Different expressivity of BRCA1 and BRCA2: Analysis of 179 Italian pedigrees with identified mutation

Paolo Aretini; Emma D'Andrea; Barbara Pasini; Alessandra Viel; Renato Mariani Costantini; Laura Cortesi; Enrico Ricevuto; Simona Agata; Roberta Bisegna; Mauro Boiocchi; Maria Adelaide Caligo; Luigi Chieco-Bianchi; Giovanna Cipollini; Rosella Crucianelli; Cristina D'Amico; Massimo Federico; Chiara Ghimenti; Clelia De Giacomi; Arcangela De Nicolo; Lara Della Puppa; Sergio Ferrari; Corrado Ficorella; Davide Iandolo; Siranoush Manoukian; Paolo Marchetti; Fabio Marroni; Chiara Menin; Marco Montagna; Laura Ottini; Valeria Pensotti; Marco Pierotti; Paolo Radice; Manuela Santarosa; Vittorio Silingardi; Daniela Turchetti; Generoso Bevilacqua; Silvano Presciuttini

doi:10.1023/A:1025428807472

Different expressivity of BRCA1 and BRCA2: Analysis of 179 Italian pedigrees with identified mutation

Paolo Aretini (Corresponding Author)
, Emma D'Andrea
, Barbara Pasini
, Alessandra Viel
, Renato Mariani Costantini
, Laura Cortesi
, Enrico Ricevuto
, Simona Agata
, Roberta Bisegna
, Mauro Boiocchi
, Maria Adelaide Caligo
, Luigi Chieco-Bianchi
, Giovanna Cipollini
, Rosella Crucianelli
, Cristina D'Amico
, Massimo Federico
, Chiara Ghimenti
, Clelia De Giacomi
, Arcangela De Nicolo
, Lara Della Puppa

Sergio Ferrari, Corrado Ficorella, Davide Iandolo, Siranoush Manoukian, Paolo Marchetti, Fabio Marroni, Chiara Menin, Marco Montagna, Laura Ottini, Valeria Pensotti, Marco Pierotti, Paolo Radice, Manuela Santarosa, Vittorio Silingardi, Daniela Turchetti, Generoso Bevilacqua, Silvano Presciuttini

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

Abstract

Mutations in BRCA1 and BRCA2 show different expressivity with respect to cancer risk, and allelic heterogeneity may be present in both genes. We collected 179 pedigrees with identified germline mutation (104 BRCA1 and 75 BRCA2), ascertained in six collaborating centers of the Italian Consortium for Hereditary Breast and Ovarian Cancer. Significant heterogeneity was detected for several variables, and a logistic regression model including age of diagnosis in the proband, presence of ovarian cancer in the family, presence of prostate or pancreatic cancer in the family, and presence of male breast cancer in the family proved to be effective in predicting the presence of a mutation in a gene rather than the other. Excess of familial aggregation of both breast and ovarian cancer was observed in both genes. Proportion of ovarian cancer was increased in the 5′ portion of BRCAI, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.

Original language	English
Pages (from-to)	71-79
Number of pages	9
Journal	Breast Cancer Research and Treatment
Volume	81
Issue number	1
DOIs	https://doi.org/10.1023/A:1025428807472
Publication status	Published - Sept 2003
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords*

Allelic heterogeneity
BRCA1
BRCA2
Expressivity
Hereditary breast/ovarian cancer
Pedigree analysis

Field of Science*

1.6 Biological sciences
3.2 Clinical medicine

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

Access to Document

10.1023/A:1025428807472

Cite this

Aretini, P., D'Andrea, E., Pasini, B., Viel, A., Costantini, R. M., Cortesi, L., Ricevuto, E., Agata, S., Bisegna, R., Boiocchi, M., Caligo, M. A., Chieco-Bianchi, L., Cipollini, G., Crucianelli, R., D'Amico, C., Federico, M., Ghimenti, C., De Giacomi, C., De Nicolo, A., ... Presciuttini, S. (2003). Different expressivity of BRCA1 and BRCA2: Analysis of 179 Italian pedigrees with identified mutation. Breast Cancer Research and Treatment, 81(1), 71-79. https://doi.org/10.1023/A:1025428807472

@article{281fa7280bd449579e7e31af8ac920ca,

title = "Different expressivity of BRCA1 and BRCA2: Analysis of 179 Italian pedigrees with identified mutation",

abstract = "Mutations in BRCA1 and BRCA2 show different expressivity with respect to cancer risk, and allelic heterogeneity may be present in both genes. We collected 179 pedigrees with identified germline mutation (104 BRCA1 and 75 BRCA2), ascertained in six collaborating centers of the Italian Consortium for Hereditary Breast and Ovarian Cancer. Significant heterogeneity was detected for several variables, and a logistic regression model including age of diagnosis in the proband, presence of ovarian cancer in the family, presence of prostate or pancreatic cancer in the family, and presence of male breast cancer in the family proved to be effective in predicting the presence of a mutation in a gene rather than the other. Excess of familial aggregation of both breast and ovarian cancer was observed in both genes. Proportion of ovarian cancer was increased in the 5′ portion of BRCAI, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.",

keywords = "Allelic heterogeneity, BRCA1, BRCA2, Expressivity, Hereditary breast/ovarian cancer, Pedigree analysis",

author = "Paolo Aretini and Emma D'Andrea and Barbara Pasini and Alessandra Viel and Costantini, \{Renato Mariani\} and Laura Cortesi and Enrico Ricevuto and Simona Agata and Roberta Bisegna and Mauro Boiocchi and Caligo, \{Maria Adelaide\} and Luigi Chieco-Bianchi and Giovanna Cipollini and Rosella Crucianelli and Cristina D'Amico and Massimo Federico and Chiara Ghimenti and \{De Giacomi\}, Clelia and \{De Nicolo\}, Arcangela and \{Della Puppa\}, Lara and Sergio Ferrari and Corrado Ficorella and Davide Iandolo and Siranoush Manoukian and Paolo Marchetti and Fabio Marroni and Chiara Menin and Marco Montagna and Laura Ottini and Valeria Pensotti and Marco Pierotti and Paolo Radice and Manuela Santarosa and Vittorio Silingardi and Daniela Turchetti and Generoso Bevilacqua and Silvano Presciuttini",

year = "2003",

month = sep,

doi = "10.1023/A:1025428807472",

language = "English",

volume = "81",

pages = "71--79",

journal = "Breast Cancer Research and Treatment",

issn = "0167-6806",

publisher = "Springer",

number = "1",

}

Aretini, P, D'Andrea, E, Pasini, B, Viel, A, Costantini, RM, Cortesi, L, Ricevuto, E, Agata, S, Bisegna, R, Boiocchi, M, Caligo, MA, Chieco-Bianchi, L, Cipollini, G, Crucianelli, R, D'Amico, C, Federico, M, Ghimenti, C, De Giacomi, C, De Nicolo, A, Della Puppa, L, Ferrari, S, Ficorella, C, Iandolo, D, Manoukian, S, Marchetti, P, Marroni, F, Menin, C, Montagna, M, Ottini, L, Pensotti, V, Pierotti, M, Radice, P, Santarosa, M, Silingardi, V, Turchetti, D, Bevilacqua, G & Presciuttini, S 2003, 'Different expressivity of BRCA1 and BRCA2: Analysis of 179 Italian pedigrees with identified mutation', Breast Cancer Research and Treatment, vol. 81, no. 1, pp. 71-79. https://doi.org/10.1023/A:1025428807472

TY - JOUR

T1 - Different expressivity of BRCA1 and BRCA2

T2 - Analysis of 179 Italian pedigrees with identified mutation

AU - Aretini, Paolo

AU - D'Andrea, Emma

AU - Pasini, Barbara

AU - Viel, Alessandra

AU - Costantini, Renato Mariani

AU - Cortesi, Laura

AU - Ricevuto, Enrico

AU - Agata, Simona

AU - Bisegna, Roberta

AU - Boiocchi, Mauro

AU - Caligo, Maria Adelaide

AU - Chieco-Bianchi, Luigi

AU - Cipollini, Giovanna

AU - Crucianelli, Rosella

AU - D'Amico, Cristina

AU - Federico, Massimo

AU - Ghimenti, Chiara

AU - De Giacomi, Clelia

AU - De Nicolo, Arcangela

AU - Della Puppa, Lara

AU - Ferrari, Sergio

AU - Ficorella, Corrado

AU - Iandolo, Davide

AU - Manoukian, Siranoush

AU - Marchetti, Paolo

AU - Marroni, Fabio

AU - Menin, Chiara

AU - Montagna, Marco

AU - Ottini, Laura

AU - Pensotti, Valeria

AU - Pierotti, Marco

AU - Radice, Paolo

AU - Santarosa, Manuela

AU - Silingardi, Vittorio

AU - Turchetti, Daniela

AU - Bevilacqua, Generoso

AU - Presciuttini, Silvano

PY - 2003/9

Y1 - 2003/9

N2 - Mutations in BRCA1 and BRCA2 show different expressivity with respect to cancer risk, and allelic heterogeneity may be present in both genes. We collected 179 pedigrees with identified germline mutation (104 BRCA1 and 75 BRCA2), ascertained in six collaborating centers of the Italian Consortium for Hereditary Breast and Ovarian Cancer. Significant heterogeneity was detected for several variables, and a logistic regression model including age of diagnosis in the proband, presence of ovarian cancer in the family, presence of prostate or pancreatic cancer in the family, and presence of male breast cancer in the family proved to be effective in predicting the presence of a mutation in a gene rather than the other. Excess of familial aggregation of both breast and ovarian cancer was observed in both genes. Proportion of ovarian cancer was increased in the 5′ portion of BRCAI, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.

AB - Mutations in BRCA1 and BRCA2 show different expressivity with respect to cancer risk, and allelic heterogeneity may be present in both genes. We collected 179 pedigrees with identified germline mutation (104 BRCA1 and 75 BRCA2), ascertained in six collaborating centers of the Italian Consortium for Hereditary Breast and Ovarian Cancer. Significant heterogeneity was detected for several variables, and a logistic regression model including age of diagnosis in the proband, presence of ovarian cancer in the family, presence of prostate or pancreatic cancer in the family, and presence of male breast cancer in the family proved to be effective in predicting the presence of a mutation in a gene rather than the other. Excess of familial aggregation of both breast and ovarian cancer was observed in both genes. Proportion of ovarian cancer was increased in the 5′ portion of BRCAI, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2.

KW - Allelic heterogeneity

KW - BRCA1

KW - BRCA2

KW - Expressivity

KW - Hereditary breast/ovarian cancer

KW - Pedigree analysis

UR - https://www.scopus.com/pages/publications/10744231192

U2 - 10.1023/A:1025428807472

DO - 10.1023/A:1025428807472

M3 - Article

C2 - 14531499

AN - SCOPUS:10744231192

SN - 0167-6806

VL - 81

SP - 71

EP - 79

JO - Breast Cancer Research and Treatment

JF - Breast Cancer Research and Treatment

IS - 1

ER -

Different expressivity of BRCA1 and BRCA2: Analysis of 179 Italian pedigrees with identified mutation

Abstract

UN SDGs

Keywords*

Field of Science*

Publication Type*

Access to Document

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