The presence of hereditary BRCA1 gene mutations in women with familial breast or ovarian cancer and the frequency of occurrence of these tumours in their relatives

European Journal of Gynaecological Oncology

Volumn 25, Issue 4, 2004, Pages 470-474

  Skasko, E ^a   Paszko, Z ^a   Niwinska A ^a   Kwiatkowska, E ^a   Kruczek, A ^a   Pienkowski T ^a  

^a INSTITUTE OF ONCOLOGY   (Poland)

Author keywords

BRCA1 gene mutation; Familial breast cancer; Familial ovarian cancer

Indexed keywords

BRCA1 PROTEIN;

ADULT; AGE; ARTICLE; BREAST CANCER; CANCER INCIDENCE; FAMILIAL CANCER; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; ONCOGENE; OVARY CANCER; PATHOGENESIS; POLYMERASE CHAIN REACTION; RELATIVE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGE FACTORS; BREAST NEOPLASMS; COHORT STUDIES; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; INCIDENCE; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; POLAND; PROGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RISK FACTORS; SENSITIVITY AND SPECIFICITY;

EID: 3242725270     PISSN: 03922936     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Hoskins I., Hoskins J.: "Hereditary ovarian cancer". Surg. Oncol. Clin. No. Am., 1994, 3, 523.
2. Vasen H.F.A.: "Inherited forms of colorectal, breast, and ovarian cancer". Sur. Oncol. Clin. No. Am., 1994, 3, 501.
3. Tonin P., Weber B., Offit K., Couch F., Rebbeck T.R., Neuhausen S. et al.: "Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families". Nat. Med., 1996, 2, 1179.
4. Bergthorsson J.T., Ejlertsen B., Olsen J.H., Borg A., Nielsen K.V., Barakardottir R.B. et al.: "BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age". J. Med. Genet., 2001, 38, 361.
5. Reedy M., Gallion H., Fowler J.M., Kryscio R., Smith S.A.: "Contribution of BRCA1 and BRCA2 to familial ovarian cancer: a gynecologic oncology group study". Gynecol. Oncol., 2002, 85, 255.
6. Martin A.M., Blackwood M.A., Antin-Ozerkis D., Shih H.A., Calzone K., Colligon T.A. et al.: "Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic". J. Clin. Oncology, 2001, 19, 2247.
7. Shih H.A., Couch F.J., Nathanson K.L., Blackwood M.A., Rebbeck T.R., Armstrong K.A. et al.: "BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic". J. of Clin. Oncology, 2002, 20, 994.
8. Risch H.A., McLaughlin J.R., Cole D.E., Rosen B., Bradley L., Kwan E. et al.: "Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer". Am. J. Hum. Genet., 2001, 68, 700.
9. Gayther S.A., Warren W., Mazoyer S., Russell P.A., Harrington P.A., Chiano M. et al.: "Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation". Nat. Genet., 1995, 11, 428.
10. Shattuck-Eidens D., McClure M., Simard J., Labrie F., Narod S., Couch F. et al.: "A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening". JAMA, 1995, 273, 535.
11. Kluska A., Skasko E., Jagielska A., Wieczorek E., Paszko Z., Niwińska A. et al.: "Changes in BRCA2 gene in women with familial breast cancer treated at the Oncology Center in Warsaw". In: Summaries of the Polish Conference "Diagnosis and treatment of breast cancer". Warsaw-Falenty, 2001, 22.
12. Paszko Z., Skasko E., Wigniewska A., Konopka B., Kluska A., Jagielska A. et al.: "Changes in BRCA1 and BRCA2 gene in women with familial breast cancer treated at the Oncology Center in Warsaw". Nowotwory, J. Oncol., 2002, 53 (suppl. 4), 117.
13. nd ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, 1989.
14. Paszko Z., Skasko E., Wigniewska A., Konopka B., Jagielska A. et al.: "Changes in BRCA1 gene in patients with familial breast cancer in the Warsaw region of Poland". Nowotwory, J. Oncol., 2002, 52, 97.
15. Friedman L.S., Ostermeyer E.A., Szabo C.I., Dowd P., Lynch E.D., Rowell S.E. et al.: "Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families". Nat. Genet., 1994, 8, 399.
16. Gayther S.A., Russell P., Harrington P., Antoniou A.C., Easton D.F., Ponder B.A.: "The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: No evidence for other ovarian-susceptibility genes". Am. J. Hum. Genet., 1999, 65, 1021.
17. Moslehi R., Chu W., Karlan B., Fishman D., Risch H., Fields A. et al.: "BRCA1 and BRCA2 mutation analysis of 208Ashkenazi Jewish women with ovarian cancers". Am. J. Hum. Genet., 2000, 66, 1259.
18. Whittemore A.S., Gong G., Itnyre J.: "Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer". Am. J. Hum. Genet., 1997, 60, 496.
19. Sobczak K., Kozlowski P., Napierala M., Czarny J., Woiniak M., Kapuścińska M. et al.: "Novel BRCA1 mutations and more frequent intron-20 alteration found among236 women from Western Poland". Oncogene, 1997, 15, 1773.
20. Paszko Z., Skasko E., Wiśniewska A. et al.: "The occurrence of BRCA1 gene mutation in the genome of women with breast cancer". In: Summaries of the XIX PTO Congress. Gdańsk, 1998, 10-12.09.
21. Paszko Z., Skasko E., Wiśniewska A. et al.: "Search for BRCA1 gene mutation in women with breast cancer with familial proneness to the disease". In: Summaries of the XVI PTE Congress. Bialystok-Mikolajki, 1999, 10-14.09.
22. Górski B., Byrski T., Huzarski T., Jakubowska A., Menkiszak J., Gronwald J. et al.: "Founder mutations in the BRCA1 gene in polish families with breast-ovarian cancer". Am. J. Hum. Genet., 2000, 66, 1963.
23. Górski B., Jakubowska A.J., Huzarski T., Gronwald J., Byrski T., Stawicka M. et al.: "The latest advances in prophylaxis, diagnosis and tumour treatment in carriers of BRCA1 mutations". Nowotwory, J. Oncol., 2002, 52 (suppl. 3), 122.
24. Grzybowska E., Zientek H., Jasińska A., Rusin M., Kozlowski P., Sobczak K. et al.: "High frequency of recurrent mutations BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer". Hum. Mutat., 2000, 16, 482.
25. Jakubowska A., Gorski B., Byrski T., Huzarski T., Gronwald J., Menkiszak J. et al.: "Detection of germline mutations in the BRCA1 gene by RNA-base sequencing". Hum. Mutat., 2001, 18, 149.