The spectrum of genetic mutations in breast cancer

Asfandyar Sheikh; Syed Ather Hussain; Quratulain Ghori; Nida Naeem; Abul Fazil; Smith Giri; Brijesh Sathian; Prajeena Mainali; Dalal M. Al Tamimi

doi:10.7314/APJCP.2015.16.6.2177

The spectrum of genetic mutations in breast cancer

Asfandyar Sheikh, Syed Ather Hussain, Quratulain Ghori, Nida Naeem, Abul Fazil, Smith Giri, Brijesh Sathian, Prajeena Mainali, Dalal M. Al Tamimi

Research output: Contribution to journal › Short survey › peer-review

53 Citations (Scopus)

Abstract

Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. It is estimated that 5%-10% of all breast cancer cases in women are linked to hereditary susceptibility due to mutations in autosomal dominant genes. The two key players associated with high breast cancer risk are mutations in BRCA 1 and BRCA 2. Another highly important mutation can occur in TP53 resulting in a triple negative breast cancer. However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population. In this review, we discuss the entire spectrum of mutations which are associated with breast cancer.

Original language	English
Pages (from-to)	2177-2185
Number of pages	9
Journal	Asian Pacific Journal of Cancer Prevention
Volume	16
Issue number	6
DOIs	https://doi.org/10.7314/APJCP.2015.16.6.2177
Publication status	Published - 01-01-2015
Externally published	Yes

All Science Journal Classification (ASJC) codes

Epidemiology
Oncology
Public Health, Environmental and Occupational Health
Cancer Research

UN SDGs

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

Access to Document

10.7314/APJCP.2015.16.6.2177

Cite this

@article{2c7a0e22ca234b14ba7a92fdac338f3e,

title = "The spectrum of genetic mutations in breast cancer",

abstract = "Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. It is estimated that 5%-10% of all breast cancer cases in women are linked to hereditary susceptibility due to mutations in autosomal dominant genes. The two key players associated with high breast cancer risk are mutations in BRCA 1 and BRCA 2. Another highly important mutation can occur in TP53 resulting in a triple negative breast cancer. However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population. In this review, we discuss the entire spectrum of mutations which are associated with breast cancer.",

author = "Asfandyar Sheikh and Hussain, {Syed Ather} and Quratulain Ghori and Nida Naeem and Abul Fazil and Smith Giri and Brijesh Sathian and Prajeena Mainali and {Al Tamimi}, {Dalal M.}",

year = "2015",

month = jan,

day = "1",

doi = "10.7314/APJCP.2015.16.6.2177",

language = "English",

volume = "16",

pages = "2177--2185",

journal = "Asian Pacific Journal of Cancer Prevention",

issn = "1513-7368",

publisher = "Asian Pacific Organization for Cancer Prevention",

number = "6",

}

TY - JOUR

T1 - The spectrum of genetic mutations in breast cancer

AU - Sheikh, Asfandyar

AU - Hussain, Syed Ather

AU - Ghori, Quratulain

AU - Naeem, Nida

AU - Fazil, Abul

AU - Giri, Smith

AU - Sathian, Brijesh

AU - Mainali, Prajeena

AU - Al Tamimi, Dalal M.

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. It is estimated that 5%-10% of all breast cancer cases in women are linked to hereditary susceptibility due to mutations in autosomal dominant genes. The two key players associated with high breast cancer risk are mutations in BRCA 1 and BRCA 2. Another highly important mutation can occur in TP53 resulting in a triple negative breast cancer. However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population. In this review, we discuss the entire spectrum of mutations which are associated with breast cancer.

AB - Breast cancer is the most common malignancy in women around the world. About one in 12 women in the West develop breast cancer at some point in life. It is estimated that 5%-10% of all breast cancer cases in women are linked to hereditary susceptibility due to mutations in autosomal dominant genes. The two key players associated with high breast cancer risk are mutations in BRCA 1 and BRCA 2. Another highly important mutation can occur in TP53 resulting in a triple negative breast cancer. However, the great majority of breast cancer cases are not related to a mutated gene of high penetrance, but to genes of low penetrance such as CHEK2, CDH1, NBS1, RAD50, BRIP1 and PALB2, which are frequently mutated in the general population. In this review, we discuss the entire spectrum of mutations which are associated with breast cancer.

UR - http://www.scopus.com/inward/record.url?scp=84929207626&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84929207626&partnerID=8YFLogxK

U2 - 10.7314/APJCP.2015.16.6.2177

DO - 10.7314/APJCP.2015.16.6.2177

M3 - Short survey

C2 - 25824734

AN - SCOPUS:84929207626

SN - 1513-7368

VL - 16

SP - 2177

EP - 2185

JO - Asian Pacific Journal of Cancer Prevention

JF - Asian Pacific Journal of Cancer Prevention

IS - 6

ER -

The spectrum of genetic mutations in breast cancer

Abstract

All Science Journal Classification (ASJC) codes

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this