Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. (13th November 2014)

• Record Type: Journal Article
• Authors: Cybulski, C.; Lubiński, J.; Wokołorczyk, D.; Kuźniak, W.; Kashyap, A.; Sopik, V.; Huzarski, T.; Gronwald, J.; Byrski, T.; Szwiec, M.; Jakubowska, A.; Górski, B.; Dębniak, T.; Narod, S.A; Akbari, M.R
• Is Part Of: Clinical genetics. Volume 88:Number 4(2015:Oct.)
• Page Start: 366
• Page End: 370
• Publication Date: 2014-11-13
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12524
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12524-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12524-para-0001">A number of genes other than <italic>BRCA1</italic> and <italic>BRCA2</italic> 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 <italic>BRCA1</italic>, <italic>CHEK2</italic> and <italic>NBS1</italic>, 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 <italic>BRCA2</italic> mutation was detected in 12 cases, a (non‐founder) <italic>BRCA1</italic> mutation was detected in 5 cases, a <italic>PALB2</italic> mutation was detected in 4 cases and an <italic>ATM</italic> mutation was detected in 2 cases. Polish women with familial breast cancer who are negative for founder mutations in <italic>BRCA1</italic>, <italic>CHEK2</italic> and <italic>NBS1</italic> should be fully screened for mutations in <italic>BRCA1</italic>, <italic>BRCA2</italic> and <italic>PALB2</italic>. The <italic>PALB2</italic> founder mutation c.509_519delGA should be included in the panel of Polish founder mutations.</p> </abstract>