{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T22:32:06Z","timestamp":1783031526221,"version":"3.54.6"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2007,7,12]],"date-time":"2007-07-12T00:00:00Z","timestamp":1184198400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2007,10,18]]},"DOI":"10.1007\/s10689-007-9143-y","type":"journal-article","created":{"date-parts":[[2007,7,17]],"date-time":"2007-07-17T00:08:29Z","timestamp":1184630909000},"page":"453-461","source":"Crossref","is-referenced-by-count":36,"title":["BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma"],"prefix":"10.1007","volume":"6","author":[{"given":"Christian","family":"Monnerat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Chompret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Fran\u00e7oise","family":"Avril","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Janin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Spatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marc","family":"Guinebreti\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalin","family":"Marian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Barrois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7oise","family":"Boitier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert M.","family":"Lenoir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Bressac-de Paillerets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,7,12]]},"reference":[{"key":"9143_CR1","doi-asserted-by":"crossref","first-page":"2285","DOI":"10.1002\/ijc.21651","volume":"118","author":"L Mellemkjaer","year":"2005","unstructured":"Mellemkjaer L, Friis S, Olsen JH et al (2005) Risk of second cancer among women with breast cancer. Int J Cancer 118:2285\u20132292","journal-title":"Int J Cancer"},{"key":"9143_CR2","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1023\/A:1018487506546","volume":"8","author":"N Volk","year":"1997","unstructured":"Volk N, Pompe-Kirn V (1997) Second primary cancers in breast cancer patients in Slovenia. Cancer Causes Control 8:764\u2013770","journal-title":"Cancer Causes Control"},{"key":"9143_CR3","first-page":"99","volume":"68","author":"EB Harvey","year":"1985","unstructured":"Harvey EB, Brinton LA (1985) Second cancer following cancer of the breast in Connecticut, 1935\u201382. Natl Cancer Inst Monogr 68:99\u2013112","journal-title":"Natl Cancer Inst Monogr"},{"key":"9143_CR4","first-page":"325","volume":"68","author":"M Ewertz","year":"1985","unstructured":"Ewertz M, Mouridsen HT (1985) Second cancer following cancer of the female breast in Denmark, 1943\u201380. Natl Cancer Inst Monogr 68:325\u2013329","journal-title":"Natl Cancer Inst Monogr"},{"key":"9143_CR5","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1023\/A:1006489918700","volume":"61","author":"C Rubino","year":"2000","unstructured":"Rubino C, De Vathaire F, Diallo I et al (2000) Increased risk of second cancers following breast cancer: role of the initial treatment. Breast Cancer Res Treat 61:183\u2013195","journal-title":"Breast Cancer Res Treat"},{"key":"9143_CR6","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/BF01810741","volume":"14","author":"AG Schwartz","year":"1989","unstructured":"Schwartz AG, Ragheb NE, Swanson GM et al (1989) Racial and age differences in multiple primary cancers after breast cancer: a population-based analysis. Breast Cancer Res Treat 14:245\u2013254","journal-title":"Breast Cancer Res Treat"},{"key":"9143_CR7","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1002\/1097-0142(19900901)66:5<874::AID-CNCR2820660511>3.0.CO;2-6","volume":"66","author":"RS Lavey","year":"1990","unstructured":"Lavey RS, Eby NL, Prosnitz LR (1990) Impact of radiation therapy and\/or chemotherapy on the risk for a second malignancy after breast cancer. Cancer 66:874\u2013881","journal-title":"Cancer"},{"key":"9143_CR8","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/0167-8140(93)90093-N","volume":"26","author":"MA Doherty","year":"1993","unstructured":"Doherty MA, Rodger A, Langlands AO et al (1993) Multiple primary tumours in patients treated with radiotherapy for breast cancer. Radiother Oncol 26:125\u2013131","journal-title":"Radiother Oncol"},{"key":"9143_CR9","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1002\/(SICI)1097-0215(19970904)72:5<776::AID-IJC12>3.0.CO;2-7","volume":"72","author":"F Levi","year":"1997","unstructured":"Levi F, La Vecchia C, Randimbison L et al (1997) Incidence of invasive cancers following cutaneous malignant melanoma. Int J Cancer 72:776\u2013779","journal-title":"Int J Cancer"},{"key":"9143_CR10","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1097\/00008390-200010020-00007","volume":"10","author":"S Retsas","year":"2000","unstructured":"Retsas S, Mohith A, Bell J et al (2000) Melanoma and additional primary cancers. Melanoma Res 10:145\u2013152","journal-title":"Melanoma Res"},{"key":"9143_CR11","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/1097-0142(19910801)68:3<660::AID-CNCR2820680337>3.0.CO;2-5","volume":"68","author":"M Gutman","year":"1991","unstructured":"Gutman M, Cnaan A, Inbar M et al (1991) Are malignant melanoma patients at higher risk for a second cancer? Cancer 68:660\u2013665","journal-title":"Cancer"},{"key":"9143_CR12","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/bjc.1996.45","volume":"73","author":"C Wassberg","year":"1996","unstructured":"Wassberg C, Thorn M, Yuen J et al (1996) Second primary cancers in patients with cutaneous malignant melanoma: a population-based study in Sweden. Br J Cancer 73:255\u2013259","journal-title":"Br J Cancer"},{"key":"9143_CR13","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1002\/ijc.2910610606","volume":"61","author":"AJ Swerdlow","year":"1995","unstructured":"Swerdlow AJ, Storm HH, Sasieni PD (1995) Risks of second primary malignancy in patients with cutaneous and ocular melanoma in Denmark, 1943\u20131989. Int J Cancer 61:773\u2013779","journal-title":"Int J Cancer"},{"issue":"5","key":"9143_CR14","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/ijc.20322","volume":"111","author":"W Goggins","year":"2004","unstructured":"Goggins W, Gao W, Tsao H (2004) Association between female breast cancer and cutaneous melanoma. Int J Cancer 111(5):792\u2013794","journal-title":"Int J Cancer"},{"key":"9143_CR15","first-page":"139","volume-title":"Human malignant melanoma","author":"MH Greene","year":"1979","unstructured":"Greene MH, Fraumeni JF (1979) The hereditary variant of farnilial melanoma. In: Clark WH Jr., Goldman LI, Mastrangelo MJ (eds) Human malignant melanoma. Grune and Stratton, New York, pp 139\u2013166"},{"key":"9143_CR16","doi-asserted-by":"crossref","unstructured":"Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet (2001) 358:1389\u20131399","DOI":"10.1016\/S0140-6736(01)06524-2"},{"key":"9143_CR17","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/ng0994-15","volume":"8","author":"CJ Hussussian","year":"1994","unstructured":"Hussussian CJ, Struewing JP, Goldstein AM et al (1994) Germline p16 mutations in familial melanoma. Nat Genet 8:15\u201321","journal-title":"Nat Genet"},{"key":"9143_CR18","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng0196-97","volume":"12","author":"L Zuo","year":"1996","unstructured":"Zuo L, Weger J, Yang Q et al (1996) Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. Nat Genet 12:97\u201399","journal-title":"Nat Genet"},{"key":"9143_CR19","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.7545954","volume":"266","author":"Y Miki","year":"1994","unstructured":"Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66\u201371","journal-title":"Science"},{"key":"9143_CR20","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/378789a0","volume":"378","author":"R Wooster","year":"1995","unstructured":"Wooster R, Bignell G, Lancaster J et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789\u2013792","journal-title":"Nature"},{"key":"9143_CR21","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1126\/science.1978757","volume":"250","author":"D Malkin","year":"1990","unstructured":"Malkin D, Li FP, Strong LC et al (1990) Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233\u20131238","journal-title":"Science"},{"key":"9143_CR22","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1054\/bjoc.2000.1167","volume":"82","author":"A Chompret","year":"2000","unstructured":"Chompret A, Brugieres L, Ronsin M et al (2000) P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 82:1932\u20131937","journal-title":"Br J Cancer"},{"key":"9143_CR23","first-page":"6643","volume":"63","author":"M Olivier","year":"2003","unstructured":"Olivier M, Goldgar DE, Sodha N et al (2003) Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63:6643\u20136650","journal-title":"Cancer Res"},{"key":"9143_CR24","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/jnci\/92.15.1260","volume":"92","author":"A Borg","year":"2000","unstructured":"Borg A, Sandberg T, Nilsson K et al (2000) High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 92:1260\u20131266","journal-title":"J Natl Cancer Inst"},{"key":"9143_CR25","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1002\/(SICI)1097-0215(19991112)83:4<441::AID-IJC2>3.0.CO;2-R","volume":"83","author":"P Ghiorzo","year":"1999","unstructured":"Ghiorzo P, Ciotti P, Mantelli M et al (1999) Characterization of ligurian melanoma families and risk of occurrence of other neoplasia. Int J Cancer 83:441\u2013448","journal-title":"Int J Cancer"},{"key":"9143_CR26","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1093\/jnci\/91.15.1310","volume":"91","author":"Cancer risks in BRCA2 mutation carriers","year":"1999","unstructured":"Cancer risks in BRCA2 mutation carriers (1999) The breast cancer linkage consortium. J Natl Cancer Inst 91:1310\u20131316","journal-title":"J Natl Cancer Inst"},{"key":"9143_CR27","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1023\/A:1008389021382","volume":"9","author":"F Eisinger","year":"1998","unstructured":"Eisinger F, Alby N, Bremond A et al (1998) Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee. Ann Oncol 9:939\u2013950","journal-title":"Ann Oncol"},{"key":"9143_CR28","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1002\/humu.1130","volume":"17","author":"W Xiao","year":"2001","unstructured":"Xiao W, Oefner PJ (2001) Denaturing high-performance liquid chromatography: a review. Hum Mutat 17:439\u2013474","journal-title":"Hum Mutat"},{"key":"9143_CR29","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1038\/sj.onc.1201889","volume":"16","author":"JM Flaman","year":"1998","unstructured":"Flaman JM, Robert V, Lenglet S et al (1998) Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast. Oncogene 16:1369\u20131372","journal-title":"Oncogene"},{"key":"9143_CR30","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/hmg\/6.1.53","volume":"6","author":"G Bignell","year":"1997","unstructured":"Bignell G, Micklem G, Stratton MR et al (1997) The BRC repeats are conserved in mammalian BRCA2 proteins. Hum Mol Genet 6:53\u201358","journal-title":"Hum Mol Genet"},{"key":"9143_CR31","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1158\/0008-5472.417.65.2","volume":"65","author":"K Wu","year":"2005","unstructured":"Wu K, Hinson SR, Ohashi A et al (2005) Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 65:417\u2013426","journal-title":"Cancer Res"},{"key":"9143_CR32","doi-asserted-by":"crossref","first-page":"3245","DOI":"10.1200\/JCO.1999.17.10.3245","volume":"17","author":"RF Kefford","year":"1999","unstructured":"Kefford RF, Newton Bishop JA, Bergman W et al (1999) Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol 17:3245\u20133251","journal-title":"J Clin Oncol"},{"key":"9143_CR33","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/hmg\/7.2.209","volume":"7","author":"N Soufir","year":"1998","unstructured":"Soufir N, Avril MF, Chompret A et al (1998) Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. Hum Mol Genet 7:209\u2013216","journal-title":"Hum Mol Genet"},{"key":"9143_CR34","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1086\/342192","volume":"71","author":"JD Fackenthal","year":"2002","unstructured":"Fackenthal JD, Cartegni L, Krainer AR et al (2002) BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet 71:625\u2013631","journal-title":"Am J Hum Genet"},{"key":"9143_CR35","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/S0925-4439(00)00072-7","volume":"1502","author":"K Mayer","year":"2000","unstructured":"Mayer K, Ballhausen W, Leistner W et al (2000) Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. Biochim Biophys Acta 1502:495\u2013507","journal-title":"Biochim Biophys Acta"},{"key":"9143_CR36","doi-asserted-by":"crossref","first-page":"2679","DOI":"10.1093\/hmg\/10.23.2679","volume":"10","author":"M Harland","year":"2001","unstructured":"Harland M, Mistry S, Bishop DT et al (2001) A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet 10:2679\u20132686","journal-title":"Hum Mol Genet"},{"key":"9143_CR37","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1093\/jnci\/94.18.1358","volume":"94","author":"D Thompson","year":"2002","unstructured":"Thompson D, Easton DF (2002) Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94:1358\u20131365","journal-title":"J Natl Cancer Inst"},{"key":"9143_CR38","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/ng0197-14","volume":"15","author":"SJ Ramus","year":"1997","unstructured":"Ramus SJ, Friedman LS, Gayther SA et al (1997) A breast\/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2. Nat Genet 15:14\u201315","journal-title":"Nat Genet"},{"key":"9143_CR39","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1034\/j.1399-0004.2000.570111.x","volume":"57","author":"R Moslehi","year":"2000","unstructured":"Moslehi R, Russo D, Phelan C et al (2000) An unaffected individual from a breast\/ovarian cancer family with germline mutations in both BRCA1 and BRCA2. Clin Genet 57:70\u201373","journal-title":"Clin Genet"},{"key":"9143_CR40","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1086\/302503","volume":"65","author":"A Tesoriero","year":"1999","unstructured":"Tesoriero A, Andersen C, Southey M et al (1999) De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet 65:567\u2013569","journal-title":"Am J Hum Genet"},{"key":"9143_CR41","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1002\/(SICI)1097-0215(20000315)85:6<796::AID-IJC10>3.0.CO;2-L","volume":"85","author":"A Borg","year":"2000","unstructured":"Borg A, Isola J, Chen J et al (2000) Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma. Int J Cancer 85:796\u2013800","journal-title":"Int J Cancer"},{"key":"9143_CR42","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1046\/j.1523-1747.2001.01279-2.x","volume":"116","author":"J Reifenberger","year":"2001","unstructured":"Reifenberger J, Arnold N, Kiechle M et al (2001) Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. J Invest Dermatol 116:472\u2013474","journal-title":"J Invest Dermatol"},{"key":"9143_CR43","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1002\/(SICI)1098-2264(199906)25:2<91::AID-GCC3>3.0.CO;2-5","volume":"25","author":"SJ Ramus","year":"1999","unstructured":"Ramus SJ, Bobrow LG, Pharoah PD et al (1999) Increased frequency of TP53 mutations in BRCA1 and BRCA2 ovarian tumours. Genes Chromosomes Cancer 25:91\u201396","journal-title":"Genes Chromosomes Cancer"},{"key":"9143_CR44","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1038\/ng747","volume":"29","author":"J Jonkers","year":"2001","unstructured":"Jonkers J, Meuwissen R, van der Gulden H et al (2001) Synergistic tumor suppressor activity of BRCA2 and p53 in a conditional mouse model for breast cancer. Nat Genet 29:418\u2013425","journal-title":"Nat Genet"},{"key":"9143_CR45","first-page":"8811","volume":"61","author":"M Gadd","year":"2001","unstructured":"Gadd M, Pisc C, Branda J et al (2001) Regulation of cyclin D1 and p16(INK4A) is critical for growth arrest during mammary involution. Cancer Res 61:8811\u20138819","journal-title":"Cancer Res"},{"key":"9143_CR46","first-page":"1367","volume":"58","author":"K Haraldsson","year":"1998","unstructured":"Haraldsson K, Loman N, Zhang QX et al (1998) BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease. Cancer Res 58:1367\u20131371","journal-title":"Cancer Res"},{"key":"9143_CR47","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1093\/jnci\/94.12.894","volume":"94","author":"DT Bishop","year":"2002","unstructured":"Bishop DT, Demenais F, Goldstein AM et al (2002) Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 94:894\u2013903","journal-title":"J Natl Cancer Inst"},{"key":"9143_CR48","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/gcc.1183","volume":"32","author":"S Auroy","year":"2001","unstructured":"Auroy S, Avril MF, Chompret A et al (2001) Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect. Genes Chromosomes Cancer 32:195\u2013202","journal-title":"Genes Chromosomes Cancer"},{"key":"9143_CR49","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmg.37.11.828","volume":"37","author":"C Eng","year":"2000","unstructured":"Eng C (2000) Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 37:828\u2013830","journal-title":"J Med Genet"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-007-9143-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-007-9143-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-007-9143-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,13]],"date-time":"2023-05-13T11:30:32Z","timestamp":1683977432000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-007-9143-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,12]]},"references-count":49,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,10,18]]}},"alternative-id":["9143"],"URL":"https:\/\/doi.org\/10.1007\/s10689-007-9143-y","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,12]]}}}