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Two truncating variants in FANCC and breast cancer risk

Mannermaa, Arto ; Bolla, Manjeet K ; Dennis, Joe ; Ahearn, Thomas ; Andrulis, Irene L ; Anton-Culver, Hoda ; Arndt, Volker ; Aronson, Kristan J ; Augustinsson, Annelie ; Freeman, Laura E Beane ; Behrens, Sabine ; Bermisheva, Marina ; Blomqvist, Carl ; Bogdanova, Natalia V ; Brauch, Hiltrud ; Burwinkel, Barbara ; Choi, Ji-Yeob ; Couch, Fergus J ; Czene, Kamila ; Daly, Mary B ; Eccles, Diana M ; Ekici, Arif B ; Eriksson, Mikael ; Figueroa, Jonine ; Flyger, Henrik ; Fritschi, Lin ; Gabrielson, Marike ; Gapstur, Susan M ; García-Closas, Montserrat ; Giles, Graham G ; Goldberg, Mark S ; Goldgar, David E ; Haeberle, Lothar ; Håkansson, Niclas ; Hartman, Mikael ; Hauke, Jan ; Hein, Alexander ; Hillemanns, Peter ; Hogervorst, Frans B L ; Hooning, Maartje J ; Huo, Dezheng ; Ito, Hidemi ; Iwasaki, Motoki ; Jakubowska, Anna ; John, Esther M ; Jung, Audrey ; Kang, Daehee ; Kapoor, Pooja Middha ; Khusnutdinova, Elza ; Kim, Sung-Won ; Kitahara, Cari M ; Kwong, Ava ; Marchand, Loic Le ; Li, Jingmei ; Lindström, Sara ; Lo, Wing-Yee ; Long, Jirong ; Lubiński, Jan ; Manoukian, Siranoush ; Meindl, Alfons ; Menon, Usha ; Milne, Roger L ; Mohd Taib, Nur Aishah ; Mulligan, Anna Marie ; Nevanlinna, Heli ; Neven, Patrick ; Olshan, Andrew F ; Olson, Janet E ; Park, Sue K ; Plaseska-Karanfilska, Dijana ; Presneau, Nadege ; Rack, Brigitte ; Radice, Paolo ; Rashid, Muhammad U ; Rennert, Hedy S ; Romero, Atocha ; Ruebner, Matthias ; Schmidt, Marjanka K ; Schmutzler, Rita K ; Scott, Christopher ; Simard, Jacques ; Slager, Susan ; Smichkoska, Snezhana ; Southey, Melissa C ; Stone, Jennifer ; Surowy, Harald ; Swerdlow, Anthony J ; Tamimi, Rulla M ; Tapper, William J ; Terry, Mary Beth ; Torres, Diana ; Torres-Mejía, Gabriela ; Truong, Thérèse ; Vachon, Celine M ; Wendt, Camilla ; Yu, Jyh-Cherng ; Ziogas, Argyrios ; Ziv, Elad ; Dunning, Alison M ; Pharoah, Paul D P

Scientific reports, 2019-08, Vol.9 (1), p.12524-14, Article 12524 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
Two truncating variants in FANCC and breast cancer risk
Autor: Mannermaa, Arto ; Bolla, Manjeet K ; Dennis, Joe ; Ahearn, Thomas ; Andrulis, Irene L ; Anton-Culver, Hoda ; Arndt, Volker ; Aronson, Kristan J ; Augustinsson, Annelie ; Freeman, Laura E Beane ; Behrens, Sabine ; Bermisheva, Marina ; Blomqvist, Carl ; Bogdanova, Natalia V ; Brauch, Hiltrud ; Burwinkel, Barbara ; Choi, Ji-Yeob ; Couch, Fergus J ; Czene, Kamila ; Daly, Mary B ; Eccles, Diana M ; Ekici, Arif B ; Eriksson, Mikael ; Figueroa, Jonine ; Flyger, Henrik ; Fritschi, Lin ; Gabrielson, Marike ; Gapstur, Susan M ; García-Closas, Montserrat ; Giles, Graham G ; Goldberg, Mark S ; Goldgar, David E ; Haeberle, Lothar ; Håkansson, Niclas ; Hartman, Mikael ; Hauke, Jan ; Hein, Alexander ; Hillemanns, Peter ; Hogervorst, Frans B L ; Hooning, Maartje J ; Huo, Dezheng ; Ito, Hidemi ; Iwasaki, Motoki ; Jakubowska, Anna ; John, Esther M ; Jung, Audrey ; Kang, Daehee ; Kapoor, Pooja Middha ; Khusnutdinova, Elza ; Kim, Sung-Won ; Kitahara, Cari M ; Kwong, Ava ; Marchand, Loic Le ; Li, Jingmei ; Lindström, Sara ; Lo, Wing-Yee ; Long, Jirong ; Lubiński, Jan ; Manoukian, Siranoush ; Meindl, Alfons ; Menon, Usha ; Milne, Roger L ; Mohd Taib, Nur Aishah ; Mulligan, Anna Marie ; Nevanlinna, Heli ; Neven, Patrick ; Olshan, Andrew F ; Olson, Janet E ; Park, Sue K ; Plaseska-Karanfilska, Dijana ; Presneau, Nadege ; Rack, Brigitte ; Radice, Paolo ; Rashid, Muhammad U ; Rennert, Hedy S ; Romero, Atocha ; Ruebner, Matthias ; Schmidt, Marjanka K ; Schmutzler, Rita K ; Scott, Christopher ; Simard, Jacques ; Slager, Susan ; Smichkoska, Snezhana ; Southey, Melissa C ; Stone, Jennifer ; Surowy, Harald ; Swerdlow, Anthony J ; Tamimi, Rulla M ; Tapper, William J ; Terry, Mary Beth ; Torres, Diana ; Torres-Mejía, Gabriela ; Truong, Thérèse ; Vachon, Celine M ; Wendt, Camilla ; Yu, Jyh-Cherng ; Ziogas, Argyrios ; Ziv, Elad ; Dunning, Alison M ; Pharoah, Paul D P
Assuntos: Basic Medicine ; BRCA1 protein ; BRCA1 Protein - genetics ; BRCA2 protein ; BRCA2 Protein - genetics ; Breast cancer ; Breast Neoplasms - genetics ; Breast Neoplasms - metabolism ; Cancer and Oncology ; Cancer och onkologi ; Case-Control Studies ; Clinical Medicine ; Epidemiology ; FANCC protein ; Fanconi Anemia - genetics ; Fanconi Anemia Complementation Group C Protein - genetics ; Fanconi Anemia Complementation Group C Protein - metabolism ; Fanconi syndrome ; Female ; Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi ; Genes ; Genetic Predisposition to Disease ; Genetic Variation ; Genotypes ; Health risk assessment ; Hormone replacement therapy ; Humans ; Hälsovetenskap ; Klinisk medicin ; Medical and Health Sciences ; Medical Genetics ; Medicin och hälsovetenskap ; Medicinsk genetik ; Medicinska och farmaceutiska grundvetenskaper ; Menopause ; Mutation ; Sequence Deletion
É parte de: Scientific reports, 2019-08, Vol.9 (1), p.12524-14, Article 12524
Notas: EC/H2020/634935 and 633784
Descrição: 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.
Editor: England: Nature Publishing Group
Idioma: Inglês;Norueguês

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Two truncating variants in FANCC and breast cancer risk

England: Nature Publishing Group

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