Suchergebnisse - "Domchek, Susan M"

PubPharm (26)

1

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

enthalten in: American journal of human genetics | 2024

von Hu, C. | Huang, H. | Na, J. | +23

2

Care after premenopausal risk-reducing salpingo-oophorectomy in high-risk women : Scoping review and international consensus recommendations

enthalten in: BJOG : an international journal of obstetrics and gynaecology | 2023

von Nebgen, D. | Domchek, S. | Kotsopoulos, J. | +24

3

Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood

enthalten in: Clinical genetics | 2023

von Maxwell, K. | Patel, V. | Nead, K. | +11

4

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer

enthalten in: European urology | 2022

von Lee, D. | Hausler, R. | Le, A. | +18

CommentIn: Eur Urol. 2022 Jun;81(6):568-569. - PMID 35027260

5

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2022

von Li, H. | Engel, C. | de la Hoya, M. | +60

ErratumIn: Genet Med. 2022 Oct;24(10):2208. - PMID 36205748

6

BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry

enthalten in: Human mutation | 2019

von Friebel, T. | Andrulis, I. | Balmaña, J. | +40

7

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification

enthalten in: Human mutation | 2019

von Parsons, M. | Tudini, E. | Li, H. | +99

8

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

enthalten in: Human mutation | 2018

von Rebbeck, T. | Friebel, T. | Friedman, E. | +99

9

Reproductive Decision-Making in Women with BRCA1/2 Mutations

enthalten in: Journal of genetic counseling | 2017

von Chan, J. | Johnson, L. | Sammel, M. | +4

10

A randomized Phase II study of veliparib with temozolomide or carboplatin/paclitaxel versus placebo with carboplatin/paclitaxel in BRCA1/2 metastatic breast cancer : design and rationale

enthalten in: Future oncology (London, England) | 2017

von Isakoff, S. | Puhalla, S. | Domchek, S. | +12