PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

[1]  A. Jasinska,et al.  Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes. , 2019, Gynecologic oncology.

[2]  M. Bihoreau,et al.  Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing , 2018, International journal of cancer.

[3]  Raymond M. Moore,et al.  Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing , 2018, Journal of the National Cancer Institute.

[4]  T. Frebourg,et al.  Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families , 2018, Genetics in Medicine.

[5]  I. Ellis,et al.  Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study , 2018, The lancet. Gastroenterology & hepatology.

[6]  Nina Ditsch,et al.  Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer , 2018, Cancer medicine.

[7]  F. Fostira,et al.  Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer , 2018, Breast Cancer Research and Treatment.

[8]  Sitao Wu,et al.  Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing , 2019, JAMA oncology.

[9]  Robert Huether,et al.  Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer , 2017, JAMA oncology.

[10]  Raymond M. Moore,et al.  The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk , 2017, npj Breast Cancer.

[11]  Gayle Patel,et al.  A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes , 2017, Cancer.

[12]  F. Couch,et al.  Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results , 2016, Breast Cancer Research and Treatment.

[13]  T. Walsh,et al.  Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2 , 2016, Breast Cancer Research and Treatment.

[14]  P. Souček,et al.  Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic. , 2016, Cancer genetics.

[15]  Tom Walsh,et al.  Inherited Mutations in Women With Ovarian Carcinoma. , 2016, JAMA oncology.

[16]  B. Rosen,et al.  Frequency of germline PALB2 mutations among women with epithelial ovarian cancer , 2016, Familial Cancer.

[17]  J. Lee,et al.  Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer , 2016, Breast Cancer Research and Treatment.

[18]  Lara E Sucheston-Campbell,et al.  Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. , 2015, Journal of the National Cancer Institute.

[19]  Brigitte Rack,et al.  Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. , 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[20]  Michele L Cote,et al.  BRCA1, BRCA2, PALB2, and CDKN2A Mutations in Familial Pancreatic Cancer (FPC): A PACGENE Study , 2014, Genetics in Medicine.

[21]  Daniel J. Park,et al.  Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry , 2015, Breast Cancer Research and Treatment.

[22]  Nazneen Rahman,et al.  Breast-cancer risk in families with mutations in PALB2. , 2014, The New England journal of medicine.

[23]  S. Cummings,et al.  Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer , 2014, Cancer.

[24]  J. Masson,et al.  PALB2 self-interaction controls homologous recombination , 2012, Nucleic acids research.

[25]  A. Meindl,et al.  Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer , 2011, Human mutation.

[26]  Daniel J. Park,et al.  A PALB2 mutation associated with high risk of breast cancer , 2010, Breast Cancer Research.

[27]  Bing Xia,et al.  PALB2/FANCN: recombining cancer and Fanconi anemia. , 2010, Cancer research.

[28]  F. Sera,et al.  A PALB2 germline mutation associated with hereditary breast cancer in Italy , 2010, Familial Cancer.

[29]  J. Hopper,et al.  Penetrance Analysis of the PALB2 c.1592delT Founder Mutation , 2008, Clinical Cancer Research.

[30]  W. Foulkes,et al.  Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women , 2007, Breast Cancer Research.

[31]  Petra M. Nederlof,et al.  Analysis of PALB2/FANCN-associated breast cancer families , 2007, Proceedings of the National Academy of Sciences.

[32]  Katri Pylkäs,et al.  A recurrent mutation in PALB2 in Finnish cancer families , 2007, Nature.

[33]  S. Seal,et al.  PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene , 2007, Nature Genetics.

[34]  C. Mathew,et al.  Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer , 2007, Nature Genetics.

[35]  Bruce Rannala,et al.  DMLE+: Bayesian linkage disequilibrium gene mapping , 2002, Bioinform..