About: PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo

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About: PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в лютому 2014 (uk) article scientifique publié en 2014 (fr) im Februar 2014 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q60315437-25C46B79-4D31-4516-BA3E-6BCC16BBB21D
publication date	2014-02-20 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q60315437-FE220F3A-14B5-4773-81C2-058EF0BCCBA8
language of work or name	English
exact match	wds:Q60315437-2A0BF34F-1C5E-42BD-A6F6-673BE0270765
exact match	https://scigraph.springernature.com/pub.10.1038/gim.2014.13
cites work	wds:Q60315437-09F3A781-0A0E-4A89-9016-F9DBA26E56D4 wds:Q60315437-12268D98-871E-41E8-9101-8B2AFA53E54E wds:Q60315437-14A82569-17F4-4EFF-A603-6DD0D3A8B33B wds:Q60315437-17DA9ECB-9F78-4A71-A574-E86FC2F46E6B wds:Q60315437-1BE33B67-27D5-41B3-ABA2-170F12466233 wds:Q60315437-242AA9D3-D5D2-49BF-9C4D-DE63B6BD40C5 wds:Q60315437-3840B857-FA1E-428B-9445-B0A4300DB0B8 wds:Q60315437-42C2FD50-AA90-46FB-8D8C-431004FBDB3E wds:Q60315437-46E3A378-6F45-44FD-A26A-1B4C9828E51B wds:Q60315437-5B396A7D-2C16-42C3-ABA2-4F66DE1CACA7 wds:Q60315437-5ECDD404-147D-4CEA-875F-02D2E429646E wds:Q60315437-5F20D643-C87E-4FAD-8CAC-31EE3EE7AC12 wds:Q60315437-64BEDB65-45A1-490C-AC0A-AAB877D1698A wds:Q60315437-66F49121-8B42-4A30-8196-1DCBE3CC9C8F wds:Q60315437-67F8B7E8-BF8F-4A55-9C36-96280B2DBC40 wds:Q60315437-6894BE77-EF35-4FF5-8C0C-3388AC6CFCAE wds:Q60315437-758CD677-002A-4E7F-A440-00B0D98CDB69 wds:Q60315437-7B1CD67F-4B90-44A7-A962-8573915B9EFA wds:Q60315437-8005BC50-BB79-4D1C-A184-1BFB583D5006 wds:Q60315437-85C9AD57-F4F9-418E-9BBF-264EB13EFD3C wds:Q60315437-89EC360E-AD54-4476-BBD3-0E25B0841D3D wds:Q60315437-8B4B5AF4-55D4-416F-B795-FD1D699754CC wds:Q60315437-8EF055B9-CDF6-4790-819E-F074B8021FDB wds:Q60315437-9A73BC2F-FE04-4FF4-B2EE-4B753BC95934 wds:Q60315437-A1180F63-F856-4816-8A31-A136BC75EE5A wds:Q60315437-B223AE18-F942-4B97-82F2-6F1085589E91 wds:Q60315437-B23291CC-E0E8-4CD8-B2B4-A80C8C835E35 wds:Q60315437-B5F27DEC-5B9C-4CA4-AE4D-17114A97C6B3 wds:Q60315437-BEEEBC73-2F25-4426-A986-FCF14E37D3A2 wds:Q60315437-C37E246A-7914-41BA-808F-0AEA09869833 wds:Q60315437-C757DD3C-9C25-4678-88F2-F28DB6DBAE9B wds:Q60315437-CBAAE270-A568-4BC6-8019-966537A7C82F wds:Q60315437-E6BD3804-67DE-4E72-B67B-EE34FB9B293A wds:Q60315437-EEDF0D79-B034-4B53-9B16-F9975F5AA4C4 wds:Q60315437-F58900E8-BDE4-4CAC-9EDE-E4167CAE271D wds:Q60315437-FAE0A0AE-16E8-4AC1-A0C8-0205E308E40F
cites work	Large-scale genotyping identifies 41 new loci associated with breast cancer risk Germline RAD51C mutations confer susceptibility to ovarian cancer Assessment of SLX4 Mutations in Hereditary Breast Cancers Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families. Genetic susceptibility to breast cancer Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles Biallelic inactivation of BRCA2 in Fanconi anemia PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene A recurrent mutation in PALB2 in Finnish cancer families. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families Rare variants in XRCC2 as breast cancer susceptibility alleles Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer The contribution of founder mutations to early-onset breast cancer in French-Canadian women Rare mutations in XRCC2 increase the risk of breast cancer Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer. Rare germline mutations in PALB2 and breast cancer risk: a population-based study A novel germline PALB2 deletion in Polish breast and ovarian cancer patients A PALB2 mutation associated with high risk of breast cancer The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia. Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations PALB2 and breast cancer: ready for clinical translation! Sequencing analysis of SLX4/FANCP gene in Italian familial breast cancer cases. Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. PALB2 germline mutations in familial breast cancer cases with personal and family history of pancreatic cancer
author name string	wds:Q60315437-1C3967CD-385E-4ECA-A09A-2118AF7BB76E wds:Q60315437-222DC48E-199C-4DDF-9399-A55546A76F07 wds:Q60315437-324145AB-8A05-4BAF-BFFB-71A3408C45CA
author name string	Loris Bernard Monica Barile Tiziana Bianchi
rdfs:label	PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo (en) PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo (nl)
skos:prefLabel	PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo (en) PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo (nl)
name	PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo (en) PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo (nl)
author	wds:Q60315437-02216F35-F505-47D1-92CF-AE00AAA7C35B wds:Q60315437-28823E93-036C-4010-86F6-4720524230C9 wds:Q60315437-355A4E9F-51F3-491B-8C69-15865D984F6D wds:Q60315437-3A303FF3-6F36-4E4D-82F8-FF916D909CA7

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