flash cards MRCS

Cystic Fibrosis

A genetic disorder caused by mutations in the CFTR gene, leading to respiratory and digestive issues.

AR

Autosomal recessive, a type of inheritance pattern where two copies of an abnormal gene must be present for the disease to manifest.

CFTR gene

The gene located on chromosome 7 that is mutated in cystic fibrosis.

Meconium ileus

A condition often associated with cystic fibrosis, characterized by intestinal blockage due to thick, sticky meconium.

Sweat chloride test

A diagnostic test for cystic fibrosis where a sweat chloride level >60 mEq/L indicates the disease.

MEN 1 (Wermer syndrome)

An autosomal dominant condition associated with hyperparathyroidism, gastrinoma, and pituitary tumors.

MEN1 gene

The gene associated with Multiple Endocrine Neoplasia type 1, located on chromosome 11.

3 Ps of MEN 1

Parathyroid tumors (95%), Pancreas (Gastrinoma), Pituitary tumors.

MEN 2A (Sipple syndrome)

An autosomal dominant condition characterized by medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.

RET oncogene

The gene associated with Multiple Endocrine Neoplasia type 2, located on chromosome 10.

MPH of MEN 2A

Medullary thyroid carcinoma, Pheochromocytoma, Hyperparathyroidism.

MEN 2B

An autosomal dominant disorder characterized by medullary thyroid carcinoma, marfanoid habitus, and mucosal neuromas.

Li-Fraumeni syndrome

An autosomal dominant disorder associated with a high risk of various cancers including sarcoma and breast cancer.

TP53 gene

A gene located on chromosome 17p, mutations of which are associated with Li-Fraumeni syndrome.

SBLA syndromes

The association of Sarcoma, Breast cancer, Leukemia, and Adrenal cancer in Li-Fraumeni syndrome.

FAP (Familial Adenomatous Polyposis)

An autosomal dominant condition caused by mutations in the APC gene, leading to colorectal cancer.

APC gene

The gene located on chromosome 5q21 associated with familial adenomatous polyposis.

Lynch syndrome (HNPCC)

An autosomal dominant genetic condition associated with a higher risk of colorectal and endometrial cancer.

MMR genes

Mismatch repair genes (MSH2/MLH1) mutated in Lynch syndrome.

Amsterdam II criteria

A set of criteria for identifying families at risk for Lynch syndrome, following the 3-2-1 rule (3 family members with Lynch-related cancers, 2 generations, 1 cancer before age 50).

VHL (Von Hippel-Lindau) syndrome

A genetic disorder associated with the VHL gene, leading to predisposition for various tumors.

VHL gene

The gene located on chromosome 3p associated with Von Hippel-Lindau syndrome.

Clear cell RCC

Clear cell renal cell carcinoma, a type of kidney cancer associated with VHL syndrome.

Hemangioblastomas

Benign tumors associated with VHL syndrome, typically found in the brain and spinal cord.

Pheochromocytoma

A tumor of the adrenal gland that can secrete catecholamines, associated with multiple genetic syndromes including VHL and MEN.