We are analyzing https://link.springer.com/article/10.1186/1897-4287-6-1-22.

Title:
Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome | Hereditary Cancer in Clinical Practice
Description:
Cancer is associated with a wide range of hereditary disorders. Recognizing these disorders in cancer patients may be of great importance for the medical management of both patients and their relatives. Conversely, recognizing the fact that cancer may develop as a complication of a particular hereditary disorder which has already been diagnosed may be important for the same reason. The Familial Cancer Database (FaCD) is a web-based application http://www.facd.info which has been developed at our department with the intention to assist clinicians and genetic counsellors in making a genetic differential diagnosis in cancer patients, as well as in becoming aware of the tumour spectrum associated with hereditary disorders that have already been diagnosed in their patients. This encyclopaedia is published in parts and discusses the disorders included in the FaCD database in alphabetical order. It lists names, synonyms, OMIM number, mode of inheritance, associated genes, phenotype, clinical discussion and references. The purpose of presenting this encyclopaedia in paper format is simply that we hope that you as clinicians and researchers find it helpful to browse through it and familiarize yourself even better with the scope of genetic disorders that have been associated with increased tumour risk.
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Keywords {🔍}

cancer, syndrome, familial, risk, tumour, breast, features, cell, patients, reported, genet, med, tumours, family, carcinoma, disease, inheritance, mapped, skin, number, increased, references, history, mode, basal, cases, comment, gene, disorder, omim, genes, multiple, carney, mutations, relatives, nontumour, case, brain, genetic, cervical, acute, leukaemia, ovarian, clin, age, hereditary, report, synonym, lymphoma, families,

Topics {✒️}

multiple café-au-lait spots café-au-lait spots autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy cafe-au-lait spots polyethylene glycol-adenosine deaminase plantar pits functioning extra-adrenal paraganglioma syndrome de birt-hogg-dub� rod-cone dystrophy physician-based case-control study bazex-dupré-christol syndrome maps franco-swiss case-control study migratory ichthyosiform rash palmoplantar skin pits vertebral arch defects basal-cell-nevus syndrome chronic muco-cutaneous candidiasis corpus callosal agenesis diabetes mellitus pizz alpha1-antitrypsin deficiency alpha-1-antitrypsin deficiency/haplosufficiency extra-adrenal pheochromocytoma ras/mapk signalling pathway population-based case-control study developing extra-oesophageal cancer 5q35 p57/kip2/cdkn1c progressive cerebellar ataxia systematic population-based assessment adenosine deaminase deficiency bannayan-riley-ruvalcaba syndrome birt-hogg-dube syndrome birt-hogg-dubé syndrome birt- hogg-dubé syndrome adenosine deaminase-deficient patient extra-adrenal paraganglioma web-based application http thyroid gland abnormalities breast/ovarian cancer relationship nhl t-cell lymphoma choroid plexus papilloma alpha1-antitrypsin deficiency carriers leydig cell tumours ruvalcaba-myhre-smith syndrome sex-cord stromal tumours external ear canal bannayan-riley-ruvalcaba phenotype early-onset colorectal cancer findings include plagiocephaly population-based cohort investigations severe combined immunodeficiency

Questions {❓}

A family history of Barrett's oesophagus: another risk factor?
AT-tributable risks?
Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist?
Advanced stage of dysgerminoma in testicular feminisation: is radical surgery necessary?
Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?
Can susceptibility to carcinoid tumors be inherited?
Caroli's disease: a premalignant condition?
Cervical cancer risk: is there a genetic component?
Could this disorder be a variant of Cowden syndrome or Peutz-Jeghers syndrome?
Eine kutane paraneoplasie?
Familial risks in cervical cancer: is there a hereditary component?
Is glandular cheilitis a precancerous disease?
Is the risk of acute lymphoblastic leukemia reduced in siblings to children with the disease?
Mode of inheritance: AD/AR?
Mode of inheritance: AD?
Mode of inheritance: AR?
Mode of inheritance: multifact?
Mode of inheritance: spor/multifact?

Schema {🗺️}

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         description:Cancer is associated with a wide range of hereditary disorders. Recognizing these disorders in cancer patients may be of great importance for the medical management of both patients and their relatives. Conversely, recognizing the fact that cancer may develop as a complication of a particular hereditary disorder which has already been diagnosed may be important for the same reason. The Familial Cancer Database (FaCD) is a web-based application http://www.facd.info which has been developed at our department with the intention to assist clinicians and genetic counsellors in making a genetic differential diagnosis in cancer patients, as well as in becoming aware of the tumour spectrum associated with hereditary disorders that have already been diagnosed in their patients. This encyclopaedia is published in parts and discusses the disorders included in the FaCD database in alphabetical order. It lists names, synonyms, OMIM number, mode of inheritance, associated genes, phenotype, clinical discussion and references. The purpose of presenting this encyclopaedia in paper format is simply that we hope that you as clinicians and researchers find it helpful to browse through it and familiarize yourself even better with the scope of genetic disorders that have been associated with increased tumour risk.
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      headline:Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome
      description:Cancer is associated with a wide range of hereditary disorders. Recognizing these disorders in cancer patients may be of great importance for the medical management of both patients and their relatives. Conversely, recognizing the fact that cancer may develop as a complication of a particular hereditary disorder which has already been diagnosed may be important for the same reason. The Familial Cancer Database (FaCD) is a web-based application http://www.facd.info which has been developed at our department with the intention to assist clinicians and genetic counsellors in making a genetic differential diagnosis in cancer patients, as well as in becoming aware of the tumour spectrum associated with hereditary disorders that have already been diagnosed in their patients. This encyclopaedia is published in parts and discusses the disorders included in the FaCD database in alphabetical order. It lists names, synonyms, OMIM number, mode of inheritance, associated genes, phenotype, clinical discussion and references. The purpose of presenting this encyclopaedia in paper format is simply that we hope that you as clinicians and researchers find it helpful to browse through it and familiarize yourself even better with the scope of genetic disorders that have been associated with increased tumour risk.
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