Gene
APC I1307K
Component Cancers/Tumors
Colon Cancer
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Download Clinical Guide
Genetics and Hereditary Cancers
Hereditary Cancer Syndromes
New Patient Appointment or 214-645-2563
Hereditary cancer syndromes are diseases caused by gene mutations that can be passed from parent to child, thus increasing the child’s risk of developing cancer.
Certain signs are commonly associated with hereditary cancers, although having these signs does not mean a particular family has a hereditary cancer syndrome. UT Southwestern Medical Center genetic counselors can help families understand the signs of hereditary cancer in their family and look more closely at their family history for additional clues.
Some signs of hereditary cancer in a family are:
- Having a cancer diagnosed at an unusually young age
- Having multiple close relatives with the same type of cancer
- Being or having a family member of Ashkenazi Jewish ancestry (Eastern or Central European descent) and having either breast or ovarian cancer
- Having or having a family member with a rare cancer such as a sarcoma, male breast cancer, medullary thyroid cancer, or a pheochromocytoma
- Having a family history with a combination of breast and ovarian cancers or colon and uterine cancers
- Having more than 20 colon polyps
- Having had or having a family member with multiple kinds of cancer
If one person in a family has already had positive genetic testing, it is important for other relatives to be tested. Usually, single-site testing (to look only for the mutation already identified in a relative) is performed to see if other relatives have inherited the same mutation. This test will clarify the cancer risks for other relatives and determine if more screening or risk-reducing surgery should be considered. However, it is important to do a complete risk assessment to rule out the need for genetic testing beyond the known mutation.
Hereditary Cancer Syndromes and Gene-Associated Cancers
See below for detailed information about specific hereditary cancer syndromes and gene-associated cancers.
APC I1307K Mutation
ATM-Associated Cancers
Gene
ATM
Component Cancers/Tumors
Breast, pancreatic (heterozygous carriers or one mutation)
Non-Hodgkin lymphoma, leukemia, central nervous system (CNS) cancers, gastric cancer, uterine cancer, basal cell carcinoma (BCC), ovarian dysgerminomas (autosomal recessive ataxia telangiectasia)
Cancer/Tumor Associations with Limited Evidence
Prostate (heterozygous carriers or one mutation)
Other Features
Ataxia Telangiectasia (autosomal recessive or two mutations) associated with early-onset ataxia, oculocutaneous telangiectasia, oculomotor apraxia, immunodeficiency
Download Fact Sheet
Download Clinical Guide
AXIN2-Associated Cancers
Gene
AXIN2
Component Cancers/Tumors
Colon polyps, colorectal cancer
Other Features
Missing teeth, sparse body hair and eyebrows
Download Fact Sheet
Download Clinical Guide
BAP1-Associated Cancers
Gene
BAP1
Component Cancers/Tumors
Uveal melanoma, malignant mesothelioma, cutaneous melanoma, renal cell carcinoma
Other Features
Non-cancerous skin lesions
Download Fact Sheet
Download Clinical Guide
BARD1-Associated Cancers
Gene
BARD1
Component Cancers/Tumors
Breast cancer
Cancer/Tumor Associations with Limited Evidence
Ovarian
Download Fact Sheet
Download Clinical Guide
Birt Hogg Dubé Syndrome (FLCN mutations)
Gene
FLCN
Component Cancers/Tumors
Renal cell carcinomas (chromophobe, clear cell, papillary), renal tumors (oncocytomas, oncocytic hybrid tumors)
Cancer/Tumor Associations with Limited Evidence
Lipomas, collagenomas, colon polyps
Other Features
Primary spontaneous pneumothorax, pulmonary cysts, skin manifestations (perifollicular fibromas, fibrofolliculomas, trichodiscomas, acrochordons)
Download Fact Sheet
Download Clinical Guide
BRIP1-Associated Cancers
Gene
BRIP1
Component Cancers/Tumors
Ovarian cancer
Cancer/Tumor Associations with Limited Evidence
Breast cancer
Download Fact Sheet
Download Clinical Guide
CDC73-Associated Cancers
Gene
CDC73
Related Conditions
Familial isolated hyperparathyroidism (FIHP), parathyroid carcinoma, and hyperparathyroidism-jaw tumor (HPT-JT) syndrome
Download Clinical Guide
CHEK2-Associated Cancers
Gene
CHEK2
Component Cancers/Tumors
Breast (bilateral), colon, and prostate
Cancer/Tumor Associations with Limited Evidence
Ovarian, thyroid, and renal cancers
Download Fact Sheet
Download Clinical Guide
Constitutional Mismatch Repair Deficiency (MLH1, MSH2, MSH6, PMS2, EPCAM biallelic mutations)
Gene
MLH1/MSH2/MSH6/PMS2/EPCAM (biallelic mutations or two mutations in the same gene)
Component Cancers
Colon, stomach, small intestine, leukemia, lymphoma, and brain tumors
Other Features
Café au lait spots
Download Fact Sheets
Download Clinical Guides
Cowden Syndrome (PTEN mutations)
Gene
PTEN
Component Cancers
Breast, endometrial (uterine), thyroid (follicular and papillary), colon, melanoma, clear cell renal cell carcinomas, Lhermitte-Duclos disease (LDD), gastrointestinal (GI) hamartomas, lipomas, fibromas, thyroid adenomas and goiters
Other Features
Skin findings (trichilemmomas, cutaneous and/or oral mucosal papillomatosis, acral keratoses, palmoplantar keratoses), macrocephaly (large head circumference of greater than 97th percentile), intellectual disability (IQ of 75 or under), fibrocystic breast disease, uterine fibroids
Download Fact Sheet
Download Clinical Guide
DICER1-Associated Cancers
Gene
DICER1
Component Cancers/Tumors
Pleuropulmonary blastoma (PPB), cystic nephroma (CN), ovarian Sertoli-Leydig cell tumors (SLCT)
Download Fact Sheet
Download Clinical Guide
Familial Adenomatous Polyposis (APC mutations)
Gene
APC
Component Cancers/Tumors
Colorectal, small bowel (ampulla of Vater), gastric, pancreatic, bile duct, non-medullary thyroid, hepatoblastoma, and CNS tumors; adenomatous polyps of the GI tract; fundic gland polyps in the stomach; desmoid tumors; jaw osteomas; adrenal adenomas; lipomas; juvenile nasopharangeal angiofibromas
Other Features
Congenital hypertrophe of the retinal pigment epithelium (CHRPE), supernumerary or absent teeth, dentigerous cysts, sebaceous or epidermoid cysts
Download Fact Sheets
Download Clinical Guide
Familial Atypical Mole and Malignant Melanoma (CDKN2A/CDK4 mutations)
Gene
CDKN2A (p16)/CDK4
Component Cancers/Tumors
Melanoma, dysplastic nevi, pancreatic cancer, astrocytoma
Cancer/Tumor Associations with Limited evidence
Breast cancer, head and neck squamous cell carcinomas (SCC)
Download Fact Sheet
Download Clinical Guide
Fanconia Anemia (FA)
Gene
One of 16 genes
Component Cancers/Tumors
Cancers of the blood, head and neck, skin, gastrointestinal (GI), and gynecologic system
Other Features
Increased risks of bone marrow failure (aplastic anemia), physical abnormalities
Download Fact Sheet
Gorlin Syndrome/Nevoid Basal Cell Carcinoma Syndrome (PTCH1 and SUFU mutations)
Genew
PTCH, SUFU
Component Cancers/Tumors
Basal cell carcinomas (BCC), meningiomas, primitive neuroectodermal tumor (PNET), jaw keratocysts, sebaceous and dermoid cysts, cardiac fibromas, fetal rhabdomyomas, ovarian fibromas
Cancer/Tumor Associations with Limited Evidence
Ovarian fibrosarcomas
Other Features
Ectopic calcification of the falx cerebri, palmar/plantar pits, congenital skeletal anomalies, larger head circumference (greater than 97th percentile), cleft lip and/or palate, polydactyly (extra digits), eye anomalies (cataracts, coloboma, microphthalmia)
Download Fact Sheet
Download Clinical Guide
GREM1-Associated Cancers
Gene
GREM1
Component Cancers/Tumors
Colorectal cancer and polyps
Download Fact Sheet
Hereditary Breast and Ovarian Cancer Syndrome (BRCA1 and BRCA2 mutations)
Gene
BRCA1/BRCA2
Component Cancers/Tumors
Breast, ovarian, prostate, male breast, pancreatic, melanoma
Cancers/Tumors Associations with Limited Evidence
Colon, gastric, gallbladder, bile duct, and endometrial
Download Fact Sheets
Download Clinical Guide
Hereditary Diffuse Gastric Cancer (CDH1 mutations)
Gene
CDH1
Component Cancers/Tumors
Diffuse gastric cancer, lobular breast cancer
Cancers/Tumors Associations with Limited Evidence
Ductal breast cancer, signet ring colon cancer, islet cell pancreatic cancer
Download Fact Sheets
Download Clinical Guide
Hereditary Leiomyomatosis and Renal Cell Cancer (FH mutations)
Gene
FH
Component Cancers/Tumors
Renal cell carcinoma (type II papillary), uterine leiomyosarcoma, uterine and cutaneous leiomyomata
Cancer/Tumor Associations with Limited Evidence
Testicular Leydig cell tumors, adrenal adenomas, ovarian cystadenomas
Download Fact Sheet
Download Clinical Guide
Hereditary Leukemia
Gene
More than 20 genes
Component Cancers/Tumors
Leukemia
Download Fact Sheet
Hereditary Papillary Renal Cell Cancer (MET mutations)
Gene
MET
Component Cancers/Tumors
Renal cell carcinoma (type I papillary), papillary renal adenomas
Cancer/Tumor Associations with Limited Evidence
Carcinomas of the lung, pancreas, stomach, rectum, and bile duct
Download Fact Sheet
Hereditary Pheochromocytoma/Paraganglioma (SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX mutations)
Gene
SDHA/B/C/D/AF2, MAX
Component Cancers/Tumors
Pheochromocytoma (PCC), paraganglioma (PGL), renal cell carcinoma (RCC), gastrointestinal stromal tumors (GIST)
Cancer/Tumor Associations with Limited Evidence
Non-medullary thyroid cancers, other neuroendocrine tumors
Download Fact Sheet
Download Clinical Guides
Hereditary Retinoblastoma (RB1 mutations)
Gene
RB1
Component Cancers/Tumors
Retinoblastoma, pineoblastoma, sarcoma (osteosarcoma, chondrosarcoma, fibrosarcoma, rhabdomyosarcoma, leiomyosarcoma), melanoma
Cancer/Tumor Associations with Limited Evidence
Leukemia, lymphoma, brain tumors, sebaceous carcinomas of the eyelid, malignant phyllodes tumors, retinomas, lipomas
Download Fact Sheet
Download Clinical Guide
Juvenile Polyposis Syndrome (BMPR1A and SMAD4 mutations)
Gene
BMPR1A/SMAD4
Component Cancers/Tumors
GI juvenile-type hamartomatous polyps (stomach, small intestine, colon, and rectum); colon, stomach, upper GI, and pancreatic cancers
Download Fact Sheet
Juvenile Polyposis Syndrome Fact Sheet - English
Juvenile Polyposis Syndrome Fact Sheet - Spanish
Download Clinical Guide
KIT-Associated Cancers
Gene
KIT
Conditions
Piebaldism, gastrointestinal stromal tumors (GISTs), and familial mastocytosis
Download Clinical Guide
Li-Fraumeni Syndrome (TP53 mutations)
Gene
TP53
Component Cancers/Tumors
Early-onset breast cancer, sarcomas, brain tumors, adrenal cortical carcinoma leukemia
Cancers/Tumor Associations with Limited Evidence
Renal cell cancer, lymphoma
Download Fact Sheets
Download Clinical Guide
Lynch Syndrome (MLH1, MSH2, MSH6, PMS2 and EPCAM mutations)
Gene
MLH1, MSH2, MSH6, PMS2, EPCAM
Component Cancers
Colorectal, uterine, ovarian, gastric, small bowel, pancreatic, CNS tumors, bladder/ureter cancer, hepatobiliary, and renal cancers
Cancers/Tumor Associations with Limited Evidence
Breast cancer
Download Fact Sheets
Download Clinical Guides
MRE11A-Associated Cancers
Gene
MRE11A
Component Cancers/Tumors
None
Cancers/Tumor Associations with Limited Evidence
Breast and ovarian cancers
Download Clinical Guide
MSH3-Associated Cancers
Gene
MSH3
Component Cancers/Tumors
Adenomatous polyps in the colon and small intestine, as well as colorectal and stomach cancers
Cancers/Tumor Associations with Limited Evidence
Brain tumors
Download Fact Sheet
Download Clinical Guide
Multiple Endocrine Neoplasia Type 1 (MEN1 mutations)
Gene
MEN1
Component Cancers/Tumors
Parathyroid, pituitary tumor, pheochromocytomas, pancreatic tumors (insulinomas, gastrinomas, VIPomas), carcinoids, adrenocortical cancers
Other features
Facial angiofibromas, collagenomas, lipomas
Download Fact Sheet
Download Clinical Guide
Multiple Endocrine Neoplasia Type 2 (RET mutations)
Gene
RET
Component Cancers/Tumors
Medullary thyroid cancer, pheochromocytoma, parathyroid neoplasia, adrenal tumors
Download Fact Sheet
Download Clinical Guides
MUTYH-Associated Cancers
Gene
MUTYH
Component Cancers/Tumors
Colon polyps; colorectal, small bowel, and gastric cancers; osteomas (benign bone tumor) of the jaw, benign tumors of hair follicles
Other features
Extra/impacted teeth, congenital retinal pigment epithelial hypertrophy (CHRPE)
Download Fact Sheets
Download Clinical Guides
NBN-Associated Cancers
Gene
NBN
Component Cancers/Tumors
Breast cancer
Cancer/Tumor Associations with Limited Evidence
Ovarian, prostate, and skin cancers
Download Fact Sheet
Download Clinical Guide
Neurofibromatosis Type 1 (NF1 mutations)
Gene
NF1
Component Cancers/Tumors
Neurofibromas, breast cancer, gliomas, malignant peripheral nerve sheath tumors, pheochromocytoma, leukemia, GIST, and rhabdomyosarcoma
Download Fact Sheet
Download Clinical Guide
NTHL1-Associated Cancers
Gene
NTHL1
Component Cancers/Tumors
Colorectal polyps, which can become cancerous if untreated
Download Fact Sheet
Download Clinical Guide
PALB2-Associated Cancers
Gene
PALB2
Component Cancers/Tumors
Breast and pancreatic cancers
Cancer/Tumor Associations with Limited Evidence
Ovarian and male breast cancers
Download Fact Sheet
Download Clinical Guide
Peutz-Jeghers Syndrome (STK11 mutations)
Gene
STK11
Component Cancers/Tumors
Gastrointestinal polyps; small bowel, colon, stomach, pancreatic, breast, cervical cancers; ovarian sex cord tumors with annular tubules (SCTAT), and sertoli cell tumors
Other features
Pigmented macules on skin and mouth
Download Fact Sheet
Download Clinical Guide
POLD1-Associated Cancers
Gene
POLD1
Component Cancers/Tumors
Colorectal cancer and adenomas
Cancer/Tumor Associations with Limited Evidence
Endometrial and other extra-intestinal cancers
Download Fact Sheet
Download Clinical Guide
POLE-Associated Cancers
Gene
POLE
Component Cancers/Tumors
Colorectal cancer and adenomas
Cancer/Tumor Associations with Limited Evidence
Extra-intestinal cancers
Download Fact Sheet
RAD50-Associated Cancers
Gene
RAD50
Component Cancers/Tumors
None
Cancer/Tumor Associations with Limited Evidence
Breast and ovarian cancers
Download Fact Sheet
Download Clinical Guide
RAD51C-Associated Cancers
Gene
RAD51C
Component Cancers/Tumors
Ovarian cancer
Cancer/Tumor Associations with Limited Evidence
Breast cancer
Download Fact Sheet
Download Clinical Guide
RAD51D-Associated Cancers
Gene
RAD51D
Component Cancers/Tumors
Ovarian cancer
Cancers/Tumors Associations with Limited Evidence
Breast cancer
Download Fact Sheet
Download Clinical Guide
Rhabdoid Tumor Predisposition Type 2 (SMARCA4 mutations)
Gene
SMARCA4
Component Cancers/Tumors
Atypical teratoid/rhabdoid tumors (AT/RT); malignant rhabdoid tumors of the kidney; small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Download Fact Sheet
Tuberous Sclerosis (TSC1 and TSC2 mutations)
Gene
TSC1/TSC2
Component Cancers/Tumors
Benign hamartomas in multiple organs (skin, CNS, kidney, liver, lungs, heart), renal cancer
Other features
Hypopigmented macules, facial angiofibromas, subependymal nodules, cortical and subcortical tubers, seizures, development delay/intellectual disability, renal angiomyolipomas, cardiac rhabdomyomas
Download Fact Sheet
Tuberous Sclerosis Fact Sheet - English
Tuberous Sclerosis Fact Sheet - Spanish
Download Clinical Guide
Von Hippel-Lindau (VHL mutations)
Gene
VHL
Component Cancers/Tumors
CNS/retinal hemangioblastomas, renal cancer, pheochromocytoma, pancreatic/liver cysts and tumors, benign tumors in the ear, cystadenomas of the epididymis (males)
Download Fact Sheet
Download Clinical Guide