VUS – GeneLit

The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.
Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S.
Genes (Basel). 2021 Sep 24;12(10):1483. doi: 10.3390/genes12101483.

BRCA1/BRCA2 variants of uncertain significance in clinical practice: A case report.
Huszno J, Piglowski W, Mazur M, Pamula-Pilat J, Zajkowicz A, Kierzkowska AF, Wojciechowska MO.
Mol Clin Oncol. 2021 Nov;15(5):222. doi: 10.3892/mco.2021.2385. Epub 2021 Aug 31.

A BRCA1 coiled-coil domain variant disrupting PALB2 interaction promotes the development of mammary tumors and confers a targetable defect in homologous recombination repair.
Pulver EM, Mukherjee C, van de Kamp G, Roobol SJ, Rother MB, van der Gulden H, de Bruijn R, Lattanzio MV, van der Burg E, Drenth AP, Verkaik NS, Hahn K, Klarenbeek S, de Korte-Grimmerink R, van de Ven M, Pritchard CEJ, Huijbers IJ, Xia B, van Gent DC, Essers J, van Attikum H, Ray Chaudhuri A, Bouwman P, Jonkers J.
Cancer Res. 2021 Sep 21:canres.1415.2021. doi: 10.1158/0008-5472.CAN-21-1415. Epub ahead of print.

Increasing referral of at-risk women for genetic counseling and BRCA testing using a screening tool in a community breast imaging center.
Arun BK, Peterson SK, Sweeney LE, Bluebond RD, Tidwell RSS, Makhnoon S, Kushwaha Ac.
Cancer. 2021 Aug 23. doi: 10.1002/cncr.33866. Epub ahead of print

Editorial:

Population screening to identify women at risk for hereditary breast cancer syndromes: The path forward or the road not taken?

LitAlert ~~ GeneLit.com

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Martinez-Ruiz SH, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espin R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C, Gemo, Cimba, Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA.
Hum Mutat. 2021 Aug 22. doi: 10.1002/humu.24276. Epub ahead of print.

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
Herzog JS, Chavarri-Guerra Y, Castillo D, Abugattas J, Villarreal-Garza C, Sand S, Clague-Dehart J, Alvarez-Gómez RM, Wegman-Ostrosky T, Mohar A, Mora P, Del Toro-Valero A, Daneri-Navarro A, Rodriguez Y, Cruz-Correa M, Ashton-Prolla P, Alemar B, Mejia R, Gallardo L, Shaw R, Yang K, Cervantes A, Tsang K, Nehoray B, Barrera Saldana H, Neuhausen S, Weitzel JN.
NPJ Breast Cancer. 2021 Aug 19;7(1):107. doi: 10.1038/s41523-021-00317-6.

Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients.
Wu X, Chen Z, Ren P, Zhao X, Tang D, Geng H, Xu X, Zhao W.
Biomed Res Int. 2021 Jul 24;2021:5579543. doi: 10.1155/2021/5579543.

Cancer Predisposition Sequencing Reporter (CPSR): a flexible variant report engine for high-throughput germline screening in cancer.
Nakken S, Saveliev V, Hofmann O, Møller P, Myklebost O, Hovig E.
Int J Cancer. 2021 Jul 26. doi: 10.1002/ijc.33749. Epub ahead of print.

Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications.
Sessa G, Ehlén Å, von Nicolai C, Carreira A.
Cancers (Basel). 2021 Jul 23;13(15):3719. doi: 10.3390/cancers13153719.

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C, Scarpitta R, Gambino G, Conti E, Bellè F, Tancredi M, Cervelli T, Falaschi E, Cosini C, Aretini P, Congregati C, Marino M, Patruno M, Pilato B, Spina F, Balestrino L, Tenedini E, Carnevali I, Cortesi L, Tagliafico E, Tibiletti MG, Tommasi S, Ghilli M, Vivanet C, Galli A, Caligo MA.
Int J Mol Sci. 2021 Jul 19;22(14):7693. doi: 10.3390/ijms22147693.

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B.
Front Genet. 2021 Jul 13;12:698595. doi: 10.3389/fgene.2021.698595.

Expanding the search for germline pathogenic variants for breast cancer. How far should we go and how high should we jump? The missed opportunity!
Abdel-Razeq H.
Oncol Rev. 2021 Jun 24;15(1):544. doi: 10.4081/oncol.2021.544.

Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer.
Hamilton JG, Symecko H, Spielman K, Breen K, Mueller R, Catchings A, Trottier M, Salo-Mullen EE, Shah I, Arutyunova A, Batson M, Gebert R, Pundock S, Schofield E, Offit K, Stadler ZK, Cadoo K, Carlo MI, Narayan V, Reiss KA, Robson ME, Domchek SM.
Genet Med. 2021 Jul 13. doi: 10.1038/s41436-021-01262-2. Epub ahead of print.

Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care
Berrios C, Hurley EA, Willig L, Thiffault I, Saunders C, Pastinen T, Goggin K, Farrow E.
Genet Med. 2021 Jul 13. doi: 10.1038/s41436-021-01267-x. Epub ahead of print.