Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)

Clinical and Translational Oncology

Volumn 16, Issue 3, 2014, Pages 280-284

  Andres R ^a   Pajares, I ^a   Balmana J ^b   Llort, G ^c   Ramon Y Cajal T ^d   Chirivella, I ^e   Aguirre, E ^f   Robles, L ^g   Lastra, E ^h   Perez Segura P ⁱ   Bosch, N ^b   Yague C ^c   Lerma, E ^d   Godino, J ^j   Miramar, M D ^k   Moros, M ^a   Astier, P ^l   Saez, B ^j   Vidal, M J ^b   Arcusa, A ^c   Ramon Y Cajal S ^a   Calvo, M T ^k   Tres, A ^a   more..

^a HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c Instituto Oncológic Del Vallés   (Spain)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^f HOSPITAL ARNAU DE VILANOVA   (Spain)

^g HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^h HOSPITAL UNIVERSITARIO DE BURGOS   (Spain)

ⁱ HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^j INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^k HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^l Aragon Health Service   (Spain)

more..

Author keywords

BRCA1; Hereditary breast cancer; Triple negative breast cancer

Indexed keywords

BRCA1 PROTEIN;

ADULT; AGE; ARTICLE; FAMILY HISTORY; FEMALE; GENE MUTATION; GERM LINE; GERMLINE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PHENOTYPE; RETROSPECTIVE STUDY; TRIPLE NEGATIVE BREAST CANCER;

ADULT; AGE OF ONSET; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, BRCA1; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; RETROSPECTIVE STUDIES; TRIPLE NEGATIVE BREAST NEOPLASMS;

EID: 84896722620     PISSN: 1699048X     EISSN: 16993055     Source Type: Journal    
DOI: 10.1007/s12094-013-1070-9     Document Type: Article

References (23)

1. Mavaddat N, Rebbeck TR, Lakhani SR, Eaton DF, Antoniou AC. Incorporating tumour pathology information into breast cancer risk prediction algorithms. Breast Cancer Res. 2010;12(3):R28.
2. James PA, Doherty R, Harris M, Mukesh BN, Milner A, Young MA, et al. Optimal selection of individuals for BRCA mutation testing: a comparison of available methods. J Clin Oncol. 2006;24(4):707-15.
3. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cáncer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998;62(3):676-89.
4. Palacios J, Honrado E, Osorio A, Cazorla A, Sarrió D, Barroso A, et al. Phenotypic characterization of BRCA1 y BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers. Breast Cancer Res Treat. 2005;90(1):5-14.
5. Eerola H, Heikkilä P, Tamminen A, Aittomäki K, Blomqvist C, Nevanlinna H, et al. Histopathological features of breast tumor in BRCA1, BRCA2 and mutation-negative breast cancer families. Breast Cancer Res. 2005;7(1):R93-100.
6. Foulkes WD, Stefansson IM, Chappuis PO, Bégin LR, Goffin JR, Wong N, et al. Germinale BRCA1 mutations and basal epithelial phenotype breast cancer. J Natl Cancer Inst. 2003;95(19):482-5.
7. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res. 2005;14:5175-80.
8. Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, et al. Estrogen receptor status in BRCA1 and BRCA2 related breast cancer: the influence of age, grade and histological type. Clin Cancer Res. 2004;10(6):2029-34.
9. Eerola H, Heikkilä P, Tamminen A, Aittomäki K, Blomqvist C, Nevanlinna H. Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families. Breast Cancer Res. 2005;7(4):R465-9.
10. Vaziri SA, Krumroy LM, Elson P, Budd GT, Darlington G, Myles J, et al. Breast tumor immunophenotype of BRCA1-mutation carriers is influenced by age at diagnosis. Clin Cancer Res. 2001;7(7):1937-45.
11. Lidereau R, Eisinger F, Champeme MH, Budd GT, Darlington G, Myles J, et al. Major improvement in the efficacy of BRCA1 mutation screening using morphoclinical features of breast cancer. Cancer Res. 2000;60(5):1206-10.
12. Chang J, Hilsenbeck SG, Sng JH, Wong J, Ragu GC. Pathological features and BRCA1 mutation screening in premenopausal breast cancer patients. Clin Cancer Res. 2001;7(6):1739-41.
13. Young SR, Pilarski RT, Donenberg T, Shapiro C, Hammond LS, Miller J, et al. The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer. 2009;19(9):86.
14. Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA. 2007;297:2587-95.
15. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet. 1994;8(4):392-8.
16. Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol. 2002;20(9):2310-8.
17. Farshid G, Balleine RL, Cummings M, Waring P. Morphology of breast cancer as a means of triage of patients for BRCA1 genetic testing. Am J Surg Pathol. 2006;30(11):1357-66.
18. Eisinger F, Nogues C, Guinebretiere JM, Peyrat JP, Bardou VJ, Noguchi T, et al. Novel indications for BRCA1 screening using individual clinical and morphological features. Int J Cancer. 1999;84(3):263-7.
19. Robertson L, Hanson H, Seal S, Warren-Perry M, Hughes D, Howell I, et al. BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 year. Br J Cancer. 2012;106:1234-8.
20. Hartman AR, Kaldate RR, Sailer LM, Painter L, Grier CE, Endsley RR, et al. Prevalence of BRCA Mutations in an Unselected Population of Triple-Negative Breast Cancer. Cancer. 2012;118(11):2787-95.
21. Kwon JS, Gutierrez-Barrera AM, Young D, Sun CC, Daniels MS, Lu KH, et al. Expanding the criteria for BRCA mutation testing in breast cancer survivors. J Clin Oncol. 2010;28(27):4214-20.
22. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res. 2005;11(14):5175-80.
23. Collins LC, Martyniak A, Kandel MJ, Stadler ZK, Masciari S, Miron A, et al. Basal cytokeratin and epidermal growth factor receptor expression are not predictive of BRCA1 mutation status in women with triple-negative breast cancers. Am J Surg. 2009;33(7):1093-7.