{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T12:13:06Z","timestamp":1789992786465,"version":"4.0.1"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Desmoid disease is a major cause of morbidity and mortality in familial adenomatous polyposis (FAP), particularly after prophylactic colorectal surgery. Although APC genotype and family history are recognized risk factors, previous sizeable studies report relative rather than absolute risks. This study aimed to quantify absolute postoperative desmoid risk in FAP patients undergoing risk-reducing colectomy, stratified by APC genotype, and to assess the modifying effect of family history.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This retrospective observational study used records from a prospectively maintained registry. Patients with an APC pathogenic variant (PV) 3\u2032 of codon 1399 were classified as high risk, and those with an APC PV 5\u2032 of (or at) codon 1399 were classified as low risk. Patients who had not undergone prophylactic colectomy, with &amp;lt; 5 years of postoperative follow-up, or those with a desmoid diagnosed before or at the time of surgery were excluded. Clinical records were reviewed for details of surgery, desmoid diagnosis, and family history. A positive family history was defined as a first-degree relative with genetically confirmed FAP and a diagnosis of desmoid disease (clinical and\/or radiological).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 48 high-risk patients, 30 (63%) developed desmoid, with no significant difference between colectomy and proctocolectomy (54% versus 70%, respectively; \u03c72 = 1.42; P = 0.233). Family history was present in 35 of the 48 patients (73%) and increased desmoid risk relative to no family history (80% versus 15%, respectively; P &amp;lt; 0.01). Among the 1213 low-risk patients, 154 (12.7%) developed desmoids, with no significant effect of surgical procedure (13.9% versus 12.1% for proctocolectomy and total\/partial colectomy, respectively; \u03c7\u00b2 = 0.77; P = 0.380). Family history increased desmoid risk relative to no family history (30% versus 10%, respectively; P &amp;lt; 0.01).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>A family history of desmoid disease appears to be an important determinant of postoperative desmoid risk in FAP. Although APC PV 3\u2032 of codon 1399 does confer a high overall risk, this is largely confined to individuals with first-degree relatives with desmoid. In the absence of a family history, postoperative desmoid risk appeared relatively low regardless of genotype. This supports a more individualized approach to perioperative counselling and surgical decision-making in patients with FAP. In addition, these data highlight that patients with both a 3\u2032 APC PV and a positive family history are a particularly high-risk subgroup who may represent an appropriate target population for future chemoprevention trials.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bjsopen\/zrag090","type":"journal-article","created":{"date-parts":[[2026,6,7]],"date-time":"2026-06-07T11:34:05Z","timestamp":1780832045000},"source":"Crossref","is-referenced-by-count":0,"title":["Defining absolute postoperative desmoid risk in familial adenomatous polyposis according to\n                    <i>APC<\/i>\n                    genotype and family history: retrospective cohort study"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8866-3209","authenticated-orcid":false,"given":"Benjamin","family":"Zare","sequence":"first","affiliation":[{"name":"St Mark\u2019s Centre for Familial Intestinal Cancer, St Mark's Hospital , London ,","place":["UK"]},{"name":"Department of Surgery and Cancer, Imperial College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massih","family":"Bahar","sequence":"additional","affiliation":[{"name":"St Mark\u2019s Centre for Familial Intestinal Cancer, St Mark's Hospital , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Clark","sequence":"additional","affiliation":[{"name":"St Mark\u2019s Centre for Familial Intestinal Cancer, St Mark's Hospital , London ,","place":["UK"]},{"name":"Department of Surgery and Cancer, Imperial College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Latchford","sequence":"additional","affiliation":[{"name":"St Mark\u2019s Centre for Familial Intestinal Cancer, St Mark's Hospital , London ,","place":["UK"]},{"name":"Department of Surgery and Cancer, Imperial College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,9,21]]},"reference":[{"key":"2026092106484522200_zrag090-B1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-4-22","article-title":"Familial adenomatous polyposis","volume":"4","author":"Half","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"2026092106484522200_zrag090-B2","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1136\/gut.35.3.377","article-title":"Desmoid tumours in familial adenomatous polyposis","volume":"35","author":"Gurbuz","year":"1994","journal-title":"Gut"},{"key":"2026092106484522200_zrag090-B3","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/s10689-005-5959-5","article-title":"Desmoid tumors\u2014a characterization of patients seen at Mayo Clinic 1976\u20131999","volume":"5","author":"Fallen","year":"2006","journal-title":"Fam 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