Margaret M. O'Malley

Margaret M. O'Malley

Department Of Colorectal Surgery, Cleveland Clinic, Cleveland, Oh, Usa Sanford R. Weiss Md Center For Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Oh, Usa

Direct Impact

Concepts for which Margaret M O'Malley has direct influence:

familial adenomatous polyposis
lynch syndrome
duodenal cancer
hereditary hemorrhagic telangiectasia
normal baseline

External impact

Concepts related to the work of other authors for which Margaret M O'Malley has influence:

colorectal cancer
familial adenomatous polyposis
active surveillance program
thyroid carcinoma
cowden syndrome
prophylactic hysterectomy
pten mutation

Prominent publications by Margaret M. O'Malley

KOL-Index: 47 Background: Familial adenomatous polyposis (FAP) is a condition typically caused by pathogenic germline mutations in the APC gene. In addition to colon polyps, individuals with FAP have a substantially increased risk of developing papillary thyroid cancer (PTC). Little is known about the events underlying this association, and the prevalence of somatic "second-hit" mutations in APC is ...
Known for
Ptcs | Colon Polyps | Recurrently Harbor | Apc Braf
KOL-Index: 35 OBJECTIVE: The primary aim of this study was to determine the prevalence of occult gynecologic malignancy at the time of risk reducing surgery in patients with Lynch Syndrome. A secondary aim was to determine the prevalence of occult gynecologic malignancy at the time of surgery for non-prophylactic indications in patients with Lynch Syndrome. METHODS: A retrospective review of an Inherited ...
Known for
Benign Indication | Amsterdam Criteria | Additional Surgery | Malignancy Time
KOL-Index: 20 Since first characterized in 1997, patients with hereditary mixed polyposis syndrome (HMPS) have been difficult to identify because of lack of well-established diagnostic criteria. Recently, HMPS was found to be caused by a duplication on chromosome 15 spanning the 3' end of the SCG5 gene and a region upstream of the GREM1 locus. Clinical testing for the duplication is available; however, ...
Known for
Grem1 Hereditary | 1 Mixed Hyperplastic-Inflammatory Polyp | Fifty-One Colonoscopies | Colectomy
KOL-Index: 18 BACKGROUND: Familial adenomatous polyposis (FAP) is a hereditary colon cancer syndrome that involves multiple extracolonic organs, including the thyroid. Several studies have estimated the rate of thyroid cancer in FAP to occur at five times the rate of the general population, but no current consensus defines screening for thyroid cancer in this cohort. This study seeks to define the ...
Known for
Thyroid Surveillance | 14 Papillary | Sub-Centimeter Nodules | Nodule Detected
KOL-Index: 18 INTRODUCCIÓNEl Registro de Cáncer Colorrectal Hereditario es uno de los registros más antiguos y más grandes de su tipo. Incluye a los pacientes con todos los síndromes hereditarios de cáncer colorrectal, utilizando los tres enfoques básicos, la atención al paciente, la educación y la investigación. Este artículo resume la estructura y función del registro, y da ejemplos de sus ...
Known for
Hereditarios Cáncer Colorrectal | Realizaron 60 Cirugías | 61 Poliposis Asociada | Salud
KOL-Index: 18 BACKGROUND: Desmoid disease can be a serious, life-threatening complication of familial adenomatous polyposis. The ability to predict patients at increased desmoid risk is important, but a convincing genotype-phenotype correlation for desmoid formation has not yet been described. PURPOSE: The aim of this study is to assess the relationship between desmoid disease and genotype in patients ...
Known for
3 Mutation | Desmoid Tumors | First-Degree | Primary Points
KOL-Index: 18 OBJECTIVES: Duodenal cancer in familial adenomatous polyposis (FAP) arises from adenomas. Differentially expressed genes (DEGs) in the duodenal adenoma-carcinoma pathway have been identified in murine FAP models, but similar data in patients with FAP are limited. Identifying such changes may have significance in understanding duodenal polyposis therapies and identifying cancer biomarkers. We ...
Known for
Duodenal Adenoma-Carcinoma Pathway | Retinol | Cancer-Adenoma Comparison | Sequence Fap
KOL-Index: 16 Hereditary hemorrhagic telangiectasia (HHT) is characterized by abnormal vascular structures that may present as epistaxis, telangiectasias, and/or arteriovenous malformations. The genes associated with HHT (ACVRL1, ENG, and SMAD4) are members of the TGFβ pathway. Other syndromes associated with abnormalities in TGFβ signaling include Marfan syndrome, Loeys-Dietz syndrome and related ...
Known for
Loeys-Dietz Syndrome | Hht Acvrl1 | Nomograms | Single Pediatric Cardiologist
KOL-Index: 16 BACKGROUND: Juvenile polyposis syndrome is a dominant GI polyposis syndrome defined by ≥ 5 GI juvenile polyps or ≥ 1 juvenile polyps with a family history of juvenile polyposis. Mutations in BMPR1A or SMAD4 are found in 50% of individuals. Hereditary hemorrhagic telangiectasia is a dominant disorder characterized by epistaxis, visceral arteriovenous malformations, and telangiectasias. ...
Known for
Syndrome Juvenile | Hereditary Hemorrhagic Telangiectasia Screening | Smad4 Mutations | Telangiectasia Criteria
KOL-Index: 15 BACKGROUND AND AIMS: Proctocolectomy prevents colorectal cancer in familial adenomatous polyposis (FAP). Colorectal polyp progression is one of the indications for surgery. No data exist regarding the natural history of colorectal polyposis in young patients with FAP. This study examined the rate of polyposis progression and factors associated with it. METHODS: Patients with FAP <30 years ...
Known for
Endoscopic Non-Endoscopic | 52 Female | 25 Polyps | Chemoprevention

Department of Colorectal Surgery, Cleveland Clinic, Cleveland, OH, USA Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, OH, USA

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