Genetics and Molecular Medicine Terms

A substance being studied in the treatment of breast, ovarian, and prostate cancers caused by mutations (changes) in the BRCA1 and BRCA2 genes.

A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands.

A gene formed when pieces of chromosomes 9 and 22 break off and trade places.

A protein made from pieces of two genes that get joined together.

A gene therapy agent that is being studied in the treatment of cancer.

Any measurable signal from the body that stands in for something harder to observe directly.

A biorepository is a facility that collects and preserves biological samples for future research rather than for direct patient care.

Samples of material, such as urine, blood, tissue, cells, DNA, RNA, and protein from humans, animals, or plants.

An inherited trio of skin bumps, lung cysts and kidney tumors, most often noticed when a lung suddenly collapses.

Bloom syndrome is a rare inherited disorder causing short stature and a sun sensitive facial rash, with a markedly increased cancer risk.

Bloom-Torre-Machacek syndrome is the full clinical name for Bloom syndrome, a rare inherited disorder marked by short stature and elevated cancer risk.

A gene that makes a protein called B-RAF, which is involved in sending signals in cells and in cell growth.

A gene on chromosome 17 that normally helps to suppress cell growth.

A gene on chromosome 13 that normally helps to suppress cell growth.

A computer program that uses statistics to predict whether a person has an inherited mutation (change) in the BRCA1 and BRCA2 genes.

A substance being studied in the treatment of breast cancers caused by mutations (changes) in the BRCA1 and BRCA2 genes.

A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves.

A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso.

A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves.

A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso.