Two truncating variants in FANCC and breast cancer risk (Q92994868)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

title

Two truncating variants in FANCC and breast cancer risk (English)

1 reference

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2 May 2020

1

1 reference

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2 May 2020

Paolo Peterlongo

2

1 reference

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2 May 2020

Irene L Andrulis

8

1 reference

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2 May 2020

Volker Arndt

10

1 reference

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2 May 2020

Carl Blomqvist

18

1 reference

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2 May 2020

Hiltrud Brauch

21

1 reference

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2 May 2020

Miriam V Dwek

35

1 reference

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2 May 2020

Arif B. Ekici

37

1 reference

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2 May 2020

Gareth Evans

39

1 reference

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2 May 2020

Peter A. Fasching

40

1 reference

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2 May 2020

Jonine Figueroa

41

1 reference

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2 May 2020

Pascal Guénel

54

1 reference

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2 May 2020

Alexander Hein

62

1 reference

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2 May 2020

Hidemi Ito

69

1 reference

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2 May 2020

Anna Jakubowska

71

1 reference

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2 May 2020

Jingmei Li

87

1 reference

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2 May 2020

Keitaro Matsuo

98

1 reference

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2 May 2020

Usha Menon

101

1 reference

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2 May 2020

Roger L. Milne

102

1 reference

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2 May 2020

Kenneth Muir

104

1 reference

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2 May 2020

Heli Nevanlinna

107

1 reference

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2 May 2020

William G. Newman

109

1 reference

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2 May 2020

Håkan Olsson

114

1 reference

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2 May 2020

Julian Peto

117

1 reference

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2 May 2020

Paolo Radice

122

1 reference

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2 May 2020

Gad Rennert

124

1 reference

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2 May 2020

Atocha Romero

126

1 reference

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2 May 2020

Marjanka K Schmidt

129

1 reference

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2 May 2020

Christopher G. Scott

133

1 reference

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2 May 2020

Jennifer Stone

141

1 reference

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2 May 2020

Thérèse Truong

153

1 reference

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2 May 2020

Shoichiro Tsugane

154

1 reference

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2 May 2020

Argyrios Ziogas

164

1 reference

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2 May 2020

Alison Dunning

168

1 reference

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2 May 2020

Paul D P Pharoah

169

1 reference

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2 May 2020

Peter Devilee

171

1 reference

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2 May 2020

Douglas F. Easton

172

1 reference

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2 May 2020

86

Loic Le Marchand

1 reference

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2 May 2020

51

Graham G Giles

1 reference

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2 May 2020

43

Lin Fritschi

1 reference

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2 May 2020

100

Alfons Meindl

1 reference

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2 May 2020

31

Fergus J Couch

1 reference

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2 May 2020

110

Kenneth Offit

1 reference

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2 May 2020

Isabel dos Santos Silva

34

Isabel Dos-Santos-Silva

1 reference

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2 May 2020

42

Henrik Flyger

1 reference

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2 May 2020

83

Vessela N Kristensen

1 reference

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2 May 2020

143

Anthony J Swerdlow

1 reference

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2 May 2020

132

Minouk J Schoemaker

1 reference

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2 May 2020

58

Per Hall

1 reference

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2 May 2020

78

Elza Khusnutdinova

1 reference

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2 May 2020

112

Andrew F Olshan

1 reference

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2 May 2020

93

Jan Lubiński

1 reference

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2 May 2020

Gabriela Torres-Mejía

151

Gabriela Torres-Mejía

1 reference

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2 May 2020

108

Patrick Neven

1 reference

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2 May 2020

81

Stella Koutros

1 reference

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2 May 2020

50

Mia M Gaudet

1 reference

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2 May 2020

47

Susan M Gapstur

1 reference

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2 May 2020

13

Laura E Beane Freeman

1 reference

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2 May 2020

144

Rulla M Tamimi

1 reference

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2 May 2020

111

Olufunmilayo I Olopade

1 reference

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2 May 2020

170

Detlev Schindler

1 reference

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2 May 2020

137

Susan Slager

1 reference

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2 May 2020

53

David E Goldgar

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2 May 2020

33

Mary B Daly

1 reference

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2 May 2020

Hermann Brenner

22

1 reference

ORCID Public Data File 2021

Peter Hillemanns

63

Peter Hillemanns

1 reference

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2 May 2020

70

Motoki Iwasaki

1 reference

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2 May 2020

135

Xiao-Ou Shu

1 reference

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2 May 2020

163

Wei Zheng

1 reference

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2 May 2020

140

John J Spinelli

1 reference

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2 May 2020

27

Stephen J Chanock

1 reference

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2 May 2020

Christopher A. Haiman

56

Christopher A Haiman

1 reference

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2 May 2020

66

John L Hopper

1 reference

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2 May 2020

139

Melissa C Southey

1 reference

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2 May 2020

73

Esther M John

1 reference

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2 May 2020

19

Natalia V Bogdanova

1 reference

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2 May 2020

20

Stig E Bojesen

1 reference

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2 May 2020

36

Diana M Eccles

1 reference

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2 May 2020

Montserrat García-Closas

48

Montserrat García-Closas

1 reference

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2 May 2020

65

Maartje J Hooning

1 reference

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2 May 2020

113

Janet E Olson

1 reference

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2 May 2020

156

Celine M Vachon

1 reference

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2 May 2020

115

Sue K Park

1 reference

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2 May 2020

91

Jirong Long

1 reference

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2 May 2020

125

Hedy S Rennert

1 reference

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2 May 2020

Alicia Beeghly-Fadiel

15

Alicia Beeghly-Fadiel

1 reference

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2 May 2020

4

Manjeet K Bolla

1 reference

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2 May 2020

11

Kristan J Aronson

1 reference

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2 May 2020

16

Sabine Behrens

1 reference

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2 May 2020

29

Hans Christiansen

1 reference

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2 May 2020

167

NBCS Collaborators

1 reference

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2 May 2020

49

José A García-Sáenz

1 reference

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2 May 2020

52

Mark S Goldberg

1 reference

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2 May 2020

55

Lothar Haeberle

1 reference

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2 May 2020

72

Wolfgang Janni

1 reference

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2 May 2020

84

Ava Kwong

1 reference

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2 May 2020

103

Nur Aishah Mohd Taib

1 reference

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2 May 2020

120

Nadege Presneau

1 reference

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2 May 2020

121

Brigitte Rack

1 reference

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2 May 2020

127

Matthias Ruebner

1 reference

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2 May 2020

146

Soo H Teo

1 reference

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2 May 2020

149

Rob A E M Tollenaar

1 reference

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2 May 2020

Ans M W van den Ouweland

157

Ans M W van den Ouweland

1 reference

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2 May 2020

160

Camilla Wendt

1 reference

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2 May 2020

165

Elad Ziv

1 reference

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2 May 2020

166

ABCTB Investigators

1 reference

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2 May 2020

26

Jenny Chang-Claude

1 reference

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2 May 2020

Manuela Gago-Dominguez

45

Manuela Gago-Dominguez

1 reference

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2 May 2020

159

Joseph Vijai

1 reference

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2 May 2020

60

Mikael Hartman

1 reference

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2 May 2020

74

Audrey Jung

1 reference

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2 May 2020

17

Marina Bermisheva

1 reference

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2 May 2020

23

Barbara Burwinkel

1 reference

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2 May 2020

24

Federico Canzian

1 reference

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2 May 2020

30

Christine L Clarke

1 reference

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2 May 2020

38

Mikael Eriksson

1 reference

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2 May 2020

44

Marike Gabrielson

1 reference

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2 May 2020

57

Niclas Håkansson

1 reference

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2 May 2020

64

Frans B L Hogervorst

1 reference

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2 May 2020

75

Rudolf Kaaks

1 reference

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2 May 2020

80

Cari M Kitahara

1 reference

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2 May 2020

94

Mehdi Manoochehri

1 reference

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2 May 2020

95

Siranoush Manoukian

1 reference

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2 May 2020

96

Sara Margolin

1 reference

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2 May 2020

105

Anna Marie Mulligan

1 reference

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Rita Katharina Schmutzler

2 May 2020

130

Rita K Schmutzler

1 reference

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2 May 2020

138

Snezhana Smichkoska

1 reference

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2 May 2020

145

William J Tapper

1 reference

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2 May 2020

147

Mary Beth Terry

1 reference

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2 May 2020

152

Melissa A Troester

1 reference

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Dijana Plaseska-Karanfilska

2 May 2020

118

Dijana Plaseska-Karanfilska

1 reference

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2 May 2020

158

Elke M van Veen

1 reference

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2 May 2020

6

Joe Dennis

1 reference

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2 May 2020

155

Michael Untch

1 reference

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2 May 2020

128

Emmanouil Saloustros

1 reference

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2 May 2020

148

Amanda E Toland

1 reference

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2 May 2020

68

Dezheng Huo

1 reference

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2 May 2020

77

Pooja Middha Kapoor

1 reference

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2 May 2020

142

Harald Surowy

1 reference

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2 May 2020

89

Martha Linet

1 reference

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2 May 2020

32

Kamila Czene

1 reference

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2 May 2020

28

Ji-Yeob Choi

1 reference

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2 May 2020

106

Susan L Neuhausen

1 reference

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2 May 2020

Artitaya Lophatananon

92

Artitaya Lophatananon

1 reference

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2 May 2020

119

Esther Pohl-Rescigno

1 reference

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2 May 2020

82

Peter Kraft

1 reference

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2 May 2020

88

Sara Lindström

1 reference

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2 May 2020

12

Annelie Augustinsson

1 reference

2 May 2020

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3

Arto Mannermaa

1 reference

2 May 2020

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161

Alicja Wolk

1 reference

2 May 2020

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Qin Wang

5

1 reference

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2 May 2020

Thomas Ahearn

7

1 reference

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2 May 2020

Hoda Anton-Culver

9

1 reference

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2 May 2020

Matthias W Beckmann

14

1 reference

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2 May 2020

Tsun L Chan

25

1 reference

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2 May 2020

Chi Gao

46

1 reference

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2 May 2020

Ute Hamann

59

1 reference

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2 May 2020

Jan Hauke

61

1 reference

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2 May 2020

Tony Howell

67

1 reference

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2 May 2020

Daehee Kang

76

1 reference

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2 May 2020

Sung-Won Kim

79

1 reference

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2 May 2020

Diether Lambrechts

85

1 reference

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2 May 2020

Wing-Yee Lo

90

1 reference

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2 May 2020

Elena Martinez

97

1 reference

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2 May 2020

Dimitris Mavroudis

99

1 reference

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2 May 2020

Tjoung-Won Park-Simon

116

1 reference

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2 May 2020

Muhammad U Rashid

123

1 reference

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2 May 2020

Michael O Schneider

131

1 reference

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2 May 2020

Chen-Yang Shen

134

1 reference

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2 May 2020

Jacques Simard

136

1 reference

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2 May 2020

Diana Torres

150

1 reference

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2 May 2020

Jyh-Cherng Yu

162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

publication date

29 August 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

page(s)

12524

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

Fanconi anaemia and cancer: an intricate relationship.

2 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Association analysis identifies 65 new breast cancer risk loci.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

The Fanconi anaemia pathway: new players and new functions

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Hereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patients

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Heterozygous mutations in DNA repair genes and hereditary breast cancer: a question of power

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Rare germline mutations in PALB2 and breast cancer risk: a population-based study

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

A PALB2 mutation associated with high risk of breast cancer

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

PALB2 mutations in German and Russian patients with bilateral breast cancer

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Mutational analysis of FANCL , FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

A recurrent mutation in PALB2 in Finnish cancer families.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Evaluation of Fanconi Anemia genes in familial breast cancer predisposition

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Mutation analysis of the Fanconi anemia gene FACC

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Genetic mapping of the FACC gene and linkage analysis in Fanconi anaemia families

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Reassessment of cancer predisposition of Fanconi anemia heterozygotes.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Fanconi's anemia. A family study with 20-year follow-up including associated breast pathology

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Fanconi's Anaemia in the Genetics of Neoplasia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

Cloning of cDNAs for Fanconi's anaemia by functional complementation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6715680

10.1038/S41598-019-48804-Y

11 February 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31467304%20AND%20SRC:MED&resulttype=core&format=json

2 May 2020

1 reference