Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland

被引：31

作者：

Cybulski, C. ^{[1
]}

Lubinski, J. ^{[1
]}

Wokolorczyk, D. ^{[1
]}

Kuzniak, W. ^{[1
]}

Kashyap, A. ^{[1
]}

Sopik, V. ^{[2
]}

Huzarski, T. ^{[1
]}

Gronwald, J. ^{[1
]}

Byrski, T. ^{[1
]}

Szwiec, M. ^{[3
]}

Jakubowska, A. ^{[1
]}

Gorski, B. ^{[1
]}

Debniak, T. ^{[1
]}

Narod, S. A. ^{[2
,4
]}

Akbari, M. R. ^{[2
,4
]}

机构：

[1] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland

[2] Univ Toronto, Womens Coll Hosp, Womens Coll Res, Toronto, ON, Canada

[3] Ctr Oncol, Tadeusz Koszarowski Reg, Opole, Poland

[4] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada

来源：

CLINICAL GENETICS | 2015年 / 88卷 / 04期

关键词：

ATM; BRCA1; BRCA2; breast cancer; BRIP; CHEK2; hereditary; mutation; PALB2; whole-exome sequencing; BARD1; MUTATIONS; NBS1; GENE; SUSCEPTIBILITY; PALB2; BRCA1; RISK; PREVALENCE; DELETION; PROTEIN; 657DEL5;

D O I：

10.1111/cge.12524

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A number of genes other than BRCA1 and BRCA2 have been associated with breast cancer predisposition, and extended genetic testing panels have been proposed. It is of interest to establish the full spectrum of deleterious mutations in women with familial breast cancer. We performed whole-exome sequencing of 144 women with familial breast cancer and negative for 11 Polish founder mutations in BRCA1, CHEK2 and NBS1, and we evaluated the sequences of 12 known breast cancer susceptibility genes. A truncating mutation in a breast cancer gene was detected in 24 of 144 women (17%) with familial breast cancer. A BRCA2 mutation was detected in 12 cases, a (non-founder) BRCA1 mutation was detected in 5 cases, a PALB2 mutation was detected in 4 cases and an ATM mutation was detected in 2 cases. Polish women with familial breast cancer who are negative for founder mutations in BRCA1, CHEK2 and NBS1 should be fully screened for mutations in BRCA1, BRCA2 and PALB2. The PALB2 founder mutation c.509_519delGA should be included in the panel of Polish founder mutations.

引用

页码：366 / 370

页数：5

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