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1.
Release of reclassified VUS results of now deceased patients to family members: Practices and opinions.
J Genet Couns
; 2024 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38189571
2.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37076566
3.
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Genome Res
; 30(8): 1170-1180, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32817165
4.
Timely cancer genetic counseling and testing for young women with breast cancer: impact on surgical decision-making for contralateral risk-reducing mastectomy.
Breast Cancer Res Treat
; 194(2): 393-401, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-35596825
5.
Effect of risk-reducing salpingo-oophorectomy on sex steroid hormone serum levels among postmenopausal women: an NRG Oncology/Gynecologic Oncology Group study.
Am J Obstet Gynecol
; 227(1): 61.e1-61.e18, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35216968
6.
Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
Lancet Oncol
; 22(12): 1787-1798, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34780712
7.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33300245
8.
Prospective follow-up of quality of life for participants undergoing risk-reducing salpingo-oophorectomy or ovarian cancer screening in GOG-0199: An NRG Oncology/GOG study.
Gynecol Oncol
; 156(1): 131-139, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31759774
9.
Knowledge and opinions regarding BRCA1 and BRCA2 genetic testing among primary care physicians.
J Genet Couns
; 29(1): 122-130, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31729099
10.
Factors associated with deciding between risk-reducing salpingo-oophorectomy and ovarian cancer screening among high-risk women enrolled in GOG-0199: An NRG Oncology/Gynecologic Oncology Group study.
Gynecol Oncol
; 145(1): 122-129, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28190649
11.
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res
; 18(1): 15, 2016 Feb 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-26857456
12.
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.
Cancer
; 122(23): 3673-3681, 2016 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27496084
13.
Research participant interest in primary, secondary, and incidental genomic findings.
Genet Med
; 18(12): 1218-1225, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27101135
14.
Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.
J Genet Couns
; 25(3): 529-42, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26621765
15.
Parent decision-making around the genetic testing of children for germline TP53 mutations.
Cancer
; 121(2): 286-93, 2015 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25223899
16.
Relationships between computer-extracted mammographic texture pattern features and BRCA1/2 mutation status: a cross-sectional study.
Breast Cancer Res
; 16(4): 424, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25159706
17.
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Hum Mol Genet
; 20(16): 3304-21, 2011 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21593217
18.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Hum Mol Genet
; 20(23): 4732-47, 2011 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21890493
19.
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour.
J Med Genet
; 48(7): 473-6, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21617256
20.
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer.
JAMA
; 307(4): 382-90, 2012 Jan 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-22274685