Author's response to reviews Title:Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast/ovarian cancer families from Eastern Ontario, Canada Authors:
نویسندگان
چکیده
Taila Hartley ([email protected]) Luca Cavallone ([email protected]) Nelly Sabbaghian ([email protected]) Rachel Silva-Smith ([email protected]) Nancy Hamel ([email protected]) Olga Aleynikova ([email protected]) Erika Smith ([email protected]) Valerie Hastings ([email protected]) Pedro Pinto ([email protected]) Marc Tischkowitz ([email protected]) Eva Tomiak ([email protected]) William D Foulkes ([email protected])
منابع مشابه
Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada
BACKGROUND PALB2 has emerged as a breast cancer susceptibility gene. Mutations in PALB2 have been identified in almost all breast cancer populations studied to date, but the rarity of these mutations and lack of information regarding their penetrance makes genetic counseling for these families challenging. We studied BRCA1/2 -negative breast and/or ovarian cancer families to a) assess the contr...
متن کاملAnalysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
BACKGROUND The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either ...
متن کاملPromoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer.
The partner and localizer of BRCA2 (PALB2) gene was recently identified as a BRCA2-interacting protein and subsequently shown to be a Fanconi anemia gene (FANCN). Disease-associated point mutations resulting in protein truncation have been found in BRCA1/2 mutation-negative breast cancer families identifying PALB2 as a susceptibility gene for breast cancer. Aberrant promoter hypermethylation is...
متن کاملPALB2 functionally connects the breast cancer susceptibility proteins BRCA1 and BRCA2.
BRCA1 and BRCA2 are prominently associated with inherited breast and ovarian cancer. The encoded proteins function in DNA damage responses, but no functional link between BRCA1 and BRCA2 has been established. We show here that PALB2 physically and functionally connects BRCA1 and BRCA2 into a DNA damage response network that also includes the RAD51 recombinase. PALB2 directly binds BRCA1, as det...
متن کاملMutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations
In addition to BRCA1 and BRCA2, RAD51C, PALB2 and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C, PALB2 and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and with...
متن کامل