Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank

Several breast cancer susceptibility genes have been discovered, but more are likely to exist. To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. W...

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Published in:American journal of human genetics 2023-04, Vol.110 (4), p.648-662
Main Authors: Cybulski, Cezary, Zamani, Neda, Kluźniak, Wojciech, Milano, Larissa, Wokołorczyk, Dominika, Stempa, Klaudia, Rudnicka, Helena, Zhang, Shiyu, Zadeh, Maryam, Huzarski, Tomasz, Jakubowska, Anna, Dębniak, Tadeusz, Lener, Marcin, Szwiec, Marek, Domagała, Paweł, Samani, Amir Abbas, Narod, Steven, Gronwald, Jacek, Masson, Jean-Yves, Lubiński, Jan, Akbari, Mohammad R.
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
ATRIP
Biological Specimen Banks
Breast Neoplasms - genetics
Cell Cycle Proteins - genetics
DNA Damage
DNA-Binding Proteins - genetics
Female
hereditary breast cancer
homologous recombination deficiency
Humans
loss of heterozygosity
Poland - epidemiology
Polish population
Replication Protein A - genetics
Replication Protein A - metabolism
UK Biobank
United Kingdom - epidemiology
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cited_by cdi_FETCH-LOGICAL-c456t-509bab9edca3851753e6fb3bd29dc81b05b2a1a4e7ef8753d34298e0e97896c73
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creator Cybulski, Cezary
Zamani, Neda
Kluźniak, Wojciech
Milano, Larissa
Wokołorczyk, Dominika
Stempa, Klaudia
Rudnicka, Helena
Zhang, Shiyu
Zadeh, Maryam
Huzarski, Tomasz
Jakubowska, Anna
Dębniak, Tadeusz
Lener, Marcin
Szwiec, Marek
Domagała, Paweł
Samani, Amir Abbas
Narod, Steven
Gronwald, Jacek
Masson, Jean-Yves
Lubiński, Jan
Akbari, Mohammad R.
description Several breast cancer susceptibility genes have been discovered, but more are likely to exist. To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. We identified a rare mutation in ATRIP (GenBank: NM_130384.3: c.1152_1155del [p.Gly385Ter]) in two women with breast cancer. At the validation phase, we found this variant in 42/16,085 unselected Polish breast cancer-affected individuals and in 11/9,285 control subjects (OR = 2.14, 95% CI = 1.13–4.28, p = 0.02). By analyzing the sequence data of the UK Biobank study participants (450,000 individuals), we identified ATRIP loss-of-function variants among 13/15,643 breast cancer-affected individuals versus 40/157,943 control subjects (OR = 3.28, 95% CI = 1.76–6.14, p 
doi_str_mv 10.1016/j.ajhg.2023.03.002
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To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. We identified a rare mutation in ATRIP (GenBank: NM_130384.3: c.1152_1155del [p.Gly385Ter]) in two women with breast cancer. At the validation phase, we found this variant in 42/16,085 unselected Polish breast cancer-affected individuals and in 11/9,285 control subjects (OR = 2.14, 95% CI = 1.13–4.28, p = 0.02). By analyzing the sequence data of the UK Biobank study participants (450,000 individuals), we identified ATRIP loss-of-function variants among 13/15,643 breast cancer-affected individuals versus 40/157,943 control subjects (OR = 3.28, 95% CI = 1.76–6.14, p &lt; 0.001). Immunohistochemistry and functional studies showed the ATRIP c.1152_1155del variant allele is weakly expressed compared to the wild-type allele, and truncated ATRIP fails to perform its normal function to prevent replicative stress. We showed that tumors of women with breast cancer who have a germline ATRIP mutation have loss of heterozygosity at the site of ATRIP mutation and genomic homologous recombination deficiency. ATRIP is a critical partner of ATR that binds to RPA coating single-stranded DNA at sites of stalled DNA replication forks. Proper activation of ATR-ATRIP elicits a DNA damage checkpoint crucial in regulating cellular responses to DNA replication stress. Based on our observations, we conclude ATRIP is a breast cancer susceptibility gene candidate linking DNA replication stress to breast cancer. We report an association between ATRIP mutations and increased risk of breast cancer. 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Immunohistochemistry and functional studies showed the ATRIP c.1152_1155del variant allele is weakly expressed compared to the wild-type allele, and truncated ATRIP fails to perform its normal function to prevent replicative stress. We showed that tumors of women with breast cancer who have a germline ATRIP mutation have loss of heterozygosity at the site of ATRIP mutation and genomic homologous recombination deficiency. ATRIP is a critical partner of ATR that binds to RPA coating single-stranded DNA at sites of stalled DNA replication forks. Proper activation of ATR-ATRIP elicits a DNA damage checkpoint crucial in regulating cellular responses to DNA replication stress. Based on our observations, we conclude ATRIP is a breast cancer susceptibility gene candidate linking DNA replication stress to breast cancer. We report an association between ATRIP mutations and increased risk of breast cancer. 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To identify additional breast cancer susceptibility genes, we used the founder population of Poland and performed whole-exome sequencing on 510 women with familial breast cancer and 308 control subjects. We identified a rare mutation in ATRIP (GenBank: NM_130384.3: c.1152_1155del [p.Gly385Ter]) in two women with breast cancer. At the validation phase, we found this variant in 42/16,085 unselected Polish breast cancer-affected individuals and in 11/9,285 control subjects (OR = 2.14, 95% CI = 1.13–4.28, p = 0.02). By analyzing the sequence data of the UK Biobank study participants (450,000 individuals), we identified ATRIP loss-of-function variants among 13/15,643 breast cancer-affected individuals versus 40/157,943 control subjects (OR = 3.28, 95% CI = 1.76–6.14, p &lt; 0.001). Immunohistochemistry and functional studies showed the ATRIP c.1152_1155del variant allele is weakly expressed compared to the wild-type allele, and truncated ATRIP fails to perform its normal function to prevent replicative stress. We showed that tumors of women with breast cancer who have a germline ATRIP mutation have loss of heterozygosity at the site of ATRIP mutation and genomic homologous recombination deficiency. ATRIP is a critical partner of ATR that binds to RPA coating single-stranded DNA at sites of stalled DNA replication forks. Proper activation of ATR-ATRIP elicits a DNA damage checkpoint crucial in regulating cellular responses to DNA replication stress. Based on our observations, we conclude ATRIP is a breast cancer susceptibility gene candidate linking DNA replication stress to breast cancer. We report an association between ATRIP mutations and increased risk of breast cancer. 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subjects Adaptor Proteins, Signal Transducing - genetics
ATRIP
Biological Specimen Banks
Breast Neoplasms - genetics
Cell Cycle Proteins - genetics
DNA Damage
DNA-Binding Proteins - genetics
Female
hereditary breast cancer
homologous recombination deficiency
Humans
loss of heterozygosity
Poland - epidemiology
Polish population
Replication Protein A - genetics
Replication Protein A - metabolism
UK Biobank
United Kingdom - epidemiology
title Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank
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