Frequency of CDH1 Germline Mutations in Non-Gastric Cancers
Abstract
:Simple Summary
Abstract
1. Introduction
2. Methods
3. Results
3.1. Other Types of Cancer
3.2. Type of Mutations
4. Discussion
4.1. First Point
4.2. Second Point
4.3. Third Point
4.4. Limitations of the Study
5. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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First Author | Country | Type | HGVS | Localization | Protein | CDH1_DGC | CDH1_OC | OCs |
---|---|---|---|---|---|---|---|---|
Ikonen 2001 [8] | Finland | Missense | 808T>G | Ex_6 | S270A | - | 8 | PC |
Oliveira 2002 [9] | Europe | Insertion | 44dupT | Ex_1 | - | 1 | 3 | CRC(2), LBC(1) |
Lynch 2008 [10] | USA | Non sense | 70G>T | Ex_2 | - | 5 | 3 | BC |
Xie 2011 29] | France | Non sense | 283C>T | Ex_3 | - | - | 3 | LBC |
Chen 2013 [11] | China | Missense | 1018A>G | Ex_8 | T340A | - | 3 | LBC |
Salahshor 2001 [12] | Sweden | Missense | 1774G>A | Ex_12 | A592T | - | 2 | CRC |
Katona 2020 [13] | USA | Splice site | 1566+2A>G | In_10 | - | 1 | 1 | PC |
Gullo 2018 [14] | Portugal | Missense | 1901C>T | Ex_12 | A634V | 7 | 1 | LBC |
López 2016 [15] | Spain | Deletion | 1220delC | Ex_9 | - | 2 | 1 | CRC |
Bardram 2014 [16] | Denmark | Insertion | 1565+3insTT | In_10 | - | 5 | 1 | Ca |
More 2007 [17] | Caucasian | Splice site | 49+2A>C | In_1 | - | 3 | 1 | CRC |
Caucasian | Splice site | 1137G>A | Ex_8 | - | 2 | 1 | ToC | |
Kluijt 2012 [18] | Unknown | Non sense | 489C>A | Ex_4 | - | 2 | 1 | LBC |
Guilford 2010 [19] | Europe | Non sense | 70G>T | Ex_2 | - | 3 | 1 | BC |
Keller 2004 [20] | Germany | Deletion | 377delC | Ex_3 | - | 2 | 1 | LBC |
Frebourg 2006 [6] | Caucasian | Splice site | 531+2T>A | In_4 | - | 3 | 1 | Ca |
Guilford 2010 [20] | Maori | Splice site | 1008G>T | Ex_7 | - | 9 | 1 | CRC |
Oliveira 2002 [9] | Pakistan | Splice site | 832G>A | Ex_6 | - | 3 | 1 | LBC |
Lynch 2008 [10] | USA | Non sense | 1792C>T | Ex_12 | - | 1 | 1 | BC |
Masciari 2007 [21] | USA | Insertion | 517insA | Ex_4 | - | - | 1 | LBC |
Schrader 2011 [22] | USA | Splice site | 1565+1G>A | In_10 | - | - | 1 | BC |
Canada | Missense | 8C>G | Ex_1 | P3R | - | 1 | BC | |
Canada | Missense | 88C>A | Ex_2 | P30T | - | 1 | BC | |
Canada | Missense | 88C>A | Ex_2 | P30T | - | 1 | BC | |
Canada | Missense | 1223C>T | Ex_9 | A408V | - | 1 | BC | |
Canada | Missense | 1297G>C | Ex_9 | D433N | - | 1 | BC | |
Canada | Missense | 1813A>G | Ex_12 | R605G | - | 1 | BC | |
Canada | Missense | 2494G>A | Ex_16 | V832M | - | 1 | BC | |
Petridis 2014 [23] | UK | Splice site | 48+1G>A | Ex_1 | - | - | 1 | LBC |
UK | Insertion | 1465insC | Ex_10 | - | - | 1 | LBC | |
UK | Missense | 1942G>T | Ex_13 | E648X | - | 1 | LBC | |
UK | Deletion | 2398delC | Ex_15 | - | - | 1 | LBC | |
Benusiglio 2013 [24] | France | Splice site | 2164+2T>A | In_13 | - | - | 1 | LBC |
France | Deletion | del_ex_3 | Ex_3 | - | - | 1 | LBC | |
France | Splice site | 1008+1G>A | In_7 | - | - | 1 | ThC | |
France | Deletion | 2386delC | Ex_15 | - | - | 1 | LBC | |
Xie 2011 [25] | France | Deletion | 1582delC | Ex_11 | - | - | 1 | LBC |
Manchana 2019 [26] | Thailandia | Missense | 1118C>T | Ex_8 | P373L | - | 1 | OC |
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Massari, G.; Magnoni, F.; Favia, G.; Peradze, N.; Veronesi, P.; La Vecchia, C.; Corso, G. Frequency of CDH1 Germline Mutations in Non-Gastric Cancers. Cancers 2021, 13, 2321. https://doi.org/10.3390/cancers13102321
Massari G, Magnoni F, Favia G, Peradze N, Veronesi P, La Vecchia C, Corso G. Frequency of CDH1 Germline Mutations in Non-Gastric Cancers. Cancers. 2021; 13(10):2321. https://doi.org/10.3390/cancers13102321
Chicago/Turabian StyleMassari, Giulia, Francesca Magnoni, Giorgio Favia, Nickolas Peradze, Paolo Veronesi, Carlo La Vecchia, and Giovanni Corso. 2021. "Frequency of CDH1 Germline Mutations in Non-Gastric Cancers" Cancers 13, no. 10: 2321. https://doi.org/10.3390/cancers13102321