| Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China. | Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.
Li J, He P, Cai Q, Chen L, Wang Y, Cai W, Qiu Y, Liu S, Guo W, Chen M, Lin Y, Wang C, Fu F., Free PMC Article | 07/12/2024 |
| PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFbeta signaling. | PALB2-mutated human mammary cells display a broad spectrum of morphological and functional abnormalities induced by increased TGFβ signaling.
Tuppurainen H, Laurila N, Nätynki M, Eshraghi L, Tervasmäki A, Erichsen L, Sørensen CS, Pylkäs K, Winqvist R, Peltoketo H., Free PMC Article | 04/24/2024 |
| Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations. | Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations.
Infante M, Arranz-Ledo M, Lastra E, Olaverri A, Ferreira R, Orozco M, Hernández L, Martínez N, Durán M. | 12/27/2023 |
| Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM. | Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM.
Dean M, Tezak AL, Johnson S, Weidner A, Almanza D, Pal T, Cragun DL. | 11/13/2023 |
| Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2. | Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2.
Yadav S, Boddicker NJ, Na J, Polley EC, Hu C, Hart SN, Gnanaolivu RD, Larson N, Holtegaard S, Huang H, Dunn CA, Teras LR, Patel AV, Lacey JV, Neuhausen SL, Martinez E, Haiman C, Chen F, Ruddy KJ, Olson JE, John EM, Kurian AW, Sandler DP, O'Brien KM, Taylor JA, Weinberg CR, Anton-Culver H, Ziogas A, Zirpoli G, Goldgar DE, Palmer JR, Domchek SM, Weitzel JN, Nathanson KL, Kraft P, Couch FJ., Free PMC Article | 10/24/2023 |
| Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk. | Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Wilcox N, Dumont M, González-Neira A, Carvalho S, Joly Beauparlant C, Crotti M, Luccarini C, Soucy P, Dubois S, Nuñez-Torres R, Pita G, Gardner EJ, Dennis J, Alonso MR, Álvarez N, Baynes C, Collin-Deschesnes AC, Desjardins S, Becher H, Behrens S, Bolla MK, Castelao JE, Chang-Claude J, Cornelissen S, Dörk T, Engel C, Gago-Dominguez M, Guénel P, Hadjisavvas A, Hahnen E, Hartman M, Herráez B, SGBCC Investigators, Jung A, Keeman R, Kiechle M, Li J, Loizidou MA, Lush M, Michailidou K, Panayiotidis MI, Sim X, Teo SH, Tyrer JP, van der Kolk LE, Wahlström C, Wang Q, Perry JRB, Benitez J, Schmidt MK, Schmutzler RK, Pharoah PDP, Droit A, Dunning AM, Kvist A, Devilee P, Easton DF, Simard J., Free PMC Article | 10/19/2023 |
| Low Expression of PALB2 is Associated With Poor Survival in Chinese Women With Primary Breast Cancer. | Low Expression of PALB2 is Associated With Poor Survival in Chinese Women With Primary Breast Cancer.
Liu J, Chen J, Sun J, Yao L, Zhang J, Xie Y, Xu Y. | 06/9/2023 |
| PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients. | PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients.
Siraj AK, Bu R, Parvathareddy SK, Iqbal K, Azam S, Qadri Z, Al-Rasheed M, Haqawi W, Diaz M, Victoria IG, Al-Badawi IA, Tulbah A, Al-Dayel F, Ajarim D, Al-Kuraya KS., Free PMC Article | 06/2/2023 |
| UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2. | UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M, Consensus meeting attendees, Lalloo F., Free PMC Article | 04/26/2023 |
| Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population. | Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
Zou W, Zhang Q, Sun R, Li X, He S. | 03/14/2023 |
| Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing. | Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.
Li N, Zethoven M, McInerny S, Healey E, DeSilva D, Devereux L, Scott RJ, James PA, Campbell IG. | 01/28/2023 |
| Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan. | Contribution of germline PALB2 variants to an unselected and prospectively registered pancreatic cancer patient cohort in Pakistan.
Muhammad N, Sadaqat R, Naeemi H, Masood I, Hassan U, Ijaz B, Hanif F, Syed AA, Yusuf MA, Rashid MU. | 12/24/2022 |
| Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data. | Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data.
Eyries M, Ariste O, Legrand G, Basset N, Guillerm E, Perrier A, Duros C, Cohen-Haguenauer O, de la Grange P, Coulet F., Free PMC Article | 10/22/2022 |
| Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma. | Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma.
Xia B, Biswas K, Foo TK, Gomes TT, Riedel-Topper M, Southon E, Kang Z, Huo Y, Reid S, Stauffer S, Zhou W, Zhu B, Koka H, Yepes S, Brodie SA, Jones K, Vogt A, Zhu B, Carter B, Freedman ND, Hicks B, Yeager M, Chanock SJ, Couch F, Parry DM, Monteiro AN, Goldstein AM, Carvalho MA, Sharan SK, Yang XR., Free PMC Article | 09/17/2022 |
| Germline mutations in Chinese ovarian cancer with or without breast cancer. | Germline mutations in Chinese ovarian cancer with or without breast cancer.
Kwong A, Ho CYS, Shin VY, Au CH, Luk WP, Fung LH, Chan TL, Chan KKL, Ngan HYS, Ma ESK., Free PMC Article | 07/23/2022 |
| Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer. | Case-case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer.
Johnatty SE, Pesaran T, Dolinsky J, Yussuf A, LaDuca H, James PA, O'Mara TA, Spurdle AB. | 07/16/2022 |
| PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina. | PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina.
Gonzalez A, Del Greco F, Vargas-Roig L, Brun B, Tabares G, Mampel A, Montes C, Martin C, Lopez M, Rossi N, Bruno L, Ponce C, Quaglio P, Yanzi A, Acevedo S, Lugo L, Lopez Breccia P, Avila S, Sisterna S, Del Castillo MS, Vazquez M, Nuñez LM. | 07/2/2022 |
| Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program. | Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program.
Bychkovsky BL, Li T, Sotelo J, Tayob N, Mercado J, Gomy I, Chittenden A, Kane S, Stokes S, Hughes ME, Kim JS, Umeton R, Awad MM, Konstantinopoulos PA, Yurgelun MB, Wolpin BM, Taplin ME, Newmark RE, Johnson BE, Lindeman NI, MacConaill LE, Garber JE, Lin NU., Free PMC Article | 06/11/2022 |
| Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore. | Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.
Ng PS, Boonen RA, Wijaya E, Chong CE, Sharma M, Knaup S, Mariapun S, Ho WK, Lim J, Yoon SY, Mohd Taib NA, See MH, Li J, Lim SH, Tan EY, Tan BK, Tan SM, Tan VK, van Dam RM, Rahmat K, Yip CH, Carvalho S, Luccarini C, Baynes C, Dunning AM, Antoniou A, van Attikum H, Easton DF, Hartman M, Teo SH., Free PMC Article | 04/30/2022 |
| The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response. | The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response.
Zhang Y, Park JY, Zhang F, Olson SH, Orlow I, Li Y, Kurtz RC, Ladanyi M, Chen J, Toland AE, Zhang L, Andreassen PR., Free PMC Article | 04/2/2022 |
| Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2. | Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.
Whitworth J, Casey RT, Smith PS, Giger O, Martin JE, Clark G, Cook J, Fernando MS, Taniere P, NIHR BioResource, Maher ER., Free PMC Article | 03/12/2022 |
| Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants. | Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A, Bueno-Martínez E, Sanoguera-Miralles L, Lorca V, Fraile-Bethencourt E, Esteban-Sánchez A, Gómez-Barrero S, Carvalho S, Allen J, García-Álvarez A, Pérez-Segura P, Dorling L, Easton DF, Devilee P, Vreeswijk MP, de la Hoya M, Velasco EA., Free PMC Article | 03/5/2022 |
| Structural Insight into the Mechanism of PALB2 Interaction with MRG15. | Structural Insight into the Mechanism of PALB2 Interaction with MRG15.
Redington J, Deveryshetty J, Kanikkannan L, Miller I, Korolev S., Free PMC Article | 02/19/2022 |
| A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation. | A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation.
Brnich SE, Arteaga EC, Wang Y, Tan X, Berg JS., Free PMC Article | 01/22/2022 |
| Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer. | Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H, Dicks EM, Tyrer J, Intermaggio M, Chenevix-Trench G, Bowtell DD, Traficante N, Group A, Brenton J, Goranova T, Hosking K, Piskorz A, van Oudenhove E, Doherty J, Harris HR, Rossing MA, Duerst M, Dork T, Bogdanova NV, Modugno F, Moysich K, Odunsi K, Ness R, Karlan BY, Lester J, Jensen A, Krüger Kjaer S, Høgdall E, Campbell IG, Lázaro C, Pujara MA, Cunningham J, Vierkant R, Winham SJ, Hildebrandt M, Huff C, Li D, Wu X, Yu Y, Permuth JB, Levine DA, Schildkraut JM, Riggan MJ, Berchuck A, Webb PM, Group OS, Cybulski C, Gronwald J, Jakubowska A, Lubinski J, Alsop J, Harrington P, Chan I, Menon U, Pearce CL, Wu AH, de Fazio A, Kennedy CJ, Goode E, Ramus S, Gayther S, Pharoah P., Free PMC Article | 01/22/2022 |