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1. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Author

Peterlongo, P, Catucci, I, Colombo, M, Caleca, L, Mucaki, E, Bogliolo, M, Marin, M, Damiola, F, Bernard, L, Pensotti, V, Volorio, S, Dall'Olio, V, Meindl, A, Bartram, C, Sutter, C, Surowy, H, Sornin, V, Dondon, M, Eon-Marchais, S, Stoppa-Lyonnet, D, Andrieu, N, Sinilnikova, O, Mitchell, G, James, P, Thompson, E, Kconfab, Marchetti, M, Verzeroli, C, Tartari, C, Capone, G, Putignano, A, Genuardi, M, Medici, V, Marchi, I, Federico, M, Tognazzo, S, Matricardi, L, Agata, S, Dolcetti, R, Della Puppa, L, Cini, G, Gismondi, V, Viassolo, V, Perfumo, C, Mencarelli, M, Baldassarri, M, Peissel, B, Roversi, G, Silvestri, V, Rizzolo, P, Spina, F, Vivanet, C, Tibiletti, M, Caligo, M, Gambino, G, Tommasi, S, Pilato, B, Tondini, C, Corna, C, Bonanni, B, Barile, M, Osorio, A, Benitez, J, Balestrino, L, Ottini, L, Manoukian, S, Pierotti, M, Renieri, A, Varesco, L, Couch, F, Wang, X, Devilee, P, Hilbers, F, van Asperen, C, Viel, A, Montagna, M, Cortesi, L, Diez, O, Balmaña, J, Hauke, J, Schmutzler, R, Papi, L, Pujana, M, Lázaro, C, Falanga, A, Offit, K, Vijai, J, Campbell, I, Burwinkel, B, Kvist, A, Ehrencrona, H, Mazoyer, S, Pizzamiglio, S, Verderio, P, Surralles, J, Rogan, P, Radice, P, Dondon, MG, Sinilnikova, OM, James, PA, kConFab, Putignano, AL, Mencarelli, MA, Tibiletti, MG, Caligo, MA, Pierotti, MA, Couch, FJ, Hilbers, FS, van Asperen, CJ, Schmutzler, RK, Pujana, MA, Rogan, PK, Peterlongo, P, Catucci, I, Colombo, M, Caleca, L, Mucaki, E, Bogliolo, M, Marin, M, Damiola, F, Bernard, L, Pensotti, V, Volorio, S, Dall'Olio, V, Meindl, A, Bartram, C, Sutter, C, Surowy, H, Sornin, V, Dondon, M, Eon-Marchais, S, Stoppa-Lyonnet, D, Andrieu, N, Sinilnikova, O, Mitchell, G, James, P, Thompson, E, Kconfab, Marchetti, M, Verzeroli, C, Tartari, C, Capone, G, Putignano, A, Genuardi, M, Medici, V, Marchi, I, Federico, M, Tognazzo, S, Matricardi, L, Agata, S, Dolcetti, R, Della Puppa, L, Cini, G, Gismondi, V, Viassolo, V, Perfumo, C, Mencarelli, M, Baldassarri, M, Peissel, B, Roversi, G, Silvestri, V, Rizzolo, P, Spina, F, Vivanet, C, Tibiletti, M, Caligo, M, Gambino, G, Tommasi, S, Pilato, B, Tondini, C, Corna, C, Bonanni, B, Barile, M, Osorio, A, Benitez, J, Balestrino, L, Ottini, L, Manoukian, S, Pierotti, M, Renieri, A, Varesco, L, Couch, F, Wang, X, Devilee, P, Hilbers, F, van Asperen, C, Viel, A, Montagna, M, Cortesi, L, Diez, O, Balmaña, J, Hauke, J, Schmutzler, R, Papi, L, Pujana, M, Lázaro, C, Falanga, A, Offit, K, Vijai, J, Campbell, I, Burwinkel, B, Kvist, A, Ehrencrona, H, Mazoyer, S, Pizzamiglio, S, Verderio, P, Surralles, J, Rogan, P, Radice, P, Dondon, MG, Sinilnikova, OM, James, PA, kConFab, Putignano, AL, Mencarelli, MA, Tibiletti, MG, Caligo, MA, Pierotti, MA, Couch, FJ, Hilbers, FS, van Asperen, CJ, Schmutzler, RK, Pujana, MA, and Rogan, PK

Abstract

Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p. Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p. Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.

Published
2015

2. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement

Author

Emanuele Damiano Luca Urso, Maurizio Ponz de Leon, Marco Vitellaro, Guglielmo Niccolò Piozzi, Quoc Riccardo Bao, Aline Martayan, Andrea Remo, Vittoria Stigliano, Cristina Oliani, Emanuela Lucci Cordisco, Salvatore Pucciarelli, Guglielmina Nadia Ranzani, Alessandra Viel, Francesca Adami, Elisa Alducci, Lucia Amadori, Valentina Arcangeli, Luisa Balestrino, Daniela Barana, Lucio Bertario, Bernardo Bonanni, Stefania Boni, Pierluigi Bullian, Fiorella Carbonardi, Ileana Carnevali, Paola Castelli, Francesco Celotto, Giulia Cini, Gino Crivellari, Duilio Della Libera, Anastasia Dell'elice, Maria Digennaro, Alessandra D'urso, Antonella Fabretto, Daniele Fanale, Irene Feroce, Daniela Furlan, Paola Ghiorzo, Mara Giacché, Milena Gusella, Barbara Liserre, Isabella Mammi, Stefania Massuras, Daniela Mazzà, Eleonora Mollica, Alberto Morabito, Giorgia Nardo, Flavia Palermo, Elena Panizza, Margherita Patruno, Monica Pedroni, Valeria Grazia Maria Pensotti, Guglielmo Niccolo Piozzi, Simonetta Pozzi, Silvia Presi, Marta Puzzono, Mila Ravegnani, Maria Teresa Ricci, Luca Roncucci, Giovanni Battsita Rossi, Elena Maria Sala, Lupe Sanchez Mete, Daniele Sandonà, Stefania Sciallero, Davide Serrano, Stefano Signoroni, Francesca Spina, Monica Taborelli, Gianluca Tedaldi, Maria Grazia Tibiletti, Silvia Tognazzo, Gianluca Tolva, Cristina Maria Concetta Trovato, Daniela Turchetti, Dora Varvara, Caterina Vivanet, Stefania Zovato, Raffaella Alessia Zuppardo, Urso E.D.L., Ponz de Leon M., Vitellaro M., Piozzi G.N., Bao Q.R., Martayan A., Remo A., Stigliano V., Oliani C., Lucci Cordisco E., Pucciarelli S., Ranzani G.N., Viel A., Adami F., Alducci E., Amadori L., Arcangeli V., Balestrino L., Barana D., Bertario L., Bonanni B., Boni S., Bullian P., Carbonardi F., Carnevali I., Castelli P., Celotto F., Cini G., Crivellari G., Libera D.D., Dell'elice A., Digennaro M., D'urso A., Fabretto A., Fanale D., Feroce I., Furlan D., Ghiorzo P., Giacche M., Gusella M., Liserre B., Mammi I., Massuras S., Mazza D., Mollica E., Morabito A., Nardo G., Palermo F., Panizza E., Patruno M., Pedroni M., Pensotti V.G.M., Pozzi S., Presi S., Puzzono M., Ravegnani M., Ricci M.T., Roncucci L., Rossi G.B., Sala E.M., Mete L.S., Sandona D., Sciallero S., Serrano D., Signoroni S., Spina F., Taborelli M., Tedaldi G., Tibiletti M.G., Tognazzo S., Tolva G., Trovato C.M.C., Turchetti D., Varvara D., Vivanet C., Zovato S., and Zuppardo R.A.

Subjects
Oncology, medicine.medical_specialty, Gastrointestinal tumors, Colorectal cancer, Surgical Management, Colorectal polyposis, Germline, 03 medical and health sciences, Cancer Genetic, 0302 clinical medicine, MUTYH, Internal medicine, medicine, Cancer Genetics, Polyposis coli, Hepatology, Pathogenic mutation, business.industry, Colorectal polyposis not associated with APC/MUTYH mutation, Polyposis management guideline, Gastroenterology, Expert consensus, Endoscopic surveillance, medicine.disease, Consensus development conference, 030220 oncology & carcinogenesis, 030211 gastroenterology & hepatology, business
Abstract

An expert consensus panel convened by the Italian Association for Inherited and Familial Gastrointestinal Tumors (Associazione Italiana per lo Studio della Familiarita ed Ereditarieta dei Tumori Gastrointestinali, AIFEG) reviewed the literature and agreed on a number of position statements regarding the definition and management of polyposis coli without an identified pathogenic mutation on the APC or MUTYH genes, defined in the document as NAMP (non-APC/MUTYH polyposis).

Published
2021

3. FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Author

Laura Ottini, Bernard Peissel, Carmen J Tartari, Peter Devilee, Silvia Tognazzo, Anders Kvist, Lara Della Puppa, Mara Colombo, Isabella Marchi, Conxi Lázaro, Caterina Vivanet, Jordi Surrallés, Valeria Viassolo, Joseph Vijai, Kenneth Offit, Paolo Radice, Veronica Medici, Ana Osorio, Francesca Spina, Stefania Tommasi, Carlo Tondini, Marina Marchetti, Chiara Corna, Eliseos J. Mucaki, Gabriele Lorenzo Capone, Piera Rizzolo, Maurizio Genuardi, Alessandra Renieri, Jan Hauke, Laura Cortesi, Laura Caleca, Dominique Stoppa-Lyonnet, Paolo Peterlongo, Christi J. van Asperen, Hans Ehrencrona, Fergus J. Couch, Ian G. Campbell, Valeria Pensotti, Irene Catucci, Miguel Angel Pujana, Sylvie Mazoyer, Massimo Federico, Paolo Verderio, Alfons Meindl, Brunella Pilato, Claus R. Bartram, Valentina Dall'Olio, Paul A. James, Massimo Bogliolo, Loris Bernard, Maria Marín, Valérie Sornin, Luisa Balestrino, Gaia Roversi, Judith Balmaña, Marie-Gabrielle Dondon, Simona Agata, Rita K. Schmutzler, Barbara Burwinkel, Viviana Gismondi, Giulia Cini, Ella R. Thompson, Nadine Andrieu, Sara Volorio, Maria Grazia Tibiletti, Francesca Damiola, Harald Surowy, Alessandra Viel, Peter K. Rogan, Laura Matricardi, Anna Laura Putignano, Cristina Verzeroli, Anna Falanga, Chiara Perfumo, Marco Montagna, Margherita Baldassarri, Monica Barile, Riccardo Dolcetti, Florentine Hilbers, Javier Benitez, Laura Papi, Maria Antonietta Mencarelli, Séverine Eon-Marchais, Gillian Mitchell, Orland Diez, Siranoush Manoukian, Maria A. Caligo, Christian Sutter, Gaetana Gambino, Xianshu Wang, Marco A. Pierotti, Bernardo Bonanni, Sara Pizzamiglio, Liliana Varesco, Valentina Silvestri, Olga M. Sinilnikova, Peterlongo, P, Catucci, I, Colombo, M, Caleca, L, Mucaki, E, Bogliolo, M, Marin, M, Damiola, F, Bernard, L, Pensotti, V, Volorio, S, Dall'Olio, V, Meindl, A, Bartram, C, Sutter, C, Surowy, H, Sornin, V, Dondon, M, Eon-Marchais, S, Stoppa-Lyonnet, D, Andrieu, N, Sinilnikova, O, Mitchell, G, James, P, Thompson, E, Kconfab, Marchetti, M, Verzeroli, C, Tartari, C, Capone, G, Putignano, A, Genuardi, M, Medici, V, Marchi, I, Federico, M, Tognazzo, S, Matricardi, L, Agata, S, Dolcetti, R, Della Puppa, L, Cini, G, Gismondi, V, Viassolo, V, Perfumo, C, Mencarelli, M, Baldassarri, M, Peissel, B, Roversi, G, Silvestri, V, Rizzolo, P, Spina, F, Vivanet, C, Tibiletti, M, Caligo, M, Gambino, G, Tommasi, S, Pilato, B, Tondini, C, Corna, C, Bonanni, B, Barile, M, Osorio, A, Benitez, J, Balestrino, L, Ottini, L, Manoukian, S, Pierotti, M, Renieri, A, Varesco, L, Couch, F, Wang, X, Devilee, P, Hilbers, F, van Asperen, C, Viel, A, Montagna, M, Cortesi, L, Diez, O, Balmaña, J, Hauke, J, Schmutzler, R, Papi, L, Pujana, M, Lázaro, C, Falanga, A, Offit, K, Vijai, J, Campbell, I, Burwinkel, B, Kvist, A, Ehrencrona, H, Mazoyer, S, Pizzamiglio, S, Verderio, P, Surralles, J, Rogan, P, and Radice, P

Subjects
DNA Repair, Heterogeneous Nuclear Ribonucleoprotein A1, DNA Mutational Analysis, Gene Expression, medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, 0302 clinical medicine, Gene Frequency, Risk Factors, Genetics, Genetics (clinical), Molecular Biology, Genotype, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, FANCM, Age of Onset, 0303 health sciences, Mutation, Association Studies Articles, General Medicine, Exons, Middle Aged, 3. Good health, ddc, Codon, Nonsense, 030220 oncology & carcinogenesis, Female, Protein Binding, Adult, Alleles, Binding Sites, Breast Neoplasms, Case-Control Studies, DNA Helicases, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Meta-Analysis as Topic, Nucleotide Motifs, Position-Specific Scoring Matrices, Young Adult, Alternative Splicing, PALB2, Nonsense mutation, Biology, breast cancer, risk factor, 03 medical and health sciences, Breast cancer, T+nonsense+mutation+%28rs144567652%22">FANCM c.5791C>T nonsense mutation (rs144567652, medicine, Risk factor, Codon, 030304 developmental biology, medicine.disease, Exon skipping, FANCM, familial breast cancer, Nonsense, Cancer research
Abstract

© The Author 2015. Published by Oxford University Press. All rights reserved. Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p. Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p. Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.

Published
2015

4. Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.

Author

Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, and Caligo MA

Subjects
Adult, Age of Onset, Cohort Studies, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genetic Variation, Germ-Line Mutation, Humans, Italy, Middle Aged, PTEN Phosphohydrolase genetics, Penetrance, Regulatory Sequences, Nucleic Acid, Hereditary Breast and Ovarian Cancer Syndrome genetics
Abstract

With the progress of sequencing technologies, an ever-increasing number of variants of unknown functional and clinical significance (VUS) have been identified in both coding and non-coding regions of the main Breast Cancer (BC) predisposition genes. The aim of this study is to identify a mutational profile of coding and intron-exon junction regions of 12 moderate penetrance genes ( ATM , BRIP1 , CDH1 , CHEK2 , NBN , PALB2 , PTEN , RAD50 , RAD51C , RAD51D , STK11 , TP53 ) in a cohort of 450 Italian patients with Hereditary Breast/Ovarian Cancer Syndrome, wild type for germline mutation in BRCA1/2 genes. The analysis was extended to 5'UTR and 3'UTR of all the genes listed above and to the BRCA1 and BRCA2 known regulatory regions in a subset of 120 patients. The screening was performed through NGS target resequencing on the Illumina platform MiSeq. 8.7% of the patients analyzed is carriers of class 5/4 coding variants in the ATM (3.6%), BRIP1 (1.6%), CHEK2 (1.8%), PALB2 (0.7%), RAD51C (0.4%), RAD51D (0.4%), and TP53 (0.2%) genes, while variants of uncertain pathological significance (VUSs)/class 3 were identified in 9.1% of the samples. In intron-exon junctions and in regulatory regions, variants were detected respectively in 5.1% and in 32.5% of the cases analyzed. The average age of disease onset of 44.4 in non-coding variant carriers is absolutely similar to the average age of disease onset in coding variant carriers for each proband's group with the same cancer type. Furthermore, there is not a statistically significant difference in the proportion of cases with a tumor onset under age of 40 between the two groups, but the presence of multiple non-coding variants in the same patient may affect the aggressiveness of the tumor and it is worth underlining that 25% of patients with an aggressive tumor are carriers of a PTEN 3'UTR-variant. This data provides initial information on how important it might be to extend mutational screening to the regulatory regions in clinical practice.

Published
2021
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5. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Author

Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM, Mitchell G, James PA, Thompson E, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, and Radice P

Subjects
Adult, Age of Onset, Alleles, Binding Sites, Breast Neoplasms epidemiology, Breast Neoplasms genetics, Case-Control Studies, DNA Helicases metabolism, DNA Mutational Analysis, Female, Gene Expression, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Heterogeneous Nuclear Ribonucleoprotein A1, Heterogeneous-Nuclear Ribonucleoprotein Group A-B metabolism, Humans, Meta-Analysis as Topic, Middle Aged, Nucleotide Motifs, Position-Specific Scoring Matrices, Protein Binding, Risk Factors, Young Adult, Alternative Splicing, Codon, Nonsense, DNA Helicases genetics, DNA Repair, Exons
Abstract

Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer., (© The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Published
2015
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