Fanconi anemia and breast cancer susceptibility meet again

被引：43

作者：

Levy-Lahad, Ephrat ^{[1
]}

机构：

[1] Hebrew Univ Jerusalem, Shaare Zedek Med Ctr, Inst Med Genet, Jerusalem, Israel

来源：

NATURE GENETICS | 2010年 / 42卷 / 05期

关键词：

BIALLELIC MUTATIONS; HELICASE BRIP1; REPAIR; PALB2; PROTEIN; BRCA2;

D O I：

10.1038/ng0510-368

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A new study reports biallelic mutations in RAD51C in a Fanconi anemia-like disorder, while a second study reports monoallelic mutations in the same gene associated with increased breast cancer risk. These findings strengthen the link between Fanconi anemia and breast cancer-associated pathways.

引用

页码：368 / 369

页数：3

共 15 条

[1] Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2 [J].

Alter, Blanche P. ;

Rosenberg, Philip S. ;

Brody, Lawrence C. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (01) :1-9

[2] RAD51C facilitates checkpoint signaling by promoting CHK2 phosphorylation [J].

Badie, Sophie ;

Liao, Chunyan ;

Thanasoula, Maria ;

Barber, Paul ;

Hill, Mark A. ;

Tarsounas, Madalena .

JOURNAL OF CELL BIOLOGY, 2009, 185 (04) :587-600

[3] BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function [J].

Cantor, SB ;

Bell, DW ;

Ganesan, S ;

Kass, EM ;

Drapkin, R ;

Grossman, S ;

Wahrer, DCR ;

Sgroi, DC ;

Lane, WS ;

Haber, DA ;

Livingston, DM .

CELL, 2001, 105 (01) :149-160

[4] Biallelic inactivation of BRCA2 in Fanconi anemia [J].

Howlett, NG ;

Taniguchi, T ;

Olson, S ;

Cox, B ;

Waisfisz, Q ;

de Die-Smulders, C ;

Persky, N ;

Grompe, M ;

Joenje, H ;

Pals, G ;

Ikeda, H ;

Fox, EA ;

D'Andrea, AD .

SCIENCE, 2002, 297 (5581) :606-609

[5] The Fanconi Anemia Pathway Promotes Replication-Dependent DNA Interstrand Cross-Link Repair [J].

Knipscheer, Puck ;

Raeschle, Markus ;

Smogorzewska, Agata ;

Enoiu, Milica ;

Ho, The Vinh ;

Schaerer, Orlando D. ;

Elledge, Stephen J. ;

Walter, Johannes C. .

SCIENCE, 2009, 326 (5960) :1698-1701

[6] The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J [J].

Levitus, M ;

Waisfisz, Q ;

Godthelp, BC ;

de Vries, Y ;

Hussain, S ;

Wiegant, WW ;

Elghalbzouri-Maghrani, E ;

Steltenpool, J ;

Rooimans, MA ;

Pals, G ;

Arwert, F ;

Mathew, CG ;

Zdzienicka, MZ ;

Hiom, K ;

De Winter, JP ;

Joenje, H .

NATURE GENETICS, 2005, 37 (09) :934-935

[7] The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia [J].

Levran, O ;

Attwooll, C ;

Henry, RT ;

Milton, KL ;

Neveling, K ;

Rio, P ;

Batish, SD ;

Kalb, R ;

Velleuer, E ;

Barral, S ;

Ott, J ;

Petrini, J ;

Schindler, D ;

Hanenberg, H ;

Auerbach, AD .

NATURE GENETICS, 2005, 37 (09) :931-933

[8] Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene [J].

Meindl, Alfons ;

Hellebrand, Heide ;

Wiek, Constanze ;

Erven, Verena ;

Wappenschmidt, Barbara ;

Niederacher, Dieter ;

Freund, Marcel ;

Lichtner, Peter ;

Hartmann, Linda ;

Schaal, Heiner ;

Ramser, Juliane ;

Honisch, Ellen ;

Kubisch, Christian ;

Wichmann, Hans E. ;

Kast, Karin ;

Deissler, Helmut ;

Engel, Christoph ;

Mueller-Myhsok, Bertram ;

Neveling, Kornelia ;

Kiechle, Marion ;

Mathew, Christopher G. ;

Schindler, Detlev ;

Schmutzler, Rita K. ;

Hanenberg, Helmut .

NATURE GENETICS, 2010, 42 (05) :410-U65

[9] How the Fanconi Anemia Pathway Guards the Genome [J].

Moldovan, George-Lucian ;

D'Andrea, Alan D. .

ANNUAL REVIEW OF GENETICS, 2009, 43 :223-249

[10] Fanconi anemia and breast cancer susceptibility [J].

Patel, Ketan J. .

NATURE GENETICS, 2007, 39 (02) :142-143

← 1 2 →