Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: More questions than answers

R. Gershoni-Baruch; Y. Patael; A. Figer; L. Kasinetz; E. Kadouri; R. Bruchim Bar Sade; E. Friedman

doi:10.1054/bjoc.2000.1248

Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: More questions than answers

R. Gershoni-Baruch, Y. Patael, Dagan, A. Figer, L. Kasinetz, E. Kadouri, R. Bruchim Bar Sade, E. Friedman

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

Abstract

The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n = 53) and healthy controls (n = 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry. (C) 2000 Cancer Research Campaign.

Original language	English
Pages (from-to)	153-155
Number of pages	3
Journal	British Journal of Cancer
Volume	83
Issue number	2
DOIs	https://doi.org/10.1054/bjoc.2000.1248
State	Published - 2000
Externally published	Yes

Bibliographical note

Funding Information:
This work was performed in partial fulfillment of the requirements for the Ph.D. degree from the Sackler School of Medicine at the Tel-Aviv University for Yael Patael. This study was partially supported by the ICRF fund and the MECC to Dr Eitan Friedman.

Keywords

APC
BRCA1
BRCA2
Breast cancer
I1307K polymorphism
Ovarian cancer

ASJC Scopus subject areas

Oncology
Cancer Research

UN SDGs

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

Access to Document

10.1054/bjoc.2000.1248

Cite this

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title = "Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: More questions than answers",

abstract = "The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n = 53) and healthy controls (n = 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry. (C) 2000 Cancer Research Campaign.",

keywords = "APC, BRCA1, BRCA2, Breast cancer, I1307K polymorphism, Ovarian cancer",

author = "R. Gershoni-Baruch and Y. Patael and Dagan and A. Figer and L. Kasinetz and E. Kadouri and {Bruchim Bar Sade}, R. and E. Friedman",

note = "Funding Information: This work was performed in partial fulfillment of the requirements for the Ph.D. degree from the Sackler School of Medicine at the Tel-Aviv University for Yael Patael. This study was partially supported by the ICRF fund and the MECC to Dr Eitan Friedman.",

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language = "English",

volume = "83",

pages = "153--155",

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TY - JOUR

T1 - Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer

T2 - More questions than answers

AU - Gershoni-Baruch, R.

AU - Patael, Y.

AU - Dagan,

AU - Figer, A.

AU - Kasinetz, L.

AU - Kadouri, E.

AU - Bruchim Bar Sade, R.

AU - Friedman, E.

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PY - 2000

Y1 - 2000

N2 - The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n = 53) and healthy controls (n = 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry. (C) 2000 Cancer Research Campaign.

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KW - BRCA1

KW - BRCA2

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KW - I1307K polymorphism

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Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: More questions than answers

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

UN SDGs

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