A gene associated with hereditary breast and ovarian cancer syndrome, including the elevated chance to develop melanoma.

Also known as hereditary nonpolyposis colorectal cancer syndrome.

Characterized by bone marrow failure, physical abnormalities including malformed thumbs and short stature, and a high risk of hematologic malignancies.

Medical imaging that uses a low-dose x-ray system to aid in the early detection and diagnosis of breast disease in women.

The individual through whom a family with a genetic disorder is ascertained.

Characterized by multiple noncancerous growths (hamartomas), and an increased risk of developing certain cancers including breast, endometrial, and thyroid cancer.

Biallelic mutations in this gene are associated with a 43-100% chance of developing colorectal cancer.

A subtype of HNPCC associated with cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors.

Surgical procedure to remove the ovaries and Fallopian tubes.

Gold Standard (also known as "Chain Termination Method") for determining the nucleotide sequence of a DNA segment

A breast cancer gene that was first identified in patients with progressive cerebellar ataxia.

Benign adenomatous growths protruding from the mucous membrane of the colon. If left untreated, they may evolve into cancer.

Rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes, characterized by the childhood onset of brain tumors, colorectal cancers, hematologic malignancies, and skin findings such as café au lait spots.

Endoscopic examination of the large bowel and distal part of the small bowel.

A family-history weighted prediction algorithm providing 5, 10, and lifetime remaining risks to develop breast cancer.

Characterized by the increased risk for breast, brain, blood, and bone cancer.

Defined as having greater or equal to 100 polyps with nearly 100% risk of developing colon cancer.

Characterized by progressive difficulty with coordinating movements and the increased risk of developing leukemia and lymphoma. Affected individuals have extreme sensitivity to the effects of radiation exposure, including medical x-rays.

The use of medication to lower the risk or prevent cancer in healthy people.

The occurrence of two genetically distinct populations of cells within an individual, derived from a post-zygotic mutation.

Hereditary predisposition syndrome related to an increased risk for female breast cancer and ovarian neoplasms, including adenocarcinomas and sex cord tumors.

Deletions disrupting the 3’ end of this gene leads to epigenetic inactivation, and silencing of, its neighboring gene MSH2.

Characterized by abnormal blood vessel formation resulting in arteriovenous malformations in the lungs and brain, epistaxis, as well as the increased likelihood of polyp development in some gene-specific mutation carriers.

The surgical removal of the rectum and all, or part, of the colon.

A risk prediction algorithm based on variation in multiple genetic loci.