Search details
1.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906479
2.
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Int J Mol Sci
; 22(11)2021 May 29.
Article
in English
| MEDLINE | ID: mdl-34072463
3.
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Hum Mutat
; 40(11): e1-e23, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31209999
4.
Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
Int J Cancer
; 145(2): 390-400, 2019 07 15.
Article
in English
| MEDLINE | ID: mdl-30613976
5.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat
; 39(12): 2025-2039, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30204945
6.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet Med
; 20(4): 452-457, 2018 04.
Article
in English
| MEDLINE | ID: mdl-28837162
7.
Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.
Breast Cancer Res
; 19(1): 119, 2017 Nov 07.
Article
in English
| MEDLINE | ID: mdl-29116004
8.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-26130695
9.
Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
Cancer
; 123(2): 210-218, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-27648926
10.
Breast-cancer risk in families with mutations in PALB2.
N Engl J Med
; 371(6): 497-506, 2014 Aug 07.
Article
in English
| MEDLINE | ID: mdl-25099575
11.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(10): 2208, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-36205748
12.
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
J Med Genet
; 53(12): 800-811, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27595995
13.
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
PLoS Genet
; 10(4): e1004256, 2014 04.
Article
in English
| MEDLINE | ID: mdl-24698998
14.
Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.
Breast Cancer Res Treat
; 160(1): 121-129, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27624329
15.
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
PLoS Genet
; 9(3): e1003173, 2013.
Article
in English
| MEDLINE | ID: mdl-23544012
16.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res
; 17: 61, 2015 Apr 25.
Article
in English
| MEDLINE | ID: mdl-25925750
17.
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
Genet Med
; 16(9): 688-94, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24556926
18.
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
PLoS Biol
; 9(11): e1001199, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-22110403
19.
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations.
Carcinogenesis
; 34(2): 314-8, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23161572
20.
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
Breast Cancer Res
; 15(3): 402, 2013 Jun 21.
Article
in English
| MEDLINE | ID: mdl-23809231