-
Nicholas
Gay,
Carol
Robinson,
Alice
Chen,
N.
Schnarr,
David
Cane,
C.
Reynolds,
M.
Trent,
Russell
Bishop,
S.
Lehnart
(2007)
Why Do We Still Have a Maternally Inherited Mitochondrial DNA ? Insights from Evolutionary Medicine
-
B.
Ponder,
A.
Antoniou,
A.
Dunning,
D.
Easton,
Paul
Pharoah
(2005)
Polygenic inherited predisposition to breast cancer.
Cold Spring Harbor symposia on quantitative biology, 70
-
N.
Rahman,
Michael
Stratton
(1998)
The genetics of breast cancer susceptibility.
Annual review of genetics, 32
-
R.
Williams,
Megan
Lee,
D.
Hau,
J.
Glover
(2006)
Structural basis of phospho-peptide recognition by the BRCT domain of BRCA 1
-
N.
Ellis
(1997)
DNA helicases in inherited human disorders.
Current opinion in genetics & development, 7 3
-
R.
Litman,
Min
Peng,
Zhe-Long
Jin,
Fan
Zhang,
Junran
Zhang,
S.
Powell,
P.
Andreassen,
Sharon
Cantor
(2005)
BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.
Cancer cell, 8 3
-
J.
Struewing,
P.
Hartge,
S.
Wacholder,
Sonya
Baker,
M.
Berlin,
M.
McAdams,
Michelle
Timmerman,
L.
Brody,
M.
Tucker
(1997)
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.
The New England journal of medicine, 336 20
-
Xiaochun
Yu,
C.
Chini,
M.
He,
G.
Mer,
Junjie
Chen
(2003)
The BRCT Domain Is a Phospho-Protein Binding Domain
Science, 302
-
Laure
Perrin-Vidoz,
O.
Sinilnikova,
D.
Stoppa-Lyonnet,
G.
Lenoir,
S.
Mazoyer
(2002)
The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.
Human molecular genetics, 11 23
-
Min
Peng,
R.
Litman,
Jenny
Xie,
Sudha
Sharma,
R.
Brosh,
Sharon
Cantor
(2007)
The FANCJ/MutLα interaction is required for correction of the cross‐link response in FA‐J cells
The EMBO Journal, 26
-
V.
Wreesmann,
C.
Estilo,
D.
Eisele,
Bhuvanesh
Singh,
Steven
Wang
(2007)
Downregulation of Fanconi Anemia Genes in Sporadic Head and Neck Squamous Cell Carcinoma
ORL, 69
-
A.
Antoniou,
P.
Pharoah,
Greg
McMullan,
Nickolas
Day,
B.
Ponder,
D.
Easton
(2001)
Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population‐based study
Genetic Epidemiology, 21
-
Wendy
Bridge,
C.
Vandenberg,
R.
Franklin,
K.
Hiom
(2005)
The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair
Nature Genetics, 37
-
I.
Hickson
(2003)
RecQ helicases: caretakers of the genome
Nature Reviews Cancer, 3
-
The
Consortium
(2002)
Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations
Nature Genetics, 31
-
A.
Renwick,
Deborah
Thompson,
S.
Seal,
P.
Kelly,
T.
Chagtai,
Munaza
Ahmed,
B.
North,
H.
Jayatilake,
R.
Barfoot,
Katarina
Spanova,
L.
McGuffog,
D.
Evans,
D.
Eccles,
D.
Easton,
M.
Stratton,
N.
Rahman,
The
Collaboration
(2006)
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
Nature Genetics, 38
-
H.
Kuzmiak,
L.
Maquat
(2006)
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
Trends in molecular medicine, 12 7
-
H.
Erkko,
B.
Xia,
J.
Nikkilä,
J.
Schleutker,
K.
Syrjäkoski,
A.
Mannermaa,
A.
Kallioniemi,
K.
Pylkäs,
S.
Karppinen,
K.
Rapakko,
A.
Miron,
Qing
Sheng,
Guilan
Li,
Henna
Mattila,
D.
Bell,
D.
Haber,
Mervi
Grip,
M.
Reiman,
A.
Jukkola-Vuorinen,
A.
Mustonen,
J.
Kere,
L.
Aaltonen,
V.
Kosma,
V.
Kataja,
Y.
Soini,
R.
Drapkin,
D.
Livingston,
R.
Winqvist
(2007)
A recurrent mutation in PALB2 in Finnish cancer families
Nature, 446
-
L.
Luo,
Haixin
Lei,
Q.
Du,
A.
Wachenfeldt,
I.
Kockum,
H.
Luthman,
I.
Vořechovský,
A.
Lindblom
(2002)
No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast‐cancer families linked to 17q22
International Journal of Cancer, 98
-
A.
Brabant,
Rodica
Stan,
Nathan
Ellis
(2000)
DNA helicases, genomic instability, and human genetic disease.
Annual review of genomics and human genetics, 1
-
Carl
Maki,
Peter
Howley
(1997)
Ubiquitination of p53 and p21 is differentially affected by ionizing and UV radiation
Molecular and Cellular Biology, 17
-
Sharon
Cantor,
R.
Drapkin,
Fan
Zhang,
Yafang
Lin,
Juliana
Han,
S.
Pamidi,
D.
Livingston
(2004)
The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.
Proceedings of the National Academy of Sciences of the United States of America, 101 8
-
E.
Shiozaki,
L.
Gu,
N.
Yan,
Yigong
Shi
(2004)
Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling.
Molecular cell, 14 3
-
Julie
Clapperton,
Isaac
Manke,
Drew
Lowery,
T.
Ho,
L.
Haire,
M.
Yaffe,
S.
Smerdon
(2004)
Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer
Nature Structural &Molecular Biology, 11
-
R.
Scully,
S.
Ganesan,
M.
Brown,
J.
Caprio,
S.
Cannistra,
J.
Feunteun,
S.
Schnitt,
D.
Livingston,
Y.
Chen,
P.-L.
Chen,
D.
Riley,
W.-H.
Lee,
D.
Allred,
C.
Osborne
(1996)
Location of BRCA1 in Human Breast and Ovarian Cancer Cells
Science, 272
-
K.
Heikkinen,
K.
Rapakko,
S.
Karppinen,
H.
Erkko,
S.
Knuutila,
T.
Lundán,
A.
Mannermaa,
A.
Børresen-Dale,
Å.
Borg,
R.
Barkardottir,
J.
Petrini,
R.
Winqvist
(2005)
RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.
Carcinogenesis, 27 8
-
Claus
Jørgensen,
R.
Petersen,
P.
Hallenborg,
R.
Matteis,
H.
Bøye,
N.
Petrovic,
S.
Enerbäck
(2004)
The BRCA 1-associated protein BACH 1 is a DNA helicase targeted by clinically relevant inactivating mutations
-
O.
Levran,
C.
Attwooll,
R.
Henry,
K.
Milton,
K.
Neveling,
P.
Río,
S.
Batish,
R.
Kalb,
E.
Velleuer,
S.
Barral,
J.
Ott,
J.
Petrini,
D.
Schindler,
H.
Hanenberg,
A.
Auerbach
(2005)
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Nature Genetics, 37
-
R.
Williams,
Megan
Lee,
D.
Hau,
J.
Glover
(2004)
Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1
Nature Structural &Molecular Biology, 11
-
A.
Antoniou,
D.
Easton
(2006)
Models of genetic susceptibility to breast cancer
Oncogene, 25
-
Sharon
Cantor,
D.
Bell,
S.
Ganesan,
Elizabeth
Kass,
R.
Drapkin,
S.
Grossman,
D.
Wahrer,
D.
Sgroi,
William
Lane,
D.
Haber,
D.
Livingston
(2001)
BACH1, a Novel Helicase-like Protein, Interacts Directly with BRCA1 and Contributes to Its DNA Repair Function
Cell, 105
-
D.
Ford,
D.
Easton,
Michael
Stratton,
S.
Narod,
D.
Goldgar,
P.
Devilee,
D.
Bishop,
B.
Weber,
G.
Lenoir,
J.
Chang-Claude,
H.
Sobol,
M.
Teare,
J.
Struewing,
A.
Arason,
S.
Scherneck,
J.
Peto,
T.
Rebbeck,
P.
Tonin,
S.
Neuhausen,
R.
Barkardottir,
J.
Eyfjord,
H.
Lynch,
B.
Ponder,
S.
Gayther,
J.
Birch,
A.
Lindblom,
D.
Stoppa-Lyonnet,
Y.
Bignon,
Å.
Borg,
U.
Hamann,
N.
Haites,
Rodney
Scott,
C.
Maugard,
H.
Vasen,
S.
Seitz,
L.
Cannon-Albright,
A.
Schofield,
M.
Zelada-Hedman
(1998)
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
American journal of human genetics, 62 3
-
S.
Reid,
D.
Schindler,
H.
Hanenberg,
K.
Barker,
S.
Hanks,
R.
Kalb,
K.
Neveling,
P.
Kelly,
S.
Seal,
M.
Freund,
M.
Wurm,
S.
Batish,
Francis
Lach,
S.
Yetgin,
H.
Neitzel,
H.
Ariffin,
M.
Tischkowitz,
C.
Mathew,
A.
Auerbach,
N.
Rahman
(2007)
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Nature Genetics, 39
-
T.
Walsh,
M.
King
(2007)
Ten genes for inherited breast cancer.
Cancer cell, 11 2
-
Jiu
Cheng,
P.
Belgrader,
Xianbo
Zhou,
Lynne
Maquat
(1994)
Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance
Molecular and Cellular Biology, 14
-
B.
Xia,
J.
Dorsman,
N.
Ameziane,
Y.
Vries,
M.
Rooimans,
Qing
Sheng,
G.
Pals,
A.
Errami,
E.
Gluckman,
Julián
Llera,
Weidong
Wang,
D.
Livingston,
H.
Joenje,
J.
Winter
(2007)
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Nature Genetics, 39
-
R.
Callahan
(1998)
Somatic mutations that contribute to breast cancer.
Biochemical Society symposium, 63
-
S.
Seal,
Deborah
Thompson,
A.
Renwick,
Anna
Elliott,
P.
Kelly,
R.
Barfoot,
T.
Chagtai,
H.
Jayatilake,
Munaza
Ahmed,
Katarina
Spanova,
B.
North,
L.
McGuffog,
D.
Evans,
D.
Eccles,
D.
Easton,
M.
Stratton,
N.
Rahman,
The
Collaboration
(2006)
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
Nature Genetics, 38
-
J.
Karow,
Leonard
Wu,
I.
Hickson
(2000)
RecQ family helicases: roles in cancer and aging.
Current opinion in genetics & development, 10 1
-
Eszter
Nagy,
L.
Maquat
(1998)
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance.
Trends in biochemical sciences, 23 6
-
Xiaochun
Yu,
C.
Chini,
Miao
He,
Georges
Mer,
Junjie
Chen
The BRCT Domain Is a PhosphoProtein Binding Domain
-
P.
Vahteristo,
Kristiina
Yliannala,
A.
Tamminen,
H.
Eerola,
C.
Blomqvist,
H.
Nevanlinna
(2006)
BACH1 Ser919Pro variant and breast cancer risk
BMC Cancer, 6
-
J.
Rutter,
Amelia
Smith,
Michael
Dávila,
A.
Sigurdson,
R.
Giusti,
M.
Pineda,
M.
Doody,
M.
Tucker,
M.
Greene,
Jinghui
Zhang,
J.
Struewing
(2003)
Mutational analysis of the BRCA1‐interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2‐negative probands from breast‐ovarian cancer families and among early‐onset breast cancer cases and reference individuals
Human Mutation, 22
-
S.
Karppinen,
J.
Vuosku,
K.
Heikkinen,
M.
Allinen,
R.
Winqvist
(2003)
No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families.
European journal of cancer, 39 3
-
N.
Howlett,
T.
Taniguchi,
S.
Olson,
B.
Cox,
Q.
Waisfisz,
C.
Die-Smulders,
N.
Persky,
M.
Grompe,
H.
Joenje,
G.
Pals,
H.
Ikeda,
E.
Fox,
A.
D’Andrea
(2002)
Biallelic Inactivation of BRCA2 in Fanconi Anemia
Science, 297
-
L.
Arbour,
Catherine
Bonaı¨ti-Pellie´,
L.
Cannon-Albright,
A.
Chompret,
T.
Cole,
C.
Dhooge,
W.
Dupuis,
A.
Foot,
W.
Foulkes,
Hazel
Galvin,
M.
Gerrard,
A.
Gnekow,
N.
Graf,
D.
King,
J.
Kingston,
Janice
Kohler,
G.
Levitt,
I.
Lewis,
A.
O'meara,
F.
Millot,
B.
Pizer,
Helen
Price,
P.
Pujol,
B.
Royer-Pokora,
V.
Schumacher,
C.
Schwartz,
R.
Shannon,
E.
Sheridan,
J.
Skeen,
P.
Tonin,
Gordon
Vujanic,
A.
Weirich,
Dr
Rahman
(2005)
Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour
Journal of Medical Genetics, 42
-
Anglian
Group
(2000)
Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases
British Journal of Cancer, 83
-
P.
Aretini,
E.
D'andrea,
B.
Pasini,
A.
Viel,
R.
Costantini,
L.
Cortesi,
E.
Ricevuto,
S.
Agata,
R.
Bisegna,
M.
Boiocchi,
M.
Caligo,
L.
Chieco‐Bianchi,
G.
Cipollini,
R.
Crucianelli,
C.
D'amico,
M.
Federico,
C.
Ghimenti,
C.
Giacomi,
A.
Nicolo,
L.
Puppa,
S.
Ferrari,
C.
Ficorella,
D.
Iandolo,
S.
Manoukian,
P.
Marchetti,
F.
Marroni,
C.
Menin,
M.
Montagna,
L.
Ottini,
V.
Pensotti,
M.
Pierotti,
P.
Radice,
M.
Santarosa,
V.
Silingardi,
D.
Turchetti,
G.
Bevilacqua,
S.
Presciuttini
(2003)
Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation
Breast Cancer Research and Treatment, 81
-
J.
Fackenthal,
O.
Olopade
(2007)
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
Nature Reviews Cancer, 7
-
N.
Rahman,
S.
Seal,
D.
Thompson,
P.
Kelly,
A.
Renwick,
Anna
Elliott,
S.
Reid,
Katarina
Spanova,
R.
Barfoot,
T.
Chagtai,
H.
Jayatilake,
L.
McGuffog,
S.
Hanks,
D.
Evans,
D.
Eccles,
D.
Easton,
Michael
Stratton
(2007)
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Nature Genetics, 39
-
T.
Taniguchi,
A.
D’Andrea
(2006)
Molecular pathogenesis of Fanconi anemia: recent progress.
Blood, 107 11
-
A.
Knudson
(1971)
Mutation and cancer: statistical study of retinoblastoma.
Proceedings of the National Academy of Sciences of the United States of America, 68 4
-
M.
García-Closas,
K.
Egan,
P.
Newcomb,
L.
Brinton,
L.
Titus-Ernstoff,
S.
Chanock,
R.
Welch,
J.
Lissowska,
B.
Pepłońska,
N.
Szeszenia‐Da̧browska,
W.
Zatoński,
A.
Bardin-Mikolajczak,
J.
Struewing
(2006)
Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses
Human Genetics, 119
-
S.
Thorlacius,
J.
Struewing,
Patricia
Hartage,
G.
Olafsdóttir,
H.
Sigvaldason,
L.
Tryggvadottir,
S.
Wacholder,
H.
Tulinius,
J.
Eyfjörd
(1998)
Population-based study of risk of breast cancer in carriers of BRCA2 mutation
The Lancet, 352
-
M.
Levitus,
Q.
Waisfisz,
B.
Godthelp,
Y.
Vries,
S.
Hussain,
W.
Wiegant,
Elhaam
Elghalbzouri-Maghrani,
Jûrgen
Steltenpool,
M.
Rooimans,
G.
Pals,
F.
Arwert,
C.
Mathew,
M.
Zdzienicka,
K.
Hiom,
J.
Winter,
H.
Joenje
(2005)
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
Nature Genetics, 37
-
A.
Sigurdson,
M.
Hauptmann,
N.
Chatterjee,
B.
Alexander,
M.
Doody,
J.
Rutter,
J.
Struewing
(2004)
Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes
BMC Cancer, 4
