Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: Implications on test strategies and clinical management

Breast Cancer Research and Treatment

Volumn 134, Issue 3, 2012, Pages 1229-1239

  Heidemann, Simone ^a   Fischer, Christine ^b   Engel, Christoph ^c   Fischer, Barbara ^a,d   Harder, Lana ^a   Schlegelberger, Brigitte ^a,e   Niederacher, Dieter ^f   Goecke, Timm O ^f   Doelken, Sandra C ^a   Dikow, Nicola ^b   Jonat, Walter ^a   Morlot, Susanne ^a   Schmutzler, Rita C ^a   Arnold, Norbert K ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY OF LEIPZIG   (Germany)

^d Psychiatric Hospital Rickling   (Germany)

^e HANNOVER MEDICAL SCHOOL   (Germany)

^f HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

BRCA1; BRCA2; Double heterozygosity; Double heterozygotes; Double mutation; Genetic testing

Indexed keywords

ADULT; AGE DISTRIBUTION; ARTICLE; BREAST CANCER; CANCER GROWTH; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DOUBLE HETEROZYGOSITY; ETHNIC GROUP; FEMALE; GENE MUTATION; GERMANY; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; ONSET AGE; OVARY CANCER; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; STRATEGIC PLANNING; TREATMENT PLANNING; TUMOR SUPPRESSOR GENE;

ADULT; AGE OF ONSET; AGED; BREAST NEOPLASMS; ETHNIC GROUPS; FAMILY; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RISK FACTORS;

EID: 84868207784     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-012-2050-4     Document Type: Article

References (32)

1. Miki Y, Swensen J, Shattuck-Eidens P et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71
2. Wooster R, Bignel G, Lancaster J, Swift S, Seal S, Mangion J, Collins N (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789-792
3. Ford D, Easton DF, Peto J (1995) Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet 57:1457-1462
4. Antoniou AC, Pharoah PDP, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ, Easton DF (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86:76-83
5. Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA (1999) The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am J Hum Genet 64:963-970
6. Rennert G, Bisland-Naggan S, Bar-Joseph N (2007) Outcome of breast cancer in BRCA mutation carriers in Israel. N Engl J Med 357:115-123
7. Lavie O, Narod S, Lejbkowicz F, Dishon S, Goldberg Y, Gemer O, Rennert G (2011) Double heterozygosity in the BRCA1 and BRCA2 genes in the Jewish population. Ann Oncol 22:964-966
8. Liede A, Rehal P, Vesprini D, Jack E, Abrahamson J, Narod SA (1998) A breast cancer patient of Scottish descent with germline mutations in BRCA1 and BRCA2. Am J Hum Genet 62:1543-1544
9. Loader S, Rowley PT (1998) Deleterious mutations of both BRCA1 and BRCA2 in three siblings. Genet Test 2:75-77
10. Tsongalis GJ, Linfert DR, Johnson RC, Ackroyd R, Berman MM, Ricci A Jr (1998) Double heterozygosity for mutations in the BRCA1 and BRCA2 genes in a breast cancer patient. Arch Pathol Lab Med 122:548-550
11. Tesoriero A, Andersen C, Southey M, Somers G, McKay M, Armes J, McCredie M, Giles G, Hopper JL, Venter D (1999) De novo BRCA1 mutation in a patient with breast cancer and an inherited BRCA2 mutation. Am J Hum Genet 65:567-569
12. Caldes T, De La Hoya M, Tosar A, Sulleiro S, Godino J, Ibañez D, Martin M, Perez-Segura P, Diaz-Rubio E (2002) A breast cancer family from Spain with germline mutations in both the BRCA1 and BRCA2 genes. J Med Genet 39:e44
13. Cortesi L, Turchetti D, Bertoni C, Zanocco-Marani T, Vinceti M, Silvestri C, Federico M, Silingardi V, Ferrari S (2003) Italian Breast Cancer Res Treat 123 family with two independent mutations:3358t/a in brca1 and 8756dela in brca2 genes. Eur J Hum Genet 11:210-214
14. Choi DH, Lee MH, Bale AE, Carter D, Haffty BG (2004) Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. J Clin Oncol 22:1638-1645
15. Choi DH, Lee MH, Haffty BC (2006) Double heterizygotes for non-Caucasian families with mutations in BRCA1 and BRCA2 genes. Breast J 12:216-220
16. Claus EB, Petruzella S, Matloff E, Carter D (2005) Prevalence of BRCA1 and BRCA2 mutations in women diagnosed with ductal carcinoma in situ. JAMA 293:964-969
17. Leegte B, Van Der Hout AH, Deffenbaugh AM, Bakker MK, Mulder IM, Ten Berge A, Leenders EP, Wesseling J, De Hullu J, Hoogerbrugge N, Ligtenberg MJ, Ardern-Jones A, Bancroft E, Salmon A, Barwell J, Eeles R, Oosterwijk JC (2005) Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations. J Med Genet 42:e20
18. Musolino A, Naldi N, Michiara M, Bella MA, Zanelli P, Bortesi B, Cappelletti M, Savi M, Neri TM, Ardizzoni A (2005) A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes. Breast Cancer Res Treat 91:203-205
19. Smith M, Fawcett S, Sigalas E, Bell R, Devery S, Andrieska N, Winship I (2008) Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes. Fam Cancer 7:119-124
20. Pilato B, De Summa S, Danza K, Lambo R, Paradiso A, Tommasi S (2010) Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report. Breast Cancer Res Treat 124:875-878
21. Zuradelli M, Peissel B, Manoukian S, Zaffaroni D, Barile M, Pensotti V, Cavallari U, Masci G, Mariette F, Benski AC, Santoro A, Radice P (2010) Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics. Breast Cancer Res Treat 124:251-258
22. Augustyn AM, Agostino NM, Namey TL, Nair S, Martino MA (2011) Two patients with germlline mutations in both BRCA1 and BRCA2 discovered unintentionally, a case series and discussion of BRCA testing modalities. Breast Cancer Res Treat 129:629-634
23. Interdisziplinare S3-Leitlinie für die Diagnostik, Therapie und Nachsorge des Mammakarzinoms (2008) http://www.awmf.org/uploads/tx-szleitlinien/ 032-045-01.pdf
24. Meindl A for the German Consortium for Hereditary Breast and Ovarian Cancer (2002) Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BCRA2 mutation profiles and frequencies for the German population. Int J Cancer 97(97):472-480
25. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucl Acids Res 30:e57
26. Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC, Goldgar DE (1996) Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 58:271-280
27. HGVS guidelines. http://www.hgvs.org/mutnomen
28. Craddock JM, Flood CR (1970) The distribution of Chi-squared statistic in small contingency tables. Appl Stat 19:173-181
29. Chen J, Silver DP, Walpita D, Cantor SB, Gazdar AF, Tomlinson G, Couch FJ, Weber BL, Ashley T, Livingston DM, Scully R (1998) Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells. Mol Cell 3:317-328
30. Liu Y, West SC (2002) Distinct functions of BRCA1 and BRCA2 in double-strand break repair. Breast Cancer Res 4:9-13
31. Gershoni-Baruch R, Dagan E, Kepten I, Freid G (1997) Cosegregation of BRCA1 185delAG mutation and BRCA2 6174delT in one single family. Eur J Cancer 33:2283-2284
32. Myriad Genetics Laboratories, Inc. Services and Price List. April 2010