The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients

R Chen-Shtoyerman; A Figer; H H Fidder; P Rath; L Yeremin; S Bar Meir; E Friedman; L Theodor

doi:10.1054/bjoc.2000.1598

The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients

R Chen-Shtoyerman, A Figer, H H Fidder, P Rath, L Yeremin, S Bar Meir, E Friedman, L Theodor

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

Abstract

It is presently unclear whether carriers of BRCA1 mutations have an increased risk for colorectal cancer (CRC). To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2). A total of four carriers was found (4/225, 1.78%). This frequency is similar to the estimated normal Ashkenazi population frequency, thus suggesting that these specific mutations do not contribute to CRC predisposition.

Original language	English
Pages (from-to)	475-7
Number of pages	3
Journal	British Journal of Cancer
Volume	84
Issue number	4
DOIs	https://doi.org/10.1054/bjoc.2000.1598
Publication status	Published - Feb 2001

Keywords

Aged
Aged, 80 and over
BRCA1 Protein
BRCA2 Protein
Colorectal Neoplasms
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Genetics, Population
Germ-Line Mutation
Humans
Jews
Male
Middle Aged
Neoplasm Proteins
Polymerase Chain Reaction
Transcription Factors
Journal Article
Research Support, Non-U.S. Gov't

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10.1054/bjoc.2000.1598

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title = "The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients",

abstract = "It is presently unclear whether carriers of BRCA1 mutations have an increased risk for colorectal cancer (CRC). To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2). A total of four carriers was found (4/225, 1.78%). This frequency is similar to the estimated normal Ashkenazi population frequency, thus suggesting that these specific mutations do not contribute to CRC predisposition.",

keywords = "Aged, Aged, 80 and over, BRCA1 Protein, BRCA2 Protein, Colorectal Neoplasms, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genetics, Population, Germ-Line Mutation, Humans, Jews, Male, Middle Aged, Neoplasm Proteins, Polymerase Chain Reaction, Transcription Factors, Journal Article, Research Support, Non-U.S. Gov't",

author = "R Chen-Shtoyerman and A Figer and Fidder, {H H} and P Rath and L Yeremin and {Bar Meir}, S and E Friedman and L Theodor",

year = "2001",

month = feb,

doi = "10.1054/bjoc.2000.1598",

language = "English",

volume = "84",

pages = "475--7",

journal = "British Journal of Cancer",

issn = "0007-0920",

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T1 - The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients

AU - Chen-Shtoyerman, R

AU - Figer, A

AU - Fidder, H H

AU - Rath, P

AU - Yeremin, L

AU - Bar Meir, S

AU - Friedman, E

AU - Theodor, L

PY - 2001/2

Y1 - 2001/2

N2 - It is presently unclear whether carriers of BRCA1 mutations have an increased risk for colorectal cancer (CRC). To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2). A total of four carriers was found (4/225, 1.78%). This frequency is similar to the estimated normal Ashkenazi population frequency, thus suggesting that these specific mutations do not contribute to CRC predisposition.

AB - It is presently unclear whether carriers of BRCA1 mutations have an increased risk for colorectal cancer (CRC). To gain insight into this issue, 225 unselected Ashkenazi Jewish CRC patients were tested for the presence of the three common Jewish BRCA1/2 germline mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2). A total of four carriers was found (4/225, 1.78%). This frequency is similar to the estimated normal Ashkenazi population frequency, thus suggesting that these specific mutations do not contribute to CRC predisposition.

KW - Aged

KW - Aged, 80 and over

KW - BRCA1 Protein

KW - BRCA2 Protein

KW - Colorectal Neoplasms

KW - DNA Mutational Analysis

KW - Female

KW - Genetic Predisposition to Disease

KW - Genetics, Population

KW - Germ-Line Mutation

KW - Humans

KW - Jews

KW - Male

KW - Middle Aged

KW - Neoplasm Proteins

KW - Polymerase Chain Reaction

KW - Transcription Factors

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1054/bjoc.2000.1598

DO - 10.1054/bjoc.2000.1598

M3 - Article

C2 - 11207040

SN - 0007-0920

VL - 84

SP - 475

EP - 477

JO - British Journal of Cancer

JF - British Journal of Cancer

IS - 4

ER -

The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients

Abstract

Keywords

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