A hypothesis-generating search for new genetic breast cancer syndromes - A national study in 803 Swedish families

Hereditary Cancer in Clinical Practice

Volumn 5, Issue 1, 2007, Pages 17-24

  Von Wachenfeldt, Anna ^a,g   Lindblom, Annika ^a   Grönberg, Henrik ^c   Einbeigi, Zakaria ^d   Rosenquist, Richard ^e   Gardman, Camilla ^f   Iselius, Lennart ^a   Henriksson, Karin ^b   Loman, Niklas ^b   Kristoffersson, Ulf ^b   Olsson, Håkan ^b   Jóhansson, Oscar ^b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF GOTHENBURG   (Sweden)

^e UPPSALA UNIVERSITY   (Sweden)

^f LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^g STOCKHOLM SÖDER HOSPITAL   (Sweden)

Author keywords

Breast cancer; Endometrial cancer; Family history; Genetics; Syndromes

Indexed keywords

ARTICLE; BREAST CANCER; CANCER RISK; COLON TUMOR; CONTROLLED STUDY; ENDOMETRIUM TUMOR; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; LEUKEMIA; LIVER TUMOR; MAJOR CLINICAL STUDY; OVARY TUMOR; PANCREAS TUMOR; SWEDEN;

EID: 34147222282     PISSN: 17312302     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Cancer incidence in Sweden 1999: Swedish National Board of Health and Welfare.
2. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000; 343: 78-85.
3. Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991; 48: 232-242.
4. Claus EB, Risch NJ, Thompson WD. Age at onset as an indicator of familialrisk of breast cancer. Am J Epidemiol 1990; 131: 961-972.
5. King MC, Go RC, Lynch HT Elston RC, Terasaki PI, Petrakis NL, Rodgers GC, Lattanzio D, Bailey-Wilson J. Genetic epidemiology of breast cancer and associated cancers in high-risk families. II. Linkage analysis. J Natl Cancer Inst 1983; 71: 463-467.
6. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 1969; 71: 747-752.
7. Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP. Germline p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol Biomarker Prev 2001; 10: 83-87.
8. Zelada-Hedman M, Borresen-Dale AL, Claro A, Chen J, Skoog L, Lindblom A. Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families. Br J Cancer 1997; 75: 1201-1204.
9. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 1999; 286: 2528-2531.
10. CHEK2 Breast Cancer Case-Control Consortium. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 2004; 74: 1175-1182.
11. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, Zheng Z, Bose S, Call KM, Tsou HC, Peacocke M, Eng C, Parsons R. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997; 16: 64-67.
12. Chen J, Lindblom P, Lindblom A. A study of the PTEN/MMAC1 gene in 136 breast cancer families. Hum Genet 1998; 102: 124-125.
13. Keller G, Vogelsang H, Becker I, Hutter J, Ott K, Candidus S, Grundei T, Becker KF, Mueller J, Siewert JR, Hofler H. Diffuse type gastric and lobular breast carcinoma in a familial gastric cancer patient with an E-cadherin germline mutation. Am J Pathol 1999; 155: 337-342.
14. Salahshor S, Haixin L, Huo H, Kristensen VN, Loman N, Sjoberg-Margolin S, Borg A, Borresen-Dale AL, Vorechovsky I, Lindblom A. Low frequency of E-cadherin alterations in familial breast cancer. Breast Cancer Res 2001; 3: 199-207.
15. Borg A, Sandberg T, Nilsson K , Johannsson O, Klinker M, Masback A, Westerdahl J, Olsson H, Ingvar C. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. J Natl Cancer Inst 2000; 92: 1260-1266.
16. Athma P, Rappaport R, Swift M. Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet 1996; 92: 130-134.
17. Chen J, Birkholtz GG, Lindblom P, Rubio C, Lindblom A. The role of ataxia-telangiectasia heterozygotes in familial breast cancer. Cancer Res 1998; 58: 1376-1379.
18. Chenevix-Trench G, Spurdle AB, Gatei M, Kelly H, Marsh A, Chen X, Donn K, Cummings M, Nyholt D, Jenkins MA, Scott C, Pupo GM, Dork T, Bendix R, Kirk J, Tucker K, McCredie MR, Hopper JL, Sambrook J, Mann GJ, Khanna KK. Dominant negative ATM mutations in breast cancer families. J Natl Cancer Inst 2002; 94: 205-215.
19. Buchholz TA, Weil MM, Ashorn CL, Strom EA, Sigurdson A, Bondy M, Chakraborty R, Cox JD, McNeese MD, Story MD. A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls. Cancer 2004; 100: 1345-1351.
20. Szabo CI, Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, Floore AN, Kraan J, Klijn JG, van den Ouweland AM, Wagner TM, Devilee P, Simard J, van 't Veer LJ, Goldgar DE, Meijers-Heijboer H. Are ATM mutations 7271T->G and IVS10-6T->G really high-risk breast cancer-susceptibility alleles? Cancer Res 2004; 64: 840-843.
21. Bernstein JL, Bernstein L, Thompson WD, Lynch CF, Malone KE, Teitelbaum SL, Olsen JH, Anton-Culver H, Boice JD, Rosenstein BS, Borresen-Dale AL, Gatti RA, Concannon P, Haile RW; WECARE Study Collaborative Group. ATM variants 7271 T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer. Br J Cancer 2003; 89: 1513-1516.
22. Henriksson K, Olsson H, Kristoffersson U. The need for oncogenetic counselling. Ten years' experience of a regional oncogenetic clinic. Acta Oncol 2004; 43: 637-649.
23. Einbeigi Z, Bergman A, Kindblom LG, Martinsson T, Meis-Kindblom JM, Nordling M, Suurkula M, Wahlstrom J, Wallgren A, Karlsson P. A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer. Eur J Cancer 2001; 37: 1904-1909.
24. Arver B, Claro A, Langerod A, Borresen-Dale AL, Lindblom A. BRCA1 screening in patients with a family history of breast or ovarian cancer. Genet Test 1999; 3: 223-226.
25. Goshen R, Chu W, Elit L, Pal T, Hakimi J, Ackerman I, Fyles A, Mitchell M, Narod SA. Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome? Gynecol Oncol 2000; 79: 477-481.
26. Lorenzo Bermejo J, Hemminki K. Familial association of histology specific breast cancers with cancers at other sites. Int J Cancer 2004; 109: 430-435.