression

45-46y avg. onset, no lifespan impact

CHEK2-Related Cancer Predisposition - Treatment

Increased Surveillance Only, Moderate Risk Gene

Von Hippel Lindau Syndrome (VHL) - Cancers and Risks

Renal (Clear Cell RCC, 40%)

Von Hippel Lindau Syndrome (VHL) - Unique Features

Benign Tumors: Hemangioblastomas of the Cerebellum (ataxia), Retina (vision loss), and Spinal Cord (sensorimotor loss +pain), Paragangliomas along the Spine and Pheochromocytomas of the Adrenal Glands (Hypertension), and Endolympatic Sac Tumors in the ears (balance/hearing issues); Multiple Cysts: Kidneys, Liver, Pancreas

Von Hippel Lindau Syndrome (VHL) - Genetics and Inheritance

AD; VHL

Von Hippel Lindau Syndrome (VHL) - Onset and Progression

25y avg. onset; 50-60y lifespan

Von Hippel Lindau Syndrome (VHL) - Treatment

Resection of turmors, CNS MRI's, Eye and Ear exams starting in childhood. Avoid Smoking.

SDH Paraganglioma-Pheochromocytoma Syndromes - Cancers and Risks

Renal (eosinophilic (pink) renal cell carcinoma, 15%)

SDH Paraganglioma-Pheochromocytoma Syndromes - Unique Features

Benign Tumors: Paragangliomas along the Spine (usually neck) and Pheochromocytomas of the Adrenal Glands (Hypertension), and Gastrointestinal Stromal Tumors (GIST's)

SDH Paraganglioma-Pheochromocytoma Syndromes - Genetics and Inheritance

AD; Main 4: SDHA, SDHB (higher risk for RCC), SDHC, SDHD (when inherited paternally)

SDH Paraganglioma-Pheochromocytoma Syndromes - Onset and Progression

30-40y avg. onset; SDHB has lower lifespan, rest are typical lifespan

SDH Paraganglioma-Pheochromocytoma Syndromes - Treatment

Resection of tumors. MRI's start in childhood. Urine and Plasma Metanephrines for screening. Avoid smoking.

Multiple Endocrine Neoplasia Type 2 (MEN2) - Cancers and Risks

Thyroid (medullary (MCT), 100%)

Multiple Endocrine Neoplasia Type 2 (MEN2) - Unique Features

3 types: A: Pheochromocytomas of the Adrenal Glands (Hypertension), Parathyroid adenoma/hyperplasia; B: Pheochromocytomas of the Adrenal Glands (Hypertension), Distinctive Facies, Galgioneuromatosis of GI, Marfanoid Habitus; Familial Medullary Thyroid Carcinoma (FMTC): 2+ Fam w/ MTC, No Pheo or Para's; Can present with Hirschsprung Disease (GI innervation issues)

Multiple Endocrine Neoplasia Type 2 (MEN2) - Genetics and Inheritance

AD; RET

Multiple Endocrine Neoplasia Type 2 (MEN2) - Onset and Progression

A: 38y avg.; B: Infancy onset; FMTC: Later onset; B has 25y avg. lifespan, rest can have normal lifespan

Multiple Endocrine Neoplasia Type 2 (MEN2) - Treatment

Biochemical Screening. MTC: Calcitonin, Pheo: Urine Catecholamines, Parathyroid: Calcium and PTH. Surgical removal of glands (thyroidectomy).

Multiple Endocrine Neoplasia Type 1 (MEN1) - Cancers and Risk

Parathyroid (80%), Pituitary (50%), Pancreatic/Duodenal (NET's like Gastrinomas and Insulinomas, 80%) (PPP)

Multiple Endocrine Neoplasia Type 1 (MEN1) - Unique Features

20 different tumor types. Need to know includes Pheochromocytomas (adrenal gland tumors). Symptoms: Hyperparathyroid hypercalcemia leads to lethargy, nausea, kidney stones; Pituitary tumors lead to sex hormone dysfunction; Gastrinomas lead to death; Insulinomas lead to hypoglycemia; Glucagonomas lead to hyperglycemia

Multiple Endocrine Neoplasia Type 1 (MEN1) - Genetics and Inheritance

AD; MEN1

Multiple Endocrine Neoplasia Type 1 (MEN1) - Onset and Progression

40y onset; only slightly reduced lifespan on 70y now

Multiple Endocrine Neoplasia Type 1 (MEN1) - Treatment

Biochemical Screening: Prolactin (for Pituitary), Calcium (for parathyroid), Gastrin (for gastrinomas), PTH considered (for Parathyroid)

CDKN2A Cancer Predisposition (FAMMM) - Cancers and Risks

Melanoma (Dysplastic Nevi, 70%), Pancreatic (15%)

CDKN2A Cancer Predisposition (FAMMM) - Genetics and Inheritance

AD; CDKN2A

CDKN2A Cancer Predisposition (FAMMM) - Onset and Progression

30-40y; No change to lifespan (risk factor)