Pathology of hereditary breast cancer

被引：62

作者：

Da Silva, Leonard ^{[1
]}

Lakhani, Sunil R. ^{[1
]}

机构：

[1] Univ Queensland, Clin Res Ctr, Royal Brisbane & Womens Hosp, Brisbane, Qld 4029, Australia

来源：

MODERN PATHOLOGY | 2010年 / 23卷

关键词：

BRCA1; BRCA2; BRCAX; breast; hereditary cancer; BASAL EPITHELIAL PHENOTYPE; BRCA2 MUTATION CARRIERS; DNA-REPAIR DEFECT; SUSCEPTIBILITY GENE; ESTROGEN-RECEPTOR; IMMUNOHISTOCHEMICAL MARKERS; TISSUE MICROARRAY; CHEK2; GENE; TUMORS; EXPRESSION;

D O I：

10.1038/modpathol.2010.37

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Patients with germline mutations in BRCA1 or BRCA2 genes are predisposed to breast cancer. The BRCA1-associated breast cancers have distinct morphology, being more often medullary-like, triple negative and showing a 'basal' phenotype. On the other hand, BRCA2 and BRCAX cancers are a heterogeneous group without a specific phenotype. When incorporated into risk assessment models, pathology data improves prediction of carrier status. The role of BRCA1 and BRCA2 in DNA repair is being exploited to develop novel therapies, for example, using the poly-ADP-ribose polymerase inhibitors. A number of low-to-moderate-penetrant genes/loci have also been identified, but their role and contribution in breast cancer development is still under investigation. Modern Pathology (2010) 23, S46-S51; doi:10.1038/modpathol.2010.37

引用

页码：S46 / S51

页数：6

共 57 条

[11] Basal Cytokeratin and Epidermal Growth Factor Receptor Expression Are Not Predictive of BRCA1 Mutation Status in Women With Triple-negative Breast Cancers [J].

Collins, Laura C. ;

Martyniak, Anthony ;

Kandel, Michaela J. ;

Stadler, Zsofia K. ;

Masciari, Serena ;

Miron, Alexander ;

Richardson, Andrea L. ;

Schnitt, Stuart J. ;

Garber, Judy E. .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2009, 33 (07) :1093-1097

[12] Estrogen receptor status in CHEK2-positive breast cancers: implications for chemoprevention [J].

Cybulski, C. ;

Huzarski, T. ;

Byrski, T. ;

Gronwald, J. ;

Debniak, T. ;

Jakubowska, A. ;

Gorski, B. ;

Wokolorczyk, D. ;

Masojc, B. ;

Narod, S. A. ;

Lubinski, J. .

CLINICAL GENETICS, 2009, 75 (01) :72-78

[13]

EASTON D, 1993, CANCER SURV, V18, P95

[14] Genome-wide association study identifies novel breast cancer susceptibility loci [J].

Easton, Douglas F. ;

Pooley, Karen A. ;

Dunning, Alison M. ;

Pharoah, Paul D. P. ;

Thompson, Deborah ;

Ballinger, Dennis G. ;

Struewing, Jeffery P. ;

Morrison, Jonathan ;

Field, Helen ;

Luben, Robert ;

Wareham, Nicholas ;

Ahmed, Shahana ;

Healey, Catherine S. ;

Bowman, Richard ;

Meyer, Kerstin B. ;

Haiman, Christopher A. ;

Kolonel, Laurence K. ;

Henderson, Brian E. ;

Le Marchand, Loic ;

Brennan, Paul ;

Sangrajrang, Suleeporn ;

Gaborieau, Valerie ;

Odefrey, Fabrice ;

Shen, Chen-Yang ;

Wu, Pei-Ei ;

Wang, Hui-Chun ;

Eccles, Diana ;

Evans, D. Gareth ;

Peto, Julian ;

Fletcher, Olivia ;

Johnson, Nichola ;

Seal, Sheila ;

Stratton, Michael R. ;

Rahman, Nazneen ;

Chenevix-Trench, Georgia ;

Bojesen, Stig E. ;

Nordestgaard, Borge G. ;

Axelsson, Christen K. ;

Garcia-Closas, Montserrat ;

Brinton, Louise ;

Chanock, Stephen ;

Lissowska, Jolanta ;

Peplonska, Beata ;

Nevanlinna, Heli ;

Fagerholm, Rainer ;

Eerola, Hannaleena ;

Kang, Daehee ;

Yoo, Keun-Young ;

Noh, Dong-Young ;

Ahn, Sei-Hyun .

NATURE, 2007, 447 (7148) :1087-U7

[15] Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy [J].

Farmer, H ;

McCabe, N ;

Lord, CJ ;

Tutt, ANJ ;

Johnson, DA ;

Richardson, TB ;

Santarosa, M ;

Dillon, KJ ;

Hickson, I ;

Knights, C ;

Martin, NMB ;

Jackson, SP ;

Smith, GCM ;

Ashworth, A .

NATURE, 2005, 434 (7035) :917-921

[16] Morphology of breast cancer as a means of triage of patients for BRCA1 genetic testing [J].

Farshid, Gelareh ;

Balleine, Rosemary L. ;

Cummings, Margaret ;

Waring, Paul .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2006, 30 (11) :1357-1366

[17] The prognostic implication of the basal-like (cyclin Ehigh/p27low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer [J].

Foulkes, WD ;

Brunet, JS ;

Stefansson, IM ;

Straume, O ;

Chappuis, PO ;

Bégin, LR ;

Hamel, N ;

Goffin, JR ;

Wong, N ;

Trudel, M ;

Kapusta, L ;

Porter, P ;

Akslen, LA .

CANCER RESEARCH, 2004, 64 (03) :830-835

[18] Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer [J].

Foulkes, WD ;

Stefansson, IM ;

Chappuis, PO ;

Bégin, LR ;

Goffin, JR ;

Wong, N ;

Trudel, M ;

Akslen, LA .

JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2003, 95 (19) :1482-1485

[19] Low expression of bcl-2 in Brca1-associated breast cancers [J].

Freneaux, P ;

Stoppa-Lyonnet, D ;

Mouret, E ;

Kambouchner, M ;

Nicolas, A ;

Zafrani, B ;

Vincent-Salomon, A ;

Fourquet, A ;

Magdelenat, H ;

Sastre-Garau, X .

BRITISH JOURNAL OF CANCER, 2000, 83 (10) :1318-1322

[20] Basal-like grade III invasive ductal carcinoma of the breast: patterns of metastasis and long-term survival [J].

Fulford, Laura G. ;

Reis-Filho, Jorge S. ;

Ryder, Ken ;

Jones, Chris ;

Gillett, Cheryl E. ;

Hanby, Andrew ;

Easton, Douglas ;

Lakhani, Sunil R. .

BREAST CANCER RESEARCH, 2007, 9 (01)

← 1 2 3 4 5 6 →