BRCA2 c.5446_5447inv ;(p.S1816L)

Variant ID: 13-32913938-AG-CT

NM_000059.3(BRCA2):c.5446_5447inv;(p.S1816L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

International Journal Of Oncology
Lavoro, Alessandro A; Scalisi, Aurora A; Candido, Saverio S; Zanghì, Guido Nicola GN; Rizzo, Roberta R; Gattuso, Giuseppe G; Caruso, Giuseppe G; Libra, Massimo M; Falzone, Luca L
Publication Date: 2022-05

Variant appearance in text: BRCA2: Ser1816Leu
PubMed Link: 35383859
Variant Present in the following documents:
  • Main text
  • ijo-60-05-05349.pdf
View BVdb publication page



Longitudinal analysis of a secondary BRCA2 mutation using digital droplet PCR.

The Journal Of Pathology. Clinical Research
Khalique, Saira S; Pettitt, Stephen J SJ; Kelly, Ger G; Tunariu, Nina N; Natrajan, Rachael R; Banerjee, Susana S; Lord, Christopher J CJ
Publication Date: 2020-01

Variant appearance in text: BRCA2: Ser1816Leu
PubMed Link: 31577852
Variant Present in the following documents:
  • Main text
  • CJP2-6-3.pdf
View BVdb publication page