Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: A first case report

Breast Cancer Research and Treatment

Volumn 124, Issue 3, 2010, Pages 875-878

  Pilato, Brunella ^a   De Summa, Simona ^a   Danza, Katia ^a   Lambo, Rossana ^a   Paradiso, Angelo ^a   Tommasi, Stefania ^a  

^a NATIONAL CANCER INSTITUTE GIOVANNI PAOLO II   (Italy)

Author keywords

BRCA1; BRCA2; Breast and ovarian cancer; Double heterozygosity (DH); Mutation

Indexed keywords

ADULT; ARTICLE; BREAST CANCER; CANCER GRADING; CASE REPORT; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTERVIEW; INTRADUCTAL CARCINOMA; LIVER METASTASIS; ONCOGENE; OVARY ADENOCARCINOMA; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

ADULT; BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HUMANS; ITALY; LIVER NEOPLASMS; MALE; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; PHENOTYPE;

EID: 78649330972     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-010-1125-3     Document Type: Article

References (24)

1. S Tommasi B Pilato R Pinto A Monaco M Bruno M Campana M Digennaro F Schittulli R Lacalamita A Paradiso 2008 Molecular and in silico analysis of brca1 and brca2 variants Mutat Res 644 1-2 64 70 S0027-5107(08)00135-8 1:CAS:528:DC%2BD1cXhtVejurbM 18694767
2. Diez O, Gutierrez-Enriquez S, Masas M, Tenes A, Yague C, Arcusa A, Llort G (2010) Identification of a new complex deleterious mutation in exon 18 of the brca2 gene in a hereditary male/female breast cancer family. Breast Cancer Res Treat. doi: 10.1007/s10549-010-0830-2
3. Pilato B, Martinucci M, Danza K, Pinto R, Petriella D, Lacalamita R, Bruno M, Lambo R, D'Amico C, Paradiso A, Tommasi S (2010) Mutations and polymorphic brca variants transmission in breast cancer familial members. Breast Cancer Res Treat. doi: 10.1007/s10549-010-0861-8
4. Sluiter MD, van Rensburg EJ (2010) Large genomic rearrangements of the brca1 and brca2 genes: Review of the literature and report of a novel brca1 mutation. Breast Cancer Res Treat. doi: 10.1007/s10549-010-0817-z
5. 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. doi: 10.1007/s10549-010-0853-8
6. L Cortesi D Turchetti C Bertoni T Zanocco-Marani M Vinceti C Silvestri M Federico V Silingardi S Ferrari 2003 Italian family with two independent mutations: 3358t/a in brca1 and 8756dela in brca2 genes Eur J Hum Genet 11 3 210 214 10.1038/sj.ejhg.52009485200948 1:CAS:528:DC%2BD3sXisFKgt74%3D 10.1038/sj.ejhg.5200948 12673274
7. A Musolino N Naldi M Michiara MA Bella P Zanelli B Bortesi M Capelletti M Savi TM Neri A Ardizzoni 2005 A breast cancer patient from Italy with germline mutations in both the brca1 and brca2 genes Breast Cancer Res Treat 91 2 203 205 10.1007/s10549-004-7704-4 10.1007/s10549-004-7704-4 15868448 (Pubitemid 40684932)
8. S Tommasi A Crapolicchio R Lacalamita M Bruno A Monaco S Petroni F Schittulli S Longo M Digennaro D Calistri A Mangia A Paradiso 2005 Brca1 mutations and polymorphisms in a hospital-based consecutive series of breast cancer patients from apulia, Italy Mutat Res 578 1-2 395 405 S0027-5107(05)00250-2 1:CAS:528:DC%2BD2MXhtVOkt7%2FK 16026807
9. DA Berry ES Iversen Jr DF Gudbjartsson EH Hiller JE Garber BN Peshkin C Lerman P Watson HT Lynch SG Hilsenbeck WS Rubinstein KS Hughes G Parmigiani 2002 Brcapro validation, sensitivity of genetic testing of brca1/brca2, and prevalence of other breast cancer susceptibility genes J Clin Oncol 20 11 2701 2712 1:CAS:528:DC%2BD38XkvF2mtrs%3D 10.1200/JCO.2002.05.121 12039933 (Pubitemid 34575644)
10. B Leegte AH van der Hout AM Deffenbaugh MK Bakker IM Mulder A ten Berge EP Leenders J Wesseling J de Hullu N Hoogerbrugge MJ Ligtenberg A Ardern-Jones E Bancroft A Salmon J Barwell R Eeles JC Oosterwijk 2005 Phenotypic expression of double heterozygosity for brca1 and brca2 germline mutations J Med Genet 42 3 e20 42/3/e20 1:STN:280:DC%2BD2M7htlGisQ%3D%3D 10.1136/jmg.2004.027243 15744030
11. D Abeliovich L Kaduri I Lerer N Weinberg G Amir M Sagi J Zlotogora N Heching T Peretz 1997 The founder mutations 185delag and 5382insc in brca1 and 6174delt in brca2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women Am J Hum Genet 60 3 505 514 1:CAS:528:DyaK2sXhvFGjtLY%3D 9042909
12. G Rennert S Dishon HS Rennert F Fares 2005 Differences in the characteristics of families with brca1 and brca2 mutations in Israel Eur J Cancer Prev 14 4 357 361 00008469-200508000-00008 1:STN:280: DC%2BD2Mznt1Wkug%3D%3D 10.1097/00008469-200508000-00008 16030426 (Pubitemid 41104944)
13. JM Satagopan J Boyd ND Kauff M Robson L Scheuer S Narod K Offit 2002 Ovarian cancer risk in Ashkenazi Jewish carriers of brca1 and brca2 mutations Clin Cancer Res 8 12 3776 3781 1:CAS:528:DC%2BD38XpslCjt7g%3D 12473589 (Pubitemid 35424769)
14. A Kataki I Gomatos N Pararas A Armakolas D Panousopoulos G Karantzikos D Voros G Zografos C Markopoulos E Leandros M Konstadoulakis 2005 Identification of germline brca1 and brca2 genetic alterations in Greek breast cancer moderate-risk and low-risk individuals-correlation with clinicopathological data Clin Genet 67 4 322 329 CGE400 1:STN:280:DC%2BD2M7gtlajug%3D%3D 10.1111/j.1399-0004.2004.00400.x 15733268 (Pubitemid 40424828)
15. De Benedetti VM, Radice P, Pasini B, Stagi L, Pensotti V, Mondini P, Manoukian S, Conti A, Spatti G, Rilke F, Pierotti MA (1998) Characterization of ten novel and 13 recurring brca1 and brca2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online. Hum Mutat 12(3):215
16. A Armakolas A Ladopoulou I Konstantopoulou B Pararas IP Gomatos A Kataki MM Konstadoulakis GP Stathopoulos C Markopoulos E Leandros I Gogas D Yannoukakos G Androulakis 2002 Brca2 gene mutations in Greek patients with familial breast cancer Hum Mutat 19 1 81 82 10.1002/humu.9003 10.1002/humu.9003 11754111
17. R Moslehi D Russo C Phelan E Jack K Antman S Narod 2000 An unaffected individual from a breast/ovarian cancer family with germline mutations in both brca1 and brca2 Clin Genet 57 1 70 73 1:STN:280:DC%2BD3c7psFektQ%3D%3D 10.1034/j.1399-0004.2000.570111.x 10733239 (Pubitemid 30105564)
18. DW Bell J Erban DC Sgroi DA Haber 2002 Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both brca1 and brca2 Cancer Res 62 10 2741 2743 1:CAS:528:DC%2BD38XjvFSmsbY%3D 12019146
19. JP Struewing P Hartge S Wacholder SM Baker M Berlin M McAdams MM Timmerman LC Brody MA Tucker 1997 The risk of cancer associated with specific mutations of brca1 and brca2 among Ashkenazi Jews N Engl J Med 336 20 1401 1408 10.1056/NEJM199705153362001 1:STN:280:DyaK2s3nsVShug%3D%3D 10.1056/ NEJM199705153362001 9145676 (Pubitemid 27208598)
20. E Warner W Foulkes P Goodwin W Meschino J Blondal C Paterson H Ozcelik P Goss D Allingham-Hawkins N Hamel L Di Prospero V Contiga C Serruya M Klein R Moslehi J Honeyford A Liede G Glendon JS Brunet S Narod 1999 Prevalence and penetrance of brca1 and brca2 gene mutations in unselected Ashkenazi Jewish women with breast cancer J Natl Cancer Inst 91 14 1241 1247 1:CAS:528: DyaK1MXltVOhu7k%3D 10.1093/jnci/91.14.1241 10413426
21. JM Satagopan K Offit W Foulkes ME Robson S Wacholder CM Eng SE Karp CB Begg 2001 The lifetime risks of breast cancer in Ashkenazi Jewish carriers of brca1 and brca2 mutations Cancer Epidemiol Biomarkers Prev 10 5 467 473 1:CAS:528:DC%2BD3MXktlClu7s%3D 11352856
22. MS Brose TR Rebbeck KA Calzone JE Stopfer KL Nathanson BL Weber 2002 Cancer risk estimates for brca1 mutation carriers identified in a risk evaluation program J Natl Cancer Inst 94 18 1365 1372 1:CAS:528: DC%2BD38Xnt1Gnurg%3D 12237282
23. MC King JH Marks JB Mandell 2003 Breast and ovarian cancer risks due to inherited mutations in brca1 and brca2 Science 302 5645 643 646 10.1126/science.1088759302/5645/643 1:CAS:528:DC%2BD3sXotlWqt7Y%3D 10.1126/science.1088759 14576434
24. EB Claus S Petruzella E Matloff D Carter 2005 Prevalence of brca1 and brca2 mutations in women diagnosed with ductal carcinoma in situ JAMA 293 8 964 969 293/8/964 1:CAS:528:DC%2BD2MXhsFGhuro%3D 10.1001/jama.293.8.964 15728167 (Pubitemid 40271128)