Медицинская библиотека · Journal of medical genetics · 2016

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

Easton Douglas F, Lesueur Fabienne, Decker Brennan, Michailidou Kyriaki, Li Jun, Allen Jamie, Luccarini Craig, Pooley Karen A, Shah Mitul, Bolla Manjeet K, Wang Qin, Dennis Joe, Ahmad Jamil, Thompson Ella R, Damiola Francesca, Pertesi Maroulio, Voegele Catherine, Mebirouk Noura, Robinot Nivonirina, Durand Geoffroy, Forey Nathalie, Luben Robert N, Ahmed Shahana, Aittomäki Kristiina, Anton-Culver Hoda, Arndt Volker, Australian Ovarian Cancer Study Group, Baynes Caroline, Beckman Matthias W, Benitez Javier, Van Den Berg David, Blot William J, Bogdanova Natalia V, Bojesen Stig E, Brenner Hermann, Chang-Claude Jenny, Chia Kee Seng, Choi Ji-Yeob, Conroy Don M, Cox Angela, Cross Simon S, Czene Kamila, Darabi Hatef, Devilee Peter, Eriksson Mikael, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Fostira Florentia, García-Closas Montserrat, Giles Graham G, Glendon Gord, González-Neira Anna, Guénel Pascal, Haiman Christopher A, Hall Per, Hart Steven N, Hartman Mikael, Hooning Maartje J, Hsiung Chia-Ni, Ito Hidemi, Jakubowska Anna, James Paul A, John Esther M, Johnson Nichola, Jones Michael, Kabisch Maria, Kang Daehee, kConFab Investigators, Kosma Veli-Matti, Kristensen Vessela, Lambrechts Diether, Li Na, Lifepool Investigators, Lindblom Annika, Long Jirong, Lophatananon Artitaya, Lubinski Jan, Mannermaa Arto, Manoukian Siranoush, Margolin Sara, Matsuo Keitaro, Meindl Alfons, Mitchell Gillian, Muir Kenneth, NBCS Investigators, Nevelsteen Ines, van den Ouweland Ans, Peterlongo Paolo, Phuah Sze Yee, Pylkäs Katri, Rowley Simone M, Sangrajrang Suleeporn, Schmutzler Rita K, Shen Chen-Yang, Shu Xiao-Ou, Southey Melissa C, Surowy Harald, Swerdlow Anthony, Teo Soo H, Tollenaar Rob A E M, Tomlinson Ian, Torres Diana, Truong Thérèse, Vachon Celine, Verhoef Senno, Wong-Brown Michelle, Zheng Wei, Zheng Ying, Nevanlinna Heli, Scott Rodney J, Andrulis Irene L, Wu Anna H, Hopper John L, Couch Fergus J, Winqvist Robert, Burwinkel Barbara, Sawyer Elinor J, Schmidt Marjanka K, Rudolph Anja, Dörk Thilo, Brauch Hiltrud, Hamann Ute, Neuhausen Susan L, Milne Roger L, Fletcher Olivia, Pharoah Paul D P, Campbell Ian G, Dunning Alison M, Le Calvez-Kelm Florence, Goldgar David E, Tavtigian Sean V, Chenevix-Trench Georgia

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Аннотация

BACKGROUND

BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction.

METHODS

We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia.

RESULTS

The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75).

CONCLUSIONS

These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.

Для цитирования: Easton Douglas F, Lesueur Fabienne, Decker Brennan, Michailidou Kyriaki, Li Jun, Allen Jamie, Luccarini Craig, Pooley Karen A, Shah Mitul, Bolla Manjeet K, Wang Qin, Dennis Joe, Ahmad Jamil, Thompson Ella R, Damiola Francesca, Pertesi Maroulio, Voegele Catherine, Mebirouk Noura, Robinot Nivonirina, Durand Geoffroy, Forey Nathalie, Luben Robert N, Ahmed Shahana, Aittomäki Kristiina, Anton-Culver Hoda, Arndt Volker, Australian Ovarian Cancer Study Group, Baynes Caroline, Beckman Matthias W, Benitez Javier, Van Den Berg David, Blot William J, Bogdanova Natalia V, Bojesen Stig E, Brenner Hermann, Chang-Claude Jenny, Chia Kee Seng, Choi Ji-Yeob, Conroy Don M, Cox Angela, Cross Simon S, Czene Kamila, Darabi Hatef, Devilee Peter, Eriksson Mikael, Fasching Peter A, Figueroa Jonine, Flyger Henrik, Fostira Florentia, García-Closas Montserrat, Giles Graham G, Glendon Gord, González-Neira Anna, Guénel Pascal, Haiman Christopher A, Hall Per, Hart Steven N, Hartman Mikael, Hooning Maartje J, Hsiung Chia-Ni, Ito Hidemi, Jakubowska Anna, James Paul A, John Esther M, Johnson Nichola, Jones Michael, Kabisch Maria, Kang Daehee, kConFab Investigators, Kosma Veli-Matti, Kristensen Vessela, Lambrechts Diether, Li Na, Lifepool Investigators, Lindblom Annika, Long Jirong, Lophatananon Artitaya, Lubinski Jan, Mannermaa Arto, Manoukian Siranoush, Margolin Sara, Matsuo Keitaro, Meindl Alfons, Mitchell Gillian, Muir Kenneth, NBCS Investigators, Nevelsteen Ines, van den Ouweland Ans, Peterlongo Paolo, Phuah Sze Yee, Pylkäs Katri, Rowley Simone M, Sangrajrang Suleeporn, Schmutzler Rita K, Shen Chen-Yang, Shu Xiao-Ou, Southey Melissa C, Surowy Harald, Swerdlow Anthony, Teo Soo H, Tollenaar Rob A E M, Tomlinson Ian, Torres Diana, Truong Thérèse, Vachon Celine, Verhoef Senno, Wong-Brown Michelle, Zheng Wei, Zheng Ying, Nevanlinna Heli, Scott Rodney J, Andrulis Irene L, Wu Anna H, Hopper John L, Couch Fergus J, Winqvist Robert, Burwinkel Barbara, Sawyer Elinor J, Schmidt Marjanka K, Rudolph Anja, Dörk Thilo, Brauch Hiltrud, Hamann Ute, Neuhausen Susan L, Milne Roger L, Fletcher Olivia, Pharoah Paul D P, Campbell Ian G, Dunning Alison M, Le Calvez-Kelm Florence, Goldgar David E, Tavtigian Sean V, Chenevix-Trench Georgia. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.. Journal of medical genetics. 2016. DOI: 10.1136/jmedgenet-2015-103529.

Предметные рубрики MeSH

Adult Aged Breast Neoplasms Cohort Studies DNA-Binding Proteins Fanconi Anemia Complementation Group Proteins Female Genetic Association Studies Genetic Predisposition to Disease Humans Middle Aged Mutation RNA Helicases Risk White People

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