{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:51Z","timestamp":1760783091471,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,12]]},"abstract":"<jats:p>The numbers of referrals to genetics clinics for people with a family history of cancer is increasing rapidly. Although it is likely that presymptomatic testing will soon be available for some families, for the majority of people with a family history of malignancy, risk can only be assessed by examining their pedigrees and referring to standard texts. In order to find out if clinical geneticists are providing consistent risks and suggestions for management we surveyed consultant clinical geneticists with a questionnaire about four people with a family history of malignancy. The clinical geneticists replying to our questionnaire gave consistent advice for the person with a family history of colon cancer, but there was wide variation in suggested risks and management for those with family histories of breast and multisite cancers. This survey shows that deciding on appropriate management for cancer families can be difficult and that there is uncertainty about the most effective methods of screening young people at high risk of developing cancers. However, it is important to provide consistent advice in order to evaluate screening protocols and lack of consistency in advice given to different family members can cause anxiety and distress. Consistency may be achieved by the use of one model for risk calculation, and by representatives from several specialties, such as surgery, radiology, genetics, and public health working together in order to coordinate local and national screening policies.<\/jats:p>","DOI":"10.1136\/jmg.33.12.977","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"977-980","source":"Crossref","is-referenced-by-count":6,"title":["Cancer families: what risks are they given and do the risks affect management?"],"prefix":"10.1136","volume":"33","author":[{"given":"E M","family":"Rosser","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C J","family":"Chapman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1126\/science.1651562","article-title":"Identification of FAP locus genes from chromosome 5q21","volume":"253","author":"Kinzler, K.W.; Nilbert, M.C.; Su, L.K.","year":"1991","unstructured":"Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991;253: 661-5.","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1126\/science.1651563","article-title":"Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients","volume":"253","author":"Nishisho, I.; Nakamura, Y.; Miyoshi, Y.","year":"1991","unstructured":"Nishisho I, Nakamura Y, Miyoshi Y, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991;253:665-9.","journal-title":"Science"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/0092-8674(81)90021-0","article-title":"Identification and characterization of the familial adenomatous polyposis coli gene","volume":"66","author":"Groden, J.; Thliveris, A.; Samowitz, W.","year":"1991","unstructured":"Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66:589-600.","journal-title":"Cell"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1126\/science.8484120","article-title":"Genetic mapping of a locus predisposing to human colorectal cancer","volume":"260","author":"Peltomaki, P.; Aaltonen, L.A.; Sistonen, P.","year":"1994","unstructured":"Peltomaki P, Aaltonen LA, Sistonen P, et al. Genetic mapping of a locus predisposing to human colorectal cancer. Science 1994;260:810-12.","journal-title":"Science"},{"key":"ref_5","first-page":"812","article-title":"Clues to the pathogenesis of familial colorectal cancer","volume":"260","author":"Altonen, L.A.; Peltomaki, P.; Leach, F.S.","year":"1994","unstructured":"Altonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1994; 260:812-16.","journal-title":"Science"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1126\/science.8484122","article-title":"Microsatellite instability in cancer of the proximal colon","volume":"260","author":"Thibodeau, S.N.; Bren, G.; Schaid, D.","year":"1994","unstructured":"Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1994;260:816-22.","journal-title":"Science"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","article-title":"Isolation of BRCA1, the 17q-linked breast and ovarian cancer susceptibility gene","volume":"266","author":"Miki, Y.; Swenson, J.; Shattock-Eidens, D.","year":"1994","unstructured":"Miki Y, Swenson J, Shattock-Eidens D, et al. Isolation of BRCA1, the 17q-linked breast and ovarian cancer susceptibility gene. Science 1994;266:66-71.","journal-title":"Science"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2088","DOI":"10.1126\/science.8091231","article-title":"Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13ql2-13","volume":"265","author":"Wooster, R.; Neuhausen, S.L.; Mangion, J.","year":"1994","unstructured":"Wooster R, Neuhausen SL, Mangion J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13ql2-13. Science 1994;265:2088-90.","journal-title":"Science"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.12.977","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:11:56Z","timestamp":1760731916000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.12.977"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,12]]},"references-count":8,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1996,12,1]]},"published-print":{"date-parts":[[1996,12]]}},"alternative-id":["10.1136\/jmg.33.12.977"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.12.977","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,12]]}}}