Two truncating variants in FANCC and breast cancer risk
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Fecha
2019-08-29Autor(es)
Dörk, ThiloMannermaa, Arto
Bolla, Manjeet
Wang, Qin
Dennis, Joe
Ahearn, Thomas
Andrulis, Irene
Culver, Hoda Anton
Arndt, Volker
Aronson, Kristan J
Augustinsson, Annelie
Beane Freeman, Laura E.
Beckmann, Matthias
Beeghly Fadiel, Alicia
Behrens, Sabine
Bermisheva, Marina
Blomqvist, Carl
Bogdanova, Natalia
Bojesen, Stig
Brauch, Hiltrud
Brenner, Hermann
Burwinkel, Barbara
Canzian, Federico
Chan, Tsun
Claude, Jenny Chang
Chanock, Stephen
Choi, Ji-Yeob
Christiansen, Hans
Clarke, Christine
Couch, Fergus
Czene, Kamila
Daly, Mary
dos Santos Silva, Isabel
Dwek, Miriam
Eccles, Diana
Ekici, Arif
Eriksson, Mikael
Evans, D. Gareth
Fasching, Peter
Figueroa, Jonine
Flyger, Henrik
Fritschi, Lin
Gabrielson, Marike
Gago Dominguez, Manuela
Gao, Chi
Gapstur, Susan
García Closas, Montserrat
García Sáenz, José Angel
Gaudet, Mia M.
Giles, Graham
Goldberg, Mark
Goldgar, David
Guénel, Pascal
Haeberle, Lothar
Haiman, Christopher
Håkansson, Niclas
Hall, Per
Hamann, Ute
Hartman, Mikael
Hauke, Jan
Hein, Alexander
Hillemanns, Peter
Hogervorst, Frans
Hooning, Maartje
Hopper, John
Howell, Tony
Huo, Dezheng
Ito, Hidemi
Iwasaki, Motoki
Jakubowska, Anna
Janni, Wolfgang
John, Esther
Jung, Audrey
Kaaks, Rudolf
Kang, Daehee
Middha Kapoor, Pooja
Khusnutdinova, Elza
Won Kim, Sung
Kitahara, Cari
Koutros, Stella
Kraft, Peter
Kristensen, Vessela
Kwong, Ava
Lambrechts, Diether
Marchand, Loic Le
Li, Jingmei
Lindström, Sara
Linet, Martha
Yee Lo, Wing
Long, Jirong
Lophatananon, Artitaya
Lubiński, Jan
Manoochehri, Mehdi
Manoukian, Siranoush
Margolin, Sara
Martinez, Elena
Matsuo, Keitaro
Mavroudis, Dimitris
Meindl, Alfons
Menon, Usha
Milne, Roger
Mohd Taib, Nur Aishah
Muir, Kenneth
Mulligan, Anna Marie
Neuhausen, Susan
Nevanlinna, Heli
Neven, Patrick
Newman, William
Offit, Kenneth
Olopade, Olufunmilayo
Olshan, Andrew
Olson, Janet
Olsson, Håkan
Park, Sue
Park Simon, Tjoung Won
Peto, Julian
Karanfilska, Dijana Plaseska
Rescigno, Esther Pohl
Presneau, Nadege
Rack, Brigitte
Radice, Paolo
Rashid, Muhammad
Rennert, Gad
Rennert, Hedy
Romero, Atocha
Ruebner, Matthias
Saloustros, Emmanouil
Schmidt, Marjanka
Schmutzler, Rita
Schneider, Michael
Schoemaker, Minouk
Scott, Christopher
Yang Shen, Chen
Ou Shu, Xiao
Simard, Jacques
Slager, Susan
Smichkoska, Snezhana
Southey, Melissa
Spinelli, John
Stone, Jennifer
Surowy, Harald
Swerdlow, Anthony
Tamimi, Rulla
Tapper, William
Teo, Soo
Terry, Mary Beth
Toland, Amanda
Tollenaar, Rob
Torres-López, Diana María
Torres Mejía, Gabriela
Troester, Melissa
Truong, Thérèse
Tsugane , Shoichiro
Untch, Michael
Vachon, Celine
van den Ouweland, Ans
van Veen, Elke
Vijai, Joseph
Wendt, Camilla
Wolk, Alicja
Yu, Jyh Cherng
Zheng, Wei
Ziogas, Argyrios
Ziv, Elad
ABCTB Investigators
NBCS Collaborators
Dunning, Alison
Pharoah, Paul
Schindler, Detlev
Devilee, Peter
Easton, Douglas
Peterlongo, Paolo
Autor(es) Corporativo(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Tipo
Artículo de revista
ISSN
2045-2322
Páginas
1 - 14
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Abstract
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95% CI 0.44-1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
Comunidad
Mujeres con Cáncer de mamaEnlace al recurso
https://www.nature.com/articles/s41598-019-48804-yFuente
Scientific Reports; Volumen 9 Número 1 (2019)
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