{"action":"created","issue":{"url":"https://api.github.com/repos/monarch-initiative/mondo/issues/554","repository_url":"https://api.github.com/repos/monarch-initiative/mondo","labels_url":"https://api.github.com/repos/monarch-initiative/mondo/issues/554/labels{/name}","comments_url":"https://api.github.com/repos/monarch-initiative/mondo/issues/554/comments","events_url":"https://api.github.com/repos/monarch-initiative/mondo/issues/554/events","html_url":"https://github.com/monarch-initiative/mondo/issues/554","id":385442066,"node_id":"MDU6SXNzdWUzODU0NDIwNjY=","number":554,"title":"familial meningioma","user":{"login":"pnrobinson","id":4943420,"node_id":"MDQ6VXNlcjQ5NDM0MjA=","avatar_url":"https://avatars0.githubusercontent.com/u/4943420?v=4","gravatar_id":"","url":"https://api.github.com/users/pnrobinson","html_url":"https://github.com/pnrobinson","followers_url":"https://api.github.com/users/pnrobinson/followers","following_url":"https://api.github.com/users/pnrobinson/following{/other_user}","gists_url":"https://api.github.com/users/pnrobinson/gists{/gist_id}","starred_url":"https://api.github.com/users/pnrobinson/starred{/owner}{/repo}","subscriptions_url":"https://api.github.com/users/pnrobinson/subscriptions","organizations_url":"https://api.github.com/users/pnrobinson/orgs","repos_url":"https://api.github.com/users/pnrobinson/repos","events_url":"https://api.github.com/users/pnrobinson/events{/privacy}","received_events_url":"https://api.github.com/users/pnrobinson/received_events","type":"User","site_admin":false},"labels":[],"state":"open","locked":false,"assignee":null,"assignees":[],"milestone":null,"comments":1,"created_at":"2018-11-28T20:24:26Z","updated_at":"2018-12-07T01:48:19Z","closed_at":null,"author_association":"MEMBER","body":"A meningioma that is transmitted from the parents to an offspring. [ NCIT:P378 ]\r\n\r\nThis definition is not great because this is not a Mendelian disease and in real cases it is not possible to know whether a meningioma susceptibility allele is the cause or not of a case of meningioma, and if you just observe two family members with meningioma, it is impossible to know whether this is the right diagnosis or not. Suggest obsoleting this term and discussing with NCIT."},"comment":{"url":"https://api.github.com/repos/monarch-initiative/mondo/issues/comments/445094388","html_url":"https://github.com/monarch-initiative/mondo/issues/554#issuecomment-445094388","issue_url":"https://api.github.com/repos/monarch-initiative/mondo/issues/554","id":445094388,"node_id":"MDEyOklzc3VlQ29tbWVudDQ0NTA5NDM4OA==","user":{"login":"cmungall","id":50745,"node_id":"MDQ6VXNlcjUwNzQ1","avatar_url":"https://avatars1.githubusercontent.com/u/50745?v=4","gravatar_id":"","url":"https://api.github.com/users/cmungall","html_url":"https://github.com/cmungall","followers_url":"https://api.github.com/users/cmungall/followers","following_url":"https://api.github.com/users/cmungall/following{/other_user}","gists_url":"https://api.github.com/users/cmungall/gists{/gist_id}","starred_url":"https://api.github.com/users/cmungall/starred{/owner}{/repo}","subscriptions_url":"https://api.github.com/users/cmungall/subscriptions","organizations_url":"https://api.github.com/users/cmungall/orgs","repos_url":"https://api.github.com/users/cmungall/repos","events_url":"https://api.github.com/users/cmungall/events{/privacy}","received_events_url":"https://api.github.com/users/cmungall/received_events","type":"User","site_admin":false},"created_at":"2018-12-07T01:48:19Z","updated_at":"2018-12-07T01:48:19Z","author_association":"MEMBER","body":"we should coordinate with NCIT here. \r\n\r\nNote they have:\r\n\r\n|NCIT:C5301|Hereditary Meningioma|A meningioma that is transmitted from the parents to an offspring|\r\n\r\nFull list of neoplasms in NCIT with hereditary/familial as prefix:\r\n\r\n|ID|Name|Def|\r\n|---|---|---|\r\n|NCIT:C103817|Hereditary Prostate Carcinoma|Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma|\r\n|NCIT:C115211|Familial Testicular Germ Cell Tumor|Germ cell tumor that arises from the testis and is diagnosed in at least two relatives|\r\n|NCIT:C115212|Familial Waldenstrom Macroglobulinemia|Waldenstrom macroglobulinemia in a patient who has at least one first degree relative with either Waldenstrom macroglobulinemia or another B-cell lymphoproliferative disorder|\r\n|NCIT:C115225|Familial Neuroblastoma|Neuroblastoma inherited from a parent and caused by mutations in the ALK or PHOX2B genes.  Familial neuroblastomas have a higher incidence of multiple primary tumors and are diagnosed at an earlier age|\r\n|NCIT:C118829|Familial Nonmedullary Thyroid Gland Carcinoma|A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family.  Current studies suggest that it is inherited in an autosomal dominant pattern.  It is often multifocal and bilateral and usually affects younger patients|\r\n|NCIT:C120083|Hereditary Nonpolyposis Colorectal Cancer|An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers.  It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes|\r\n|NCIT:C120084|Familial Colorectal Cancer Type X|Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes|\r\n|NCIT:C151897|Myeloid Neoplasms with Germline Predisposition without a Preexisting Disorder or Organ Dysfunction|Familial myeloid neoplasms associated with germline mutations without a preexisting disorder or organ dysfunction|\r\n|NCIT:C151898|Acute Myeloid Leukemia with Germline CEBPA Mutation|Familial acute myeloid leukemia (AML) syndrome associated with biallelic CEBPA mutations. Patients typically present with AML as children or young adults. The familial form of AML with germline CEBPA mutation has morphological and immunophenotypic features similar to those of sporadic AML with CEBPA mutations. Overall, it has a favorable prognosis. (WHO 2017|\r\n|NCIT:C151910|Myeloid Neoplasms with Germline Predisposition Associated with Other Organ Dysfunction|Familial myeloid neoplasms associated with germline mutations and a preexisting disorder or organ dysfunction other than a platelet disorder|\r\n|NCIT:C151921|Myeloid Neoplasms with Germline Predisposition Associated with Telomerase Biology Disorders|Familial myelodysplastic syndromes/ acute myeloid leukemias associated with telomerase biology disorders|\r\n|NCIT:C151922|Myeloid Neoplasms with Germline Predisposition Associated with Inherited Bone Marrow Failure Syndromes|Familial myelodysplastic syndromes/ acute myeloid leukemias associated with inherited bone marrow failure syndromes|\r\n|NCIT:C27237|Familial Adenomatous Polyposis Associated Medulloblastoma|A medulloblastoma developing in patients with familiar adenomatous polyposis syndrome.  It is observed in patients with Turcot syndrome, type 2|\r\n|NCIT:C3033|Familial Atypical Multiple Mole|\r\n|NCIT:C3339|Familial Adenomatous Polyposis|An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea|\r\n|NCIT:C36102|Hereditary Ovarian Carcinoma|Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma|\r\n|NCIT:C36106|Hereditary Male Breast Carcinoma|Breast carcinoma that has developed in male relatives of patients with history of breast carcinoma|\r\n|NCIT:C36107|Hereditary Female Breast Carcinoma|Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma|\r\n|NCIT:C36260|Hereditary Clear Cell Renal Cell Carcinoma|A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney.  It is characterized by the presence of lipid-containing clear cells within a vascular network.  The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common|\r\n|NCIT:C39789|Hereditary Renal Cell Carcinoma|\r\n|NCIT:C40455|Hereditary Fallopian Tube Carcinoma|Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma|\r\n|NCIT:C43295|Hereditary Diffuse Gastric Adenocarcinoma|An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations|\r\n|NCIT:C43298|Hereditary Pancreatic Carcinoma|A carcinoma that arises from the pancreas in a patient with a family history of pancreatic cancer.  In the minority of cases, patients have recognized genetic syndromes (e.g., FAMMM syndrome, BRCA2 syndrome, Peutz-Jeghers syndrome) however, in the majority of cases the genetic cause has not been identified|\r\n|NCIT:C4503|Hereditary Breast Carcinoma|Breast carcinoma that has developed in relatives of patients with history of breast carcinoma|\r\n|NCIT:C46099|Hereditary Thyroid Gland Medullary Carcinoma|A medullary thyroid gland carcinoma inherited through an autosomal dominant mode.  It is associated with multiple endocrine neoplasia type II (2a) or III (2b)|\r\n|NCIT:C51302|Hereditary Leiomyomatosis and Renal Cell Cancer|An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to leiomyomas of the skin and uterus, renal cell carcinoma, and leiomyosarcoma of the uterus|\r\n|NCIT:C5301|Hereditary Meningioma|A meningioma that is transmitted from the parents to an offspring|\r\n|NCIT:C5329|Hereditary Paraganglioma|An inherited neoplasm arising from paraganglia.  The majority of cases (up to 80%) are multifocal|\r\n|NCIT:C5350|Hereditary Glomangioma|A familial glomus tumor|\r\n|NCIT:C6725|Lynch 1 Syndrome|A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with a greater than 70 % risk of developing colorectal carcinoma. It is caused by a mutation in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous colorectal carcinomas. Clinical course is rapidly progressive. Prognosis is variable with a high risk for the development of additional colorectal carcinomas. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage|\r\n|NCIT:C6726|Lynch 2 Syndrome|A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage|\r\n|NCIT:C8494|Lynch Syndrome|An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present|\r\n|NCIT:C8495|Hereditary Retinoblastoma|An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma|\r\n|NCIT:C8496|Hereditary Wilms Tumor|Familial embryonal neoplasm derived from nephrogenic blastemal cells.  Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed.  Comprises approximately 1% of Wilms tumors.  (AFIP fascicle version 2.0|\r\n|NCIT:C8498|Hereditary Melanoma|A melanoma defined by the presence of multiple cases of cutaneous melanoma among blood-relatives on the same side of the family.  It is caused by germline mutations in the CDKN2A or CDK4 genes.  It is associated with an increased risk of pancreatic cancer in a subset of CDKN2A families (WHO, 2006)|\r\n|NCIT:C8960|Hereditary Kidney Oncocytoma|An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal.  This condition may be connected to Birt-Hogg-Dube syndrome|\r\n|NCIT:C9222|Hereditary Papillary Renal Cell Carcinoma|A familial carcinoma inherited in an autosomal dominant trait.  It is characterized by the development of multiple, bilateral papillary renal cell carcinomas.  The carcinomas range from microscopic lesions to clinically symptomatic tumors.  It is associated with activating mutations of the MET oncogene|\r\n|NCIT:C9479|Hereditary Malignant Neoplasm|Cancer aggregating among blood relatives.  Does not necessarily imply a genetic inheritance|\r\n"}}
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