Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer

American Journal of Human Genetics

Volumn 60, Issue 5, 1997, Pages 1068-1078

  Håkansson, Sara ^a   Johannsson, Oskar ^a   Johansson, Ulla ^a   Sellberg, Gunilla ^a   Loman, Niklas ^a   Gerdes, Anne Marie ^b   Holmberg, Eva ^c   Dahl, Niklas ^d   Pandis, Nikos ^a   Kristoffersson, Ulf ^a   Olsson, Håkan ^a   Borg, Åke ^a  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^d UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER FAMILY; DISEASE PREDISPOSITION; EXON; FAMILIAL CANCER; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GERM LINE; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; OVARY CANCER; PRIORITY JOURNAL; SCANDINAVIA; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 16944367027     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Breast Cancer Information Core (BIC). http://www.nhgri.nih .gov/Intramural_research/Lab_transfer/Bic
2. Chapman MS, Verma IM (1996) Transcriptional activation by BRCA1. Nature 382:678-679
3. Cleton-Jansen A-M, Collins N, Lakhani SR, Weissenbach J, Devilee P, Cornelisse CJ, Stratton MR (1995) Loss of heterozygosity in sporadic breast tumours at the BRCA2 locus on chromosome 13q12-q13. Br J Cancer 72:1241-1244
4. Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, et al (1996) BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 13:123-125
5. Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, King MC (1994) Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 8:399-404
6. Gayther SA, Warren W, Mazoyer S, Russell P, Harrington PA, Mathias Chiano M, Seal S, et al (1995) Germline mutations of the BRCA1 gene in breast/ovarian cancer families provide evidence for a genotype/phenotype correlation. Nat Genet 11:428-433
7. Gudmundsson J, Johannesdottir G, Arason A, Bergthorsson JT, Ingvarsson S, Egilsson V, Barkardottir RB (1996) Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype. Am J Hum Genet 58:749-756
8. Jensen RA, Thompson ME, Jetton TL, Szabo CI, Vandermeer R, Helou B, Tronick SR, et al (1996) BRCA1 is secreted and exhibits properties of a granin. Nat Genet 12:303-308
9. Johannsson O, Ostermeyer EA, Håkansson S, Friedman LS, Johansson U, Sellberg G, Brøndum-Nielsen K, et al (1996) Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. Am J Hum Genet 58:441-450
10. Kainu T, Kononen J, Johannsson O, Olsson H, Borg Å, Isola J (1996) Detection of germline BRCA1 mutations in breast cancer patients by quantitative messenger RNA in situ hybridization. Cancer Res 56:2912-2915
11. Lancaster JM, Wooster R, Mangion J, Phelan CM, Cochran C, Gumbs C, Seal S, et al (1996) BRCA2 mutations in primary breast and ovarian cancers. Nat Genet 13:238-240
12. Mazoyer S, Dunning AM, Serova O, Dearden J, Puget N, Healey CS, Gayther SA, et al (1996) A BRCA2 polymorphic stop codon resulting in loss of the putative granin domain. Nat Genet 13:253-256
13. Miki Y, Katagiri T, Kasumi F, Yoshimoto T, Nakamura Y (1996) Mutation analysis in the BRCA2 gene in primary breast cancers. Nat Genet 13:245-247
14. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
15. Moore MP (1996) Male breast cancer. In: Harris JR, Lippman ME, Morrow M, Hellman S (eds) Diseases of the breast. Lippincott-Raven, Philadelphia, pp 859-863
16. Neuhausen S, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, Hampel H, et al (1996) Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nat Genet 13:126-128
17. Olsson H, Aim P, Kristoffersson U, Landin Olsson M (1984) Hypophyseal tumor and gynecomastia preceding bilateral breast cancer development in a man. Cancer 53:1974-1977
18. Phelan CM, Lancaster JM, Tonin P, Gumbs C, Cochran C, Carter R, Ghadirian P, et al (1996) Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet 13:120-122
19. Rebbeck TR, Couch FJ, Kant J, Calzone K, DeShano M, Peng Y, Chen K, et al (1996) Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2. Am J Hum Genet 59:547-553
20. Schutte M, Da Costa LT, Hahn SA, Moskaluk C, Shamsul Hoque ATM, Rozenblum E, Weinstein CL, et al (1995) Identification by representational difference analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region. Proc Natl Acad Sci USA 92: 5950-5954
21. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Weber B, Collins F, et al (1995) A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA 273:535-541
22. Szabo CI, King M-C (1995) Inherited breast and ovarian cancer. Hum Mol Genet 4:1811-1817
23. Takahashi H, Chiu H-C, Bandera CA, Beehbakht K, Liu PC, Couch FJ, Weber BL, et al (1996) Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Res 56: 2738-2741
24. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen D, Merajver S, et al (1996) The complete BRCA2 gene and mutations in chromosome 13q-linked families. Nat Genet 12:333-337
25. Teng DH-F, Bogden R, Mitchell J, Baumgard M, Bell R, Berry S, Davis T, et al (1996) Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet 13:241-244
26. Thorlacius S, Tryggvadottir L, Olafsdottir GH, Jonasson JG, Ogmundsdottir HM, Tulinius H, Eyfjord JE (1996) A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet 13: 117-119
27. van den Berg J, Johannsson O, Håkansson S, Olsson H, Borg A (1996) Allelic loss at chromosome 13q12-q13 is associated with poor prognosis in familial and sporadic breast cancer. Br J Cancer 74:1615-1619
28. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792
29. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, et al (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265:2088-2090